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2. Measuring the effect of newborn screening on survival after haematopoietic cell transplantation for severe combined immunodeficiency: a 36-year longitudinal study from the Primary Immune Deficiency Treatment Consortium.

Author

Thakar, Monica, Logan, Brent, Puck, Jennifer, Dunn, Elizabeth, Buckley, Rebecca, Cowan, Morton, OReilly, Richard, Kapoor, Neena, Satter, Lisa, Pai, Sung-Yun, Heimall, Jennifer, Chandra, Sharat, Ebens, Christen, Chellapandian, Deepak, Williams, Olatundun, Burroughs, Lauri, Saldana, Blachy, Rayes, Ahmad, Madden, Lisa, Chandrakasan, Shanmuganathan, Bednarski, Jeffrey, DeSantes, Kenneth, Cuvelier, Geoffrey, Teira, Pierre, Gillio, Alfred, Eissa, Hesham, Knutsen, Alan, Goldman, Frederick, Aquino, Victor, Shereck, Evan, Moore, Theodore, Caywood, Emi, Lugt, Mark, Rozmus, Jacob, Broglie, Larisa, Yu, Lolie, Shah, Ami, Andolina, Jeffrey, Liu, Xuerong, Parrott, Roberta, Dara, Jasmeen, Prockop, Susan, Martinez, Caridad, Kapadia, Malika, Jyonouchi, Soma, Sullivan, Kathleen, Bleesing, Jack, Chaudhury, Sonali, Petrovic, Aleksandra, Keller, Michael, Quigg, Troy, Parikh, Suhag, Shenoy, Shalini, Seroogy, Christine, Rubin, Tamar, Decaluwe, Hélène, Routes, John, Torgerson, Troy, Leiding, Jennifer, Pulsipher, Michael, Kohn, Donald, Griffith, Linda, Haddad, Elie, Dvorak, Christopher, and Notarangelo, Luigi

Subjects
Humans, Infant, Newborn, Graft vs Host Disease, Hematopoietic Stem Cell Transplantation, Longitudinal Studies, Neonatal Screening, Proportional Hazards Models, Severe Combined Immunodeficiency
Abstract

BACKGROUND: Severe combined immunodeficiency (SCID) is fatal unless durable adaptive immunity is established, most commonly through allogeneic haematopoietic cell transplantation (HCT). The Primary Immune Deficiency Treatment Consortium (PIDTC) explored factors affecting the survival of individuals with SCID over almost four decades, focusing on the effects of population-based newborn screening for SCID that was initiated in 2008 and expanded during 2010-18. METHODS: We analysed transplantation-related data from children with SCID treated at 34 PIDTC sites in the USA and Canada, using the calendar time intervals 1982-89, 1990-99, 2000-09, and 2010-18. Categorical variables were compared by χ2 test and continuous outcomes by the Kruskal-Wallis test. Overall survival was estimated by the Kaplan-Meier method. A multivariable analysis using Cox proportional hazards regression models examined risk factors for HCT outcomes, including the variables of time interval of HCT, infection status and age at HCT, trigger for diagnosis, SCID type and genotype, race and ethnicity of the patient, non-HLA-matched sibling donor type, graft type, GVHD prophylaxis, and conditioning intensity. FINDINGS: For 902 children with confirmed SCID, 5-year overall survival remained unchanged at 72%-73% for 28 years until 2010-18, when it increased to 87% (95% CI 82·1-90·6; n=268; p=0·0005). For children identified as having SCID by newborn screening since 2010, 5-year overall survival was 92·5% (95% CI 85·8-96·1), better than that of children identified by clinical illness or family history in the same interval (79·9% [69·5-87·0] and 85·4% [71·8-92·8], respectively [p=0·043]). Multivariable analysis demonstrated that the factors of active infection (hazard ratio [HR] 2·41, 95% CI 1·56-3·72; p

Published
2023

3. Monogenic early-onset lymphoproliferation and autoimmunity: Natural history of STAT3 gain-of-function syndrome.

Author

Rensing-Ehl, Anne, Neven, Bénédicte, Hadjadj, Jérôme, Hambleton, Sophie, Ronan Leahy, Timothy, Meesilpavikai, Kornvalee, Cunningham-Rundles, Charlotte, Dutmer, Cullen, Sharapova, Svetlana, Taskinen, Mervi, Chua, Ignatius, Hague, Rosie, Klemann, Christian, Kostyuchenko, Larysa, Morio, Tomohiro, Thatayatikom, Akaluck, Ozen, Ahmet, Scherbina, Anna, Bauer, Cindy, Flanagan, Sarah, Gambineri, Eleonora, Giovannini-Chami, Lisa, Heimall, Jennifer, Sullivan, Kathleen, Allenspach, Eric, Romberg, Neil, Deane, Sean, Prince, Benjamin, Rose, Melissa, Bohnsack, John, Mousallem, Talal, Jesudas, Rohith, Santos Vilela, Maria, OSullivan, Michael, Pachlopnik Schmid, Jana, Průhová, Štěpánka, Klocperk, Adam, Rees, Matthew, Su, Helen, Bahna, Sami, Baris, Safa, Bartnikas, Lisa, Chang Berger, Amy, Briggs, Tracy, Brothers, Shannon, Bundy, Vanessa, Grunebaum, Eyal, Haapaniemi, Emma, Hämäläinen, Sari, Heiskanen, Kaarina, Heiskanen-Kosma, Tarja, Hoffman, Hal, Gonzalez-Granado, Luis, Guerrerio, Anthony, Kainulainen, Leena, Kumar, Ashish, Lawrence, Monica, Levin, Carina, Martelius, Timi, Neth, Olaf, Olbrich, Peter, Palma, Alejandro, Patel, Niraj, Pozos, Tamara, Preece, Kahn, Lugo Reyes, Saúl, Russell, Mark, Schejter, Yael, Seroogy, Christine, Sinclair, Jan, Skevofilax, Effie, Suan, Daniel, Suez, Daniel, Szabolcs, Paul, Velasco, Helena, Warnatz, Klaus, Walkovich, Kelly, Worth, Austen, Seppänen, Mikko, Torgerson, Troy, Sogkas, Georgios, Ehl, Stephan, Tangye, Stuart, Cooper, Megan, Milner, Joshua, Forbes Satter, Lisa, Leiding, Jennifer, Vogel, Tiphanie, Santarlas, Valentine, Mhaskar, Rahul, Smith, Madison, Carisey, Alexandre, Vargas-Hernández, Alexander, Silva-Carmona, Manuel, Chandrakasan, Shanmuganathan, Christiansen, Mette, Cole, Theresa, Cook, Matthew, Desai, Mukesh, and Fischer, Ute

Subjects
STAT3, autoimmunity, cytopenia, gain of function, immune dysregulation, immunodeficiency, lymphoproliferation, precision medicine, Child, Humans, Autoimmunity, Cohort Studies, Gain of Function Mutation, Immune System Diseases, Immunologic Deficiency Syndromes, Mutation, STAT3 Transcription Factor, Cell Proliferation, Lymphocytes
Abstract

BACKGROUND: In 2014, germline signal transducer and activator of transcription (STAT) 3 gain-of-function (GOF) mutations were first described to cause a novel multisystem disease of early-onset lymphoproliferation and autoimmunity. OBJECTIVE: This pivotal cohort study defines the scope, natural history, treatment, and overall survival of a large global cohort of patients with pathogenic STAT3 GOF variants. METHODS: We identified 191 patients from 33 countries with 72 unique mutations. Inclusion criteria included symptoms of immune dysregulation and a biochemically confirmed germline heterozygous GOF variant in STAT3. RESULTS: Overall survival was 88%, median age at onset of symptoms was 2.3 years, and median age at diagnosis was 12 years. Immune dysregulatory features were present in all patients: lymphoproliferation was the most common manifestation (73%); increased frequencies of double-negative (CD4-CD8-) T cells were found in 83% of patients tested. Autoimmune cytopenias were the second most common clinical manifestation (67%), followed by growth delay, enteropathy, skin disease, pulmonary disease, endocrinopathy, arthritis, autoimmune hepatitis, neurologic disease, vasculopathy, renal disease, and malignancy. Infections were reported in 72% of the cohort. A cellular and humoral immunodeficiency was observed in 37% and 51% of patients, respectively. Clinical symptoms dramatically improved in patients treated with JAK inhibitors, while a variety of other immunomodulatory treatment modalities were less efficacious. Thus far, 23 patients have undergone bone marrow transplantation, with a 62% survival rate. CONCLUSION: STAT3 GOF patients present with a wide array of immune-mediated disease including lymphoproliferation, autoimmune cytopenias, and multisystem autoimmunity. Patient care tends to be siloed, without a clear treatment strategy. Thus, early identification and prompt treatment implementation are lifesaving for STAT3 GOF syndrome.

Published
2023

4. Caregiver worry about COVID-19 as a predictor of social mitigation behaviours and SARS-CoV-2 infection in a 12-city U.S. surveillance study of households with children

Author

Brunwasser, Steven M., Gebretsadik, Tebeb, Satish, Anisha, Cole, Jennifer C., Dupont, William D., Joseph, Christine, Bendixsen, Casper G., Calatroni, Agustin, Arbes, Samuel J., Jr, Fulkerson, Patricia C., Sanders, Joshua, Bacharier, Leonard B., Camargo, Jr, Carlos A., Johnson, Christine Cole, Furuta, Glenn T., Gruchalla, Rebecca S., Gupta, Ruchi S., Khurana Hershey, Gurjit K., Jackson, Daniel J., Kattan, Meyer, Liu, Andrew, O'Connor, George T., Rivera-Spoljaric, Katherine, Phipatanakul, Wanda, Rothenberg, Marc E., Seibold, Max A., Seroogy, Christine M., Teach, Stephen J., Zoratti, Edward M., Togias, Alkis, and Hartert, Tina V.

Published
2025
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5. Heritable vaginal bacteria influence immune tolerance and relate to early-life markers of allergic sensitization in infancy

Author

McCauley, Kathryn E, Rackaityte, Elze, LaMere, Brandon, Fadrosh, Douglas W, Fujimura, Kei E, Panzer, Ariane R, Lin, Din L, Lynch, Kole V, Halkias, Joanna, Mendoza, Ventura F, Burt, Trevor D, Bendixsen, Casper, Barnes, Kathrine, Kim, Haejin, Jones, Kyra, Ownby, Dennis R, Johnson, Christine C, Seroogy, Christine M, Gern, James E, Boushey, Homer A, Lynch, Susan V, and Workgroup, for the ECHO Children’s Respiratory and Environmental

Subjects
Biomedical and Clinical Sciences, Asthma, Prevention, Pediatric, Lung, Clinical Research, Aetiology, 2.2 Factors relating to the physical environment, 2.1 Biological and endogenous factors, Infection, Inflammatory and immune system, Respiratory, Good Health and Well Being, Animals, Bacteria, Female, Gastrointestinal Microbiome, Humans, Hypersensitivity, Immediate, Immune Tolerance, Immunoglobulin E, Infant, Mice, Pregnancy, ECHO Children’s Respiratory and Environmental Workgroup, Lactobacillus, asthma, atopy, immune tolerance, inherited bacteria, microbiota, prenatal, transmission, vaginal, vaginal microbiota, Biomedical and clinical sciences
Abstract

Maternal asthma status, prenatal exposures, and infant gut microbiota perturbation are associated with heightened risk of atopy and asthma risk in childhood, observations hypothetically linked by intergenerational microbial transmission. Using maternal vaginal (n = 184) and paired infant stool (n = 172) samples, we identify four compositionally and functionally distinct Lactobacillus-dominated vaginal microbiota clusters (VCs) that relate to prenatal maternal health and exposures and infant serum immunoglobulin E (IgE) status at 1 year. Variance in bacteria shared between mother and infant pairs relate to VCs, maternal allergy/asthma status, and infant IgE levels. Heritable bacterial gene pathways associated with infant IgE include fatty acid synthesis and histamine and tryptophan degradation. In vitro, vertically transmitted Lactobacillus jensenii strains induce immunosuppressive phenotypes on human antigen-presenting cells. Murine supplementation with L. jensenii reduces lung eosinophils, neutrophilic expansion, and the proportion of interleukin-4 (IL-4)+ CD4+ T cells. Thus, bacterial and atopy heritability are intimately linked, suggesting a microbial component of intergenerational disease transmission.

Published
2022

7. Investigation of the causal etiology in a patient with T-B+NK+ immunodeficiency

Author

Sertori, Robert, Lin, Jian-Xin, Martinez, Esteban, Rana, Sadhna, Sharo, Andrew, Kazemian, Majid, Sunderam, Uma, Andrake, Mark, Shinton, Susan, Truong, Billy, Dunbrack, Roland M, Liu, Chengyu, Srinivasan, Rajgopol, Brenner, Steven E, Seroogy, Christine M, Puck, Jennifer M, Leonard, Warren J, and Wiest, David L

Subjects
Biological Sciences, Biomedical and Clinical Sciences, Cardiovascular Medicine and Haematology, Immunology, Genetics, Transplantation, Rare Diseases, Pediatric, Stem Cell Research, 2.1 Biological and endogenous factors, Animals, Humans, Infant, Infant, Newborn, Lymphopenia, Male, Mice, Neonatal Screening, Severe Combined Immunodeficiency, T-Lymphocytes, Zebrafish, immunodeficiency, newborn screening, zebrafish, thymus, MED14, T cell lymphopenia, severe combined immunodeficiency, Medical Microbiology, Biochemistry and cell biology
Abstract

Newborn screening for severe combined immunodeficiency (SCID) has not only accelerated diagnosis and improved treatment for affected infants, but also led to identification of novel genes required for human T cell development. A male proband had SCID newborn screening showing very low T cell receptor excision circles (TRECs), a biomarker for thymic output of nascent T cells. He had persistent profound T lymphopenia, but normal numbers of B and natural killer (NK) cells. Despite an allogeneic hematopoietic stem cell transplant from his brother, he failed to develop normal T cells. Targeted resequencing excluded known SCID genes; however, whole exome sequencing (WES) of the proband and parents revealed a maternally inherited X-linked missense mutation in MED14 (MED14V763A), a component of the mediator complex. Morpholino (MO)-mediated loss of MED14 function attenuated T cell development in zebrafish. Moreover, this arrest was rescued by ectopic expression of cDNA encoding the wild type human MED14 ortholog, but not by MED14V763A , suggesting that the variant impaired MED14 function. Modeling of the equivalent mutation in mouse (Med14V769A) did not disrupt T cell development at baseline. However, repopulation of peripheral T cells upon competitive bone marrow transplantation was compromised, consistent with the incomplete T cell reconstitution experienced by the proband upon transplantation with bone marrow from his healthy male sibling, who was found to have the same MED14V763A variant. Suspecting that the variable phenotypic expression between the siblings was influenced by further mutation(s), we sought to identify genetic variants present only in the affected proband. Indeed, WES revealed a mutation in the L1 cell adhesion molecule (L1CAMQ498H); however, introducing that mutation in vivo in mice did not disrupt T cell development. Consequently, immunodeficiency in the proband may depend upon additional, unidentified gene variants.

Published
2022

8. Impact of genetic and non-genetic factors on phenotypic diversity in NBAS-associated disease

Author

Hammann, Nicole, Lenz, Dominic, Baric, Ivo, Crushell, Ellen, Vici, Carlo Dionisi, Distelmaier, Felix, Feillet, Francois, Freisinger, Peter, Hempel, Maja, Khoreva, Anna L., Laass, Martin W., Lacassie, Yves, Lainka, Elke, Larson-Nath, Catherine, Li, Zhongdie, Lipiński, Patryk, Lurz, Eberhard, Mégarbané, André, Nobre, Susana, Olivieri, Giorgia, Peters, Bianca, Prontera, Paolo, Schlieben, Lea D., Seroogy, Christine M., Sobacchi, Cristina, Suzuki, Shigeru, Tran, Christel, Vockley, Jerry, Wang, Jian-She, Wagner, Matias, Prokisch, Holger, Garbade, Sven F., Kölker, Stefan, Hoffmann, Georg F., and Staufner, Christian

Published
2024
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11. Infections in Infants with SCID: Isolation, Infection Screening, and Prophylaxis in PIDTC Centers.

Author

Dorsey, Morna J, Wright, Nicola AM, Chaimowitz, Natalia S, Dávila Saldaña, Blachy J, Miller, Holly, Keller, Michael D, Thakar, Monica S, Shah, Ami J, Abu-Arja, Rolla, Andolina, Jeffrey, Aquino, Victor, Barnum, JL, Bednarski, Jeffrey J, Bhatia, Monica, Bonilla, Francisco A, Butte, Manish J, Bunin, Nancy J, Chandra, Sharat, Chaudhury, Sonali, Chen, Karin, Chong, Hey, Cuvelier, Geoffrey DE, Dalal, Jignesh, DeFelice, Magee L, DeSantes, Kenneth B, Forbes, Lisa R, Gillio, Alfred, Goldman, Fred, Joshi, Avni Y, Kapoor, Neena, Knutsen, Alan P, Kobrynski, Lisa, Lieberman, Jay A, Leiding, Jennifer W, Oshrine, Benjamin, Patel, Kiran P, Prockop, Susan, Quigg, Troy C, Quinones, Ralph, Schultz, Kirk R, Seroogy, Christine, Shyr, David, Siegel, Subhadra, Smith, Angela R, Torgerson, Troy R, Vander Lugt, Mark T, Yu, Lolie C, Cowan, Morton J, Buckley, Rebecca H, Dvorak, Christopher C, Griffith, Linda M, Haddad, Elie, Kohn, Donald B, Logan, Brent, Notarangelo, Luigi D, Pai, Sung-Yun, Puck, Jennifer, Pulsipher, Michael A, and Heimall, Jennifer

Subjects
Humans, Severe Combined Immunodeficiency, Disease Susceptibility, Neonatal Screening, Prognosis, Antibiotic Prophylaxis, Hematopoietic Stem Cell Transplantation, Age of Onset, Infection Control, Infant, Infant, Newborn, Disease Management, Female, Male, Public Health Surveillance, Time-to-Treatment, Surveys and Questionnaires, Clinical Decision-Making, Infections, hematopoietic stem cell transplant, newborn screening, primary immunodeficiency, prophylaxis, severe combined immunodeficiency, Stem Cell Research, Perinatal Period - Conditions Originating in Perinatal Period, Pediatric, Prevention, Regenerative Medicine, Transplantation, Infant Mortality, Health Services, Clinical Research, Infection, Immunology
Abstract

PurposeThe Primary Immune Deficiency Treatment Consortium (PIDTC) enrolled children with severe combined immunodeficiency (SCID) in a prospective natural history study of hematopoietic stem cell transplant (HSCT) outcomes over the last decade. Despite newborn screening (NBS) for SCID, infections occurred prior to HSCT. This study's objectives were to define the types and timing of infection prior to HSCT in patients diagnosed via NBS or by family history (FH) and to understand the breadth of strategies employed at PIDTC centers for infection prevention.MethodsWe analyzed retrospective data on infections and pre-transplant management in patients with SCID diagnosed by NBS and/or FH and treated with HSCT between 2010 and 2014. PIDTC centers were surveyed in 2018 to understand their practices and protocols for pre-HSCT management.ResultsInfections were more common in patients diagnosed via NBS (55%) versus those diagnosed via FH (19%) (p = 0.012). Outpatient versus inpatient management did not impact infections (47% vs 35%, respectively; p = 0.423). There was no consensus among PIDTC survey respondents as to the best setting (inpatient vs outpatient) for pre-HSCT management. While isolation practices varied, immunoglobulin replacement and antimicrobial prophylaxis were more uniformly implemented.ConclusionInfants with SCID diagnosed due to FH had lower rates of infection and proceeded to HSCT more quickly than did those diagnosed via NBS. Pre-HSCT management practices were highly variable between centers, although uses of prophylaxis and immunoglobulin support were more consistent. This study demonstrates a critical need for development of evidence-based guidelines for the pre-HSCT management of infants with SCID following an abnormal NBS.Trial registrationNCT01186913.

Published
2021

13. Expression quantitative trait locus fine mapping of the 17q12-21 asthma locus in African American children: a genetic association and gene expression study.

Author

Ober, Carole, McKennan, Chris, Magnaye, Kevin, Altman, Matthew, Washington, Charles, Stanhope, Catherine, Naughton, Katherine, Rosasco, Mario, Bacharier, Leonard, Billheimer, Dean, Gold, Diane, Gress, Lisa, Hartert, Tina, Havstad, Suzanne, Khurana Hershey, Gurjit, Hallmark, Brian, Hogarth, D, Jackson, Daniel, Johnson, Christine, Kattan, Meyer, Lemanske, Robert, Lynch, Susan, Mendonca, Eneida, Miller, Rachel, Naureckas, Edward, OConnor, George, Seroogy, Christine, Wegienka, Ganesa, White, Steven, Wood, Robert, Wright, Anne, Zoratti, Edward, Martinez, Fernando, Ownby, Dennis, Nicolae, Dan, Levin, Albert, and Gern, James

Subjects
Black or African American, Asthma, Child, Chromosomes, Human, Pair 17, Epithelial Cells, Female, Gene Expression Profiling, Genetic Association Studies, Genetic Predisposition to Disease, Genotype, Humans, Leukocytes, Mononuclear, Linkage Disequilibrium, Male, Membrane Proteins, Neoplasm Proteins, Polymorphism, Single Nucleotide, Quantitative Trait Loci, United States, White People
Abstract

BACKGROUND: African ancestry is associated with a higher prevalence and greater severity of asthma than European ancestries, yet genetic studies of the most common locus associated with childhood-onset asthma, 17q12-21, in African Americans have been inconclusive. The aim of this study was to leverage both the phenotyping of the Childrens Respiratory and Environmental Workgroup (CREW) birth cohort consortium, and the reduced linkage disequilibrium in African Americans, to fine map the 17q12-21 locus. METHODS: We first did a genetic association study and meta-analysis using 17q12-21 tag single-nucleotide polymorphisms (SNPs) for childhood-onset asthma in 1613 European American and 870 African American children from the CREW consortium. Nine tag SNPs were selected based on linkage disequilibrium patterns at 17q12-21 and their association with asthma, considering the effect allele under an additive model (0, 1, or 2 effect alleles). Results were meta-analysed with publicly available summary data from the EVE consortium (on 4303 European American and 3034 African American individuals) for seven of the nine SNPs of interest. Subsequently, we tested for expression quantitative trait loci (eQTLs) among the SNPs associated with childhood-onset asthma and the expression of 17q12-21 genes in resting peripheral blood mononuclear cells (PBMCs) from 85 African American CREW children and in upper airway epithelial cells from 246 African American CREW children; and in lower airway epithelial cells from 44 European American and 72 African American adults from a case-control study of asthma genetic risk in Chicago (IL, USA). FINDINGS: 17q12-21 SNPs were broadly associated with asthma in European Americans. Only two SNPs (rs2305480 in gasdermin-B [GSDMB] and rs8076131 in ORMDL sphingolipid biosynthesis regulator 3 [ORMDL3]) were associated with asthma in African Americans, at a Bonferroni-corrected threshold of p

Published
2020

14. Hematopoietic Cell Transplantation in Patients With Primary Immune Regulatory Disorders (PIRD): A Primary Immune Deficiency Treatment Consortium (PIDTC) Survey.

Author

Chan, Alice Y, Leiding, Jennifer W, Liu, Xuerong, Logan, Brent R, Burroughs, Lauri M, Allenspach, Eric J, Skoda-Smith, Suzanne, Uzel, Gulbu, Notarangelo, Luigi D, Slatter, Mary, Gennery, Andrew R, Smith, Angela R, Pai, Sung-Yun, Jordan, Michael B, Marsh, Rebecca A, Cowan, Morton J, Dvorak, Christopher C, Craddock, John A, Prockop, Susan E, Chandrakasan, Shanmuganathan, Kapoor, Neena, Buckley, Rebecca H, Parikh, Suhag, Chellapandian, Deepak, Oshrine, Benjamin R, Bednarski, Jeffrey J, Cooper, Megan A, Shenoy, Shalini, Davila Saldana, Blachy J, Forbes, Lisa R, Martinez, Caridad, Haddad, Elie, Shyr, David C, Chen, Karin, Sullivan, Kathleen E, Heimall, Jennifer, Wright, Nicola, Bhatia, Monica, Cuvelier, Geoffrey DE, Goldman, Frederick D, Meyts, Isabelle, Miller, Holly K, Seidel, Markus G, Vander Lugt, Mark T, Bacchetta, Rosa, Weinacht, Katja G, Andolina, Jeffrey R, Caywood, Emi, Chong, Hey, de la Morena, Maria Teresa, Aquino, Victor M, Shereck, Evan, Walter, Jolan E, Dorsey, Morna J, Seroogy, Christine M, Griffith, Linda M, Kohn, Donald B, Puck, Jennifer M, Pulsipher, Michael A, and Torgerson, Troy R

Subjects
Animals, Humans, Treatment Outcome, Hematopoietic Stem Cell Transplantation, Adolescent, Adult, Middle Aged, Child, Child, Preschool, Infant, T-Lymphocytes, Regulatory, Young Adult, Surveys and Questionnaires, Primary Immunodeficiency Diseases, autoimmunity, genetics, hematopoietic cell transplant, immune dysregulation, primary immune deficiencies, Clinical Research, Rare Diseases, Transplantation, 5.2 Cellular and gene therapies, Development of treatments and therapeutic interventions, Inflammatory and immune system, Immunology, Medical Microbiology
Abstract

Primary Immune Regulatory Disorders (PIRD) are an expanding group of diseases caused by gene defects in several different immune pathways, such as regulatory T cell function. Patients with PIRD develop clinical manifestations associated with diminished and exaggerated immune responses. Management of these patients is complicated; oftentimes immunosuppressive therapies are insufficient, and patients may require hematopoietic cell transplant (HCT) for treatment. Analysis of HCT data in PIRD patients have previously focused on a single gene defect. This study surveyed transplanted patients with a phenotypic clinical picture consistent with PIRD treated in 33 Primary Immune Deficiency Treatment Consortium centers and European centers. Our data showed that PIRD patients often had immunodeficient and autoimmune features affecting multiple organ systems. Transplantation resulted in resolution of disease manifestations in more than half of the patients with an overall 5-years survival of 67%. This study, the first to encompass disorders across the PIRD spectrum, highlights the need for further research in PIRD management.

Published
2020

16. Monogenic early-onset lymphoproliferation and autoimmunity: Natural history of STAT3 gain-of-function syndrome

Author

Aleshkevich, Svetlana, Allende, Luis M., Atkinson, T. Prescott, Atschekzei, Faranaz, Aydemir, Sezin, Aygunes, Utku, Barlogis, Vincent, Baumann, Ulrich, Belko, John, Bezrodnik, Liliana, Biebl, Ariane, Broderick, Lori, Bunin, Nancy J., Caldirola, Maria Soledad, Castelle, Martin, Celmeli, Fatih, Charbonnier, Louis-Marie, Chatila, Talal A., Chellapandian, Deepak, Cokugras, Haluk, Conlon, Niall, Cox, Fionnuala, Crickx, Etienne, Dalgic, Buket, ASH Dalm, Virgil, Danielian, Silvia, Dominguez-Pinilla, Nerea, Dujovny, Tal, Ebbo, Mikael, Eken, Ahmet, Esty, Brittany, Fabre, Alexandre, Fischer, Alain, Hannibal, Mark, Huppert, Laura, Ikeda, Marc D., Jolles, Stephen, Jolly, Kent W., Jones, Neil, Kanariou, Maria, Karakoc-Aydiner, Elif, Karamantziani, Theoni, Kelaidi, Charikleia, Keogan, Mary, Pac Kisaarslan, Ayşenur, Kiykim, Ayca, Klocperk, Adam, Kotsonis, Kosmas, Kuzmenko, Natalia, Leroy, Sylvie, Lianou, Dimitra, Longhurst, Hilary, Lorenz, Myriam Ricarda, Maffucci, Patrick, Manson, Ania, Marchal, Sarah, Malphettes, Marion, Marega, Lia Furlaneto, Mauracher, Andrea A., Meesilpavikai, Kornvalee, Miller, Holly, Mombourquette, Joy, Morgan, Noel G., Mukhina, Anna, Nathalie, Aladjidi, Nelken, Brigitte, Nolan, David, Norlin, Anna-Carin, Oleastro, Matias, Ozcan, Alper, Pasquet, Marlene, Pegler, José Roberto, Picard, Capucine, Polychronopoulou, Sophia, Quartier, Pierre, Quesada, Juan Francisco, Ramakers, Jan, Randall, Katrina L., Rao, V. Koneti, Remiker, Allison, Resin, Geraldine, Richmond, Peter, Rieux-Laucat, Frederic, Rodina, Yulia, Rohrlich, Pierre, Sachs, Johnathan, Sakovich, Inga, Santarlas, Christopher, Sari, Sinan, Sawicki, Gregory, Schauer, Uwe, Scheffler Mendoza, Selma C., Schvetz, Oksana, Schmidt, Reinhold Ernst, Schwarz, Klaus, Sediva, Anna, Sinclair, Kyle, Slatter, Mary, Sleasman, John, Stergiou, Katerina, Suratannon, Narissara, Tanita, Kay, Thompson, Grace, Travis, Stephen, Trojan, Timothy, Tsinti, Maria, Unal, Ekrem, Urdinez, Luciano, Vazquez-Gomez, Felisa, Villa, Mariana, Weinrich, Michael, Weiss, Mitchell J., Wright, Benjamin, Yilmaz, Ebru, Zachova, Radana, Zhang, Yu, Leiding, Jennifer W., Vogel, Tiphanie P., Santarlas, Valentine G.J., Mhaskar, Rahul, Smith, Madison R., Carisey, Alexandre, Vargas-Hernández, Alexander, Silva-Carmona, Manuel, Heeg, Maximilian, Rensing-Ehl, Anne, Neven, Bénédicte, Hadjadj, Jérôme, Hambleton, Sophie, Ronan Leahy, Timothy, Cunningham-Rundles, Charlotte, Dutmer, Cullen M., Sharapova, Svetlana O., Taskinen, Mervi, Chua, Ignatius, Hague, Rosie, Klemann, Christian, Kostyuchenko, Larysa, Morio, Tomohiro, Thatayatikom, Akaluck, Ozen, Ahmet, Scherbina, Anna, Bauer, Cindy S., Flanagan, Sarah E., Gambineri, Eleonora, Giovannini-Chami, Lisa, Heimall, Jennifer, Sullivan, Kathleen E., Allenspach, Eric, Romberg, Neil, Deane, Sean G., Prince, Benjamin T., Rose, Melissa J., Bohnsack, John, Mousallem, Talal, Jesudas, Rohith, Santos Vilela, Maria Marluce Dos, O’Sullivan, Michael, Pachlopnik Schmid, Jana, Průhová, Štěpánka, Rees, Matthew, Su, Helen, Bahna, Sami, Baris, Safa, Bartnikas, Lisa M., Chang Berger, Amy, Briggs, Tracy A., Brothers, Shannon, Bundy, Vanessa, Chan, Alice Y., Chandrakasan, Shanmuganathan, Christiansen, Mette, Cole, Theresa, Cook, Matthew C., Desai, Mukesh M., Fischer, Ute, Fulcher, David A., Gallo, Silvanna, Gauthier, Amelie, Gennery, Andrew R., Gonçalo Marques, José, Gottrand, Frédéric, Grimbacher, Bodo, Grunebaum, Eyal, Haapaniemi, Emma, Hämäläinen, Sari, Heiskanen, Kaarina, Heiskanen-Kosma, Tarja, Hoffman, Hal M., Gonzalez-Granado, Luis Ignacio, Guerrerio, Anthony L., Kainulainen, Leena, Kumar, Ashish, Lawrence, Monica G., Levin, Carina, Martelius, Timi, Neth, Olaf, Olbrich, Peter, Palma, Alejandro, Patel, Niraj C., Pozos, Tamara, Preece, Kahn, Lugo Reyes, Saúl Oswaldo, Russell, Mark A., Schejter, Yael, Seroogy, Christine, Sinclair, Jan, Skevofilax, Effie, Suan, Daniel, Suez, Daniel, Szabolcs, Paul, Velasco, Helena, Warnatz, Klaus, Walkovich, Kelly, Worth, Austen, Seppänen, Mikko R.J., Torgerson, Troy R., Sogkas, Georgios, Ehl, Stephan, Tangye, Stuart G., Cooper, Megan A., Milner, Joshua D., and Forbes Satter, Lisa R.

Published
2023
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17. Heterozygous FOXN1 Variants Cause Low TRECs and Severe T Cell Lymphopenia, Revealing a Crucial Role of FOXN1 in Supporting Early Thymopoiesis

Author

Bosticardo, Marita, Yamazaki, Yasuhiro, Cowan, Jennifer, Giardino, Giuliana, Corsino, Cristina, Scalia, Giulia, Prencipe, Rosaria, Ruffner, Melanie, Hill, David A, Sakovich, Inga, Yemialyanava, Irma, Tam, Jonathan S, Padem, Nurcicek, Elder, Melissa E, Sleasman, John W, Perez, Elena, Niebur, Hana, Seroogy, Christine M, Sharapova, Svetlana, Gebbia, Jennifer, Kleiner, Gary Ira, Peake, Jane, Abbott, Jordan K, Gelfand, Erwin W, Crestani, Elena, Biggs, Catherine, Butte, Manish J, Hartog, Nicholas, Hayward, Anthony, Chen, Karin, Heimall, Jennifer, Seeborg, Filiz, Bartnikas, Lisa M, Cooper, Megan A, Pignata, Claudio, Bhandoola, Avinash, and Notarangelo, Luigi D

Subjects
Biomedical and Clinical Sciences, Immunology, Rare Diseases, Biotechnology, Genetics, Prevention, Vaccine Related, Biodefense, 2.1 Biological and endogenous factors, Aetiology, Adult, Aged, Animals, Child, Preschool, Female, Forkhead Transcription Factors, Heterozygote, Humans, Infant, Infant, Newborn, Lymphopenia, Male, Mice, Mice, SCID, Middle Aged, T-Lymphocytes, Thymus Gland, Young Adult, FOXN1, SCID, T cell receptor excision circles, T lymphocytes, newborn screening, thymopoiesis, thymus, Biological Sciences, Medical and Health Sciences, Genetics & Heredity, Biological sciences, Biomedical and clinical sciences, Health sciences
Abstract

FOXN1 is the master regulatory gene of thymic epithelium development. FOXN1 deficiency leads to thymic aplasia, alopecia, and nail dystrophy, accounting for the nude/severe combined immunodeficiency (nu/SCID) phenotype in humans and mice. We identified several newborns with low levels of T cell receptor excision circles (TRECs) and T cell lymphopenia at birth, who carried heterozygous loss-of-function FOXN1 variants. Longitudinal analysis showed persistent T cell lymphopenia during infancy, often associated with nail dystrophy. Adult individuals with heterozygous FOXN1 variants had in most cases normal CD4+ but lower than normal CD8+ cell counts. We hypothesized a FOXN1 gene dosage effect on the function of thymic epithelial cells (TECs) and thymopoiesis and postulated that these effects would be more prominent early in life. To test this hypothesis, we analyzed TEC subset frequency and phenotype, early thymic progenitor (ETP) cell count, and expression of FOXN1 target genes (Ccl25, Cxcl12, Dll4, Scf, Psmb11, Prss16, and Cd83) in Foxn1nu/+ (nu/+) mice and age-matched wild-type (+/+) littermate controls. Both the frequency and the absolute count of ETP were significantly reduced in nu/+ mice up to 3 weeks of age. Analysis of the TEC compartment showed reduced expression of FOXN1 target genes and delayed maturation of the medullary TEC compartment in nu/+ mice. These observations establish a FOXN1 gene dosage effect on thymic function and identify FOXN1 haploinsufficiency as an important genetic determinant of T cell lymphopenia at birth.

Published
2019

19. Risk factors for SARS-CoV-2 infection and transmission in households with children with asthma and allergy: A prospective surveillance study

Author

Seibold, Max A., Moore, Camille M., Everman, Jamie L., Williams, Blake J.M., Nolin, James D., Fairbanks-Mahnke, Ana, Plender, Elizabeth G., Patel, Bhavika B., Arbes, Samuel J., Bacharier, Leonard B., Bendixsen, Casper G., Calatroni, Agustin, Camargo, Carlos A., Jr., Dupont, William D., Furuta, Glenn T., Gebretsadik, Tebeb, Gruchalla, Rebecca S., Gupta, Ruchi S., Khurana Hershey, Gurjit K., Murrison, Liza Bronner, Jackson, Daniel J., Johnson, Christine C., Kattan, Meyer, Liu, Andrew H., Lussier, Stephanie J., O’Connor, George T., Rivera-Spoljaric, Katherine, Phipatanakul, Wanda, Rothenberg, Marc E., Seroogy, Christine M., Teach, Stephen J., Zoratti, Edward M., Togias, Alkis, Fulkerson, Patricia C., and Hartert, Tina V.

Published
2022
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20. Expression quantitative trait locus fine mapping of the 17q12–21 asthma locus in African American children: a genetic association and gene expression study

Author

Achten, Niek, Ainsworth, John, Akkerman, Nonna, Anderson, Elizabeth, Anderson, Larry J., Andrews, Howard, Armagost, Elizabeth, Aubuchon, Mary Ann, Bach, Julia, Bacharier, Leonard, Barnes, Kathrine L., Barone, Charles, Bauer, Irma, Beamer, Paloma, Becker, Patrice, Bednarek, Alyssa, Bellemore, Stacey, Bendixsen, Casper G., Biagini Myers, Jocelyn M., Billheimer, Dean, Billstrand, Christine, Birg, Geraldine, Blocki, Shirley, Bloomberg, Gordon, Bobbitt, Kevin, Bochkov, Yury, Bourgeois, Karen, Boushey, Homer, Brockman-Schneider, Rebecca, Brunwasser, Steven M., Budrevich, Richard, Burkle, Jeffrey W., Busse, William, Calatroni, Agustin, Campbell, Janice, Carlson-Dakes, Kirsten, Cassidy-Bushrow, Andrea, Chappell, James D., Chasman, Deborah, Chipps, Teresa M., Chirkova, Tatiana, Cole, Deanna, Connolly, Alexandra, Cootauco, Michelle, Costello, Kaitlin, Couch, Philip, Coull, Brent, Craven, Mark, Crisafi, Gina, Cruikshank, William, Curtsinger, Kristi, Custovic, Adnan, Das, Suman R., DaSilva, Douglas, Datta, Soma, Davidson, Brent, De La Ossa, Lydia, DeVries, Mark, Di, Qian, Dixon, Samara, Donnerbauer, Erin, Dorst, Marian, Doyle, Susan, Dresen, Amy, Dupont, William D., Durrange, Janet, Erickson, Heidi, Evans, Michael D., Ezell, Jerel, Farnham, Leanna, Filardo-Collins, Roxanne, Finazzo, Salvatore, Flege, Zachary, Fleurat, Conner, Floerke, Heather, Floerke, Dorothy, Foss, Terry, Freie, Angela, Frome, Wayne, Fye, Samantha, Gagalis, Lisa, Gammell, Rebecca, Gangnon, Ronald E., Ge, James E., Gebretsadik, Tebeb, Gergen, Peter, Gern, James E., Gibson, Heike, Gjerasi, Edlira, Gold, Diane R., Gonzalez, Nicole, Goodman, Kayla, Gress, Lisa, Grindle, Kristine, Groeschen, Taylor, Hallmark, Brian, Halonen, Marilyn, Hart, Jaime, Hartert, Tina V., Havstad, Suzanne, Heinritz, Patrick, Hensley Alford, Sharon, Herbstman, Julie, Hernandez, Kellie, Hoepner, Lori, Jackson, Daniel J., Jadhao, Samadhan J., Jaffee, Katy, James, Peter, Jezioro, Jacqueline, Jimenez Pescador, Marcia, Johnson, Christine C., Johnson, Tara, Johnson, Camille, Jones, Amelia, Jones, Kyra, Jones, Paul, Jordan, Carolina, Joseph, Christine LM, Kattan, Meyer, Keidel, Kristina, Keifer, Matthew C., Kelley, Rick, Khurana Hershey, Gurgit K., Kim, Haejin, Kloog, Itai, Koepel, Tammy Kronenwetter, Koerkenmeier, Clint, Ladick, Laura, Lamm, Carin, Larkin, Emma, Lederman, Howard, Lee-Parritz, Aviva, Leimenstoll, Stephanie, Lemanske, Jr., Robert F., LeMasters, Grace K., Levin, Albert M., Levine, Jessica, Liu, Xinhua, Liu, Zhouwen, Lopez, Silvia, Lothrop, Nathan, Lovinsky-Desir, Stephanie, Lukacs, Nicholas, Lynch, Susan, Lynch, Christian, Mann, Erik, Martin, Jennifer, Martin, Lisa, Martinez, Fernando D., Matsui, Elizabeth, McCauley, Katherine, Mccollum, Megan, McCullough, Judith, McKennon, Chris G., Meece, Jennifer, Mendonca, Eneida, Mikus, Lance, Miller, Rachel L., Minton, Patricia, Mitchell, Herman, Moon, Vicki, Moore, Paul E., Morgan, Wayne, Morgan, Valerie, Morgan, David, Murrison, Liza, Nicholas, Charlotte, Nicolae, Daniel, Nunez, Adam, O'Connor, George, O'Toole, Sharon, Ober, Carole, Olson, Brent F., Ong, Irene, Osmundson, Sarah, Ownby, Dennis, Pappas, Tressa, Perera, Frederica, Perzanowski, Matthew, Peterson, Edward, Pierce, Marcela, Price-Johnson, Penny, Rajamanickam, Victoria, Ramirez, Judyth, Ray, Kimberly, Renneberg, Megan, Requia, Weeberb, Riley, Kylie, Rivera, Janelle, Rivers, Neisha, Roberg, Kathy, Rogers, Theresa, Rosas-Salazar, Christian, Russell, Pat, Ryan, Patrick H., Sadovsky, Yoel, Salazar, Lisa, Sampson, Hugh, Sandel, Megan, Schoettler, Nathan, Schwartz, Joel, Scott, Dena, Seroogy, Christine M., Sharp, Renee, Shilts, Meghan H., Sigelman, Steve, Singh, Anne Marie, Sitarik, Alexandra, Smartt, Ernestine, Sorkness, Ronald, Sorkness, Christine, Spangenberg, Amber, Sperling, Rhoda, Spies, David, Stern, Debra A., Stoffel, Brandy, Peebles, R. Stokes, Stouffer, Gina, Strauchman Boyer, Cathey, Suddeuth, Caitlin, Tachinardi, Umberto, Tang, Deliang, Tang, Zhengzheng, Tate, Jena, Taylor, William, Tensing, Krista, Tesson, Elizabeth, Thompson, Kathy, Thompson, Emma, Tisler, Christopher, Togias, Alkis, Turi, Kedir, Turner, Victoria, Tuzova, Marina, VanWormer, Jeffrey J., Visness, Cynthia M., Vrtis, Rose, Wahlman, Anthony, Wang, Lena, Wegienka, Ganesa, Wells, Karen, Wentworth-Sheilds, William, Wheatley, Lisa, Whitney, Nitsa, Williams, L. Keoki, Witter, Frank, Wolfe, Christopher, Wood, Robert A., Woodcroft, Kimberley, Woodward, Kim B., Wright, Anne L., Wright, Rosalind, Wu, Pingsheng, Yaeger, Melissa, Yaniv, Perri, Zanobetti, Antonella, Zhang, Shirley, Zook, Patricia, Zoratti, Edward M., McKennan, Chris G, Magnaye, Kevin M, Altman, Matthew C, Washington, Charles, 3rd, Stanhope, Catherine, Naughton, Katherine A, Rosasco, Mario G, Bacharier, Leonard B, Gold, Diane R, Hartert, Tina, Khurana Hershey, Gurjit K, Hogarth, D Kyle, Jackson, Daniel J, Johnson, Christine C, Lemanske, Robert F, Lynch, Susan V, Mendonca, Eneida A, Miller, Rachel L, Naureckas, Edward T, O'Connor, George T, Seroogy, Christine M, White, Steven R, Wood, Robert A, Wright, Anne L, Zoratti, Edward M, Martinez, Fernando D, Nicolae, Dan L, Levin, Albert M, and Gern, James E

Published
2020
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21. Morbidity, Mortality, and Therapeutics in Combined Immunodeficiency: Data From the USIDNET Registry

Author

Puck, Jennifer, Secord, Elizabeth, Akhter, Javeed, Pozos, Tamara, Fuleihan, Ramsay, Chen, Karin, Buckley, Rebecca, Patel, Niraj, Suez, Daniel, Cooper, Megan, Butte, Manish, Bonilla, Francisco, Walkovich, Kelly, Haddad, Elie, Cunningham-Rundles, Charlotte, Kleiner, Gary, Chong, Hey, Ballas, Zuhair, Uygungil, Burcin, Hernandez-Trujillo, Vivian, Secord, Elizabeth A., Hartog, Nicholas, Dorsey, Morna, Shapiro, Ralph, Schuval, Susan, Notarangelo, Luigi, Routes, John, Knight, Adina, Bennett, Nicholas, Khan, Fatima, Walter, Jolan, Seroogy, Christine, Ochs, Hans, Haines, Kathleen, Muskat, Mica, Costa Reis, Patricia, Cheng, Laurence, Durkee-Shock, Jessica, Zhang, Anqing, Liang, Hua, Wright, Hannah, Magnusson, Julieann, Garabedian, Elizabeth, Marsh, Rebecca A., Sullivan, Kathleen E., and Keller, Michael D.

Published
2022
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22. Development and assessment of educational materials for spinal muscular atrophy carrier screening in the Plain community.

Author

Eichten, Carly, Kuhl, Ashley, Baker, Mei, Kwon, Jennifer M., Seroogy, Christine M., and Williams, Katie B.

Abstract

Spinal muscular atrophy (SMA) has been reported in both Amish and Mennonite (Plain) communities, and a higher incidence has been observed in certain Mennonite communities compared to the general population. There are several therapies for SMA, but all are most effective in pre‐symptomatic newborns. To identify couples from the Wisconsin Plain community who are most likely to have a child with SMA, carrier screening is offered via mailed kits with at‐home specimen collection. Our survey data about Plain families' perspectives on genetic testing suggest educational materials are needed for individuals providing informed consent with at‐home specimen collection. We therefore developed a Plain population‐specific educational trifold brochure about SMA carrier screening by incorporating existing medical education strategies and feedback from Plain community members and their health care providers. Along with the brochure, surveys were included in the kits to assess baseline knowledge about SMA carrier screening ("pre‐education") as well as improvement in knowledge after reviewing the brochure and cultural appropriateness of the brochure ("post‐education"). Fifty‐five testing kits were distributed, and 26 survey pairs (pre‐ and post‐education) were returned and analyzed (response rate 47%). Respondents had high baseline knowledge with an average of 5 of 7 questions (71%) answered correctly on the pre‐education survey. Knowledge improved after reviewing the brochure as the average score increased to 6.5 of 7 questions (93%) answered correctly. Questions about risks of having an affected child after positive or negative carrier screening showed the most improvement from the pre‐education to post‐education surveys. Most respondents indicated the brochure was helpful, was easy to understand, and contained the right amount of information. Overall, incorporating elements of existing medical education strategies with feedback from the target population and stakeholders about appropriate language seems to be an effective method for creating beneficial, culturally responsive educational materials for the Plain population. [ABSTRACT FROM AUTHOR]

Published
2024
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23. African-specific alleles modify risk for asthma at the 17q12-q21 locus in African Americans

Author

Washington, III, Charles, Dapas, Matthew, Biddanda, Arjun, Magnaye, Kevin M., Aneas, Ivy, Helling, Britney A., Szczesny, Brooke, Boorgula, Meher Preethi, Taub, Margaret A., Kenny, Eimear, Mathias, Rasika A., Barnes, Kathleen C., Khurana Hershey, Gurjit K., Kercsmar, Carolyn M., Gereige, Jessica D., Makhija, Melanie, Gruchalla, Rebecca S., Gill, Michelle A., Liu, Andrew H., Rastogi, Deepa, Busse, William, Gergen, Peter J., Visness, Cynthia M., Gold, Diane R., Hartert, Tina, Johnson, Christine C., Lemanske, Jr., Robert F., Martinez, Fernando D., Miller, Rachel L., Ownby, Dennis, Seroogy, Christine M., Wright, Anne L., Zoratti, Edward M., Bacharier, Leonard B., Kattan, Meyer, O’Connor, George T., Wood, Robert A., Nobrega, Marcelo A., Altman, Matthew C., Jackson, Daniel J., Gern, James E., McKennan, Christopher G., and Ober, Carole

Published
2022
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24. Human Epidemiology and RespOnse to SARS-CoV-2 (HEROS): Objectives, Design and Enrollment Results of a 12-City Remote Observational Surveillance Study of Households with Children using Direct-to-Participant Methods

Author

Fulkerson, Patricia C, primary, Lussier, Stephanie J, additional, Bendixsen, Casper G, additional, Castina, Sharon M, additional, Gebretsadik, Tebeb, additional, Marlin, Jessica S, additional, Russell, Patty B, additional, Seibold, Max A, additional, Everman, Jamie L, additional, Moore, Camille M, additional, Snyder, Brittney M, additional, Thompson, Kathy, additional, Tregoning, George S, additional, Wellford, Stephanie, additional, Arbes, Samuel J, additional, Bacharier, Leonard B, additional, Calatroni, Agustin, additional, Camargo Jr, Carlos A, additional, Dupont, William D, additional, Furuta, Glenn T, additional, Gruchalla, Rebecca S, additional, Gupta, Ruchi S, additional, Hershey, Gurjit Khurana, additional, Jackson, Daniel J, additional, Johnson, Christine C, additional, Kattan, Meyer, additional, Liu, Andrew H, additional, Murrison, Liza, additional, O’Connor, George T, additional, Phipatanakul, Wanda, additional, Rivera-Spoljaric, Katherine, additional, Rothenberg, Marc E, additional, Seroogy, Christine M, additional, Teach, Stephen J, additional, Zoratti, Edward M, additional, Togias, Alkis, additional, Hartert, Tina V, additional, and HEROS study team, on behalf of the, additional

Published
2024
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25. 68 LRBA dysfunction: a new diagnostic entity caused by biallelic LRBA missense variants results in reduced CTLA-4 expression and autoimmunity

Author

Chiang, Samuel, primary, Murguia-Favela, Luis, additional, Wright, Nicola, additional, Steele, MacGregor, additional, Seroogy, Christine, additional, Blanchard-Rohner, Geraldine, additional, Shrikhande, Anitha, additional, Wilson, Jo, additional, Yang, Li, additional, Owsley, Erika, additional, Hartog, Nicholas, additional, Elizalde, Araceli, additional, Bleesing, Jack, additional, Dimitriades, Victoria, additional, Gutierrez, Maria Jimena, additional, Peng, Xiao, additional, Derfalvi, Beata, additional, Brager, Rae, additional, Jordan, Michael, additional, and Marwaha, Ashish, additional

Published
2024
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27. Pediatric asthma incidence rates in the United States from 1980 to 2017

Author

Johnson, Christine C., Havstad, Suzanne L., Ownby, Dennis R., Joseph, Christine L.M., Sitarik, Alexandra R., Biagini Myers, Jocelyn, Gebretsadik, Tebeb, Hartert, Tina V., Khurana Hershey, Gurjit K., Jackson, Daniel J., Lemanske, Robert F., Jr., Martin, Lisa J., Zoratti, Edward M., Visness, Cynthia M., Ryan, Patrick H., Gold, Diane R., Martinez, Fernando D., Miller, Rachel L., Seroogy, Christine M., Wright, Anne L., and Gern, James E.

Published
2021
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31. Micro blood analysis technology (μBAT): multiplexed analysis of neutrophil phenotype and function from microliter whole blood samples.

Author

Juang, Terry D., Riendeau, Jeremiah, Geiger, Peter G., Datta, Rupsa, Lares, Marcos, Yada, Ravi Chandra, Singh, Anne Marie, Seroogy, Christine M., Gern, James E., Skala, Melissa C., Beebe, David J., and Kerr, Sheena C.

Subjects
BLOOD testing, NEUTROPHILS, BLOOD sampling, PHENOTYPES, PHAGOCYTOSIS, MEDICAL research
Abstract

There is an ongoing need to do more with less and provide highly multiplexed analysis from limited sample volumes. Improved "sample sparing" assays would have a broad impact across pediatric and other rare sample type studies in addition to enabling sequential sampling. This capability would advance both clinical and basic research applications. Here we report the micro blood analysis technology (μBAT), a microfluidic platform that supports multiplexed analysis of neutrophils from a single drop of blood. We demonstrate the multiplexed orthogonal capabilities of μBAT including functional assays (phagocytosis, neutrophil extracellular traps, optical metabolic imaging) and molecular assays (gene expression, cytokine secretion). Importantly we validate our microscale platform using a macroscale benchmark assay. μBAT is compatible with lancet puncture or microdraw devices, and its design facilitates rapid operations without the need for specialized equipment. μBAT offers a new method for investigating neutrophil function in populations with restricted sample amounts. [ABSTRACT FROM AUTHOR]

Published
2024
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32. Assessing immune factors in maternal milk and paired infant plasma antibody binding to human rhinoviruses.

Author

Vera, Jessica M., McIlwain, Sean J., Fye, Samantha, Palmenberg, Ann, Bochkov, Yury A., Hanying Li, Pinapati, Richard, Tan, John C., Gern, James E., Seroogy, Christine M., and Ong, Irene M.

Subjects
PEPTIDES, BREAST milk, AMINO acid sequence, IMMUNOGLOBULIN G, IMMUNOGLOBULIN A, BRONCHIOLITIS
Abstract

Introduction: Before they can produce their own antibodies, newborns are protected from infections by transplacental transfer of maternal IgG antibodies and after birth through breast milk IgA antibodies. Rhinovirus (RV) infections are extremely common in early childhood, and while RV infections often result in only mild upper respiratory illnesses, they can also cause severe lower respiratory illnesses such as bronchiolitis and pneumonia. Methods: We used high-density peptide arrays to profile infant and maternal antibody reactivity to capsid and full proteome sequences of three human RVs - A16, B52, and C11. Results: Numerous plasma IgG and breast milk IgA RV epitopes were identified that localized to regions of the RV capsid surface and interior, and also to several non-structural proteins. While most epitopes were bound by both IgG and IgA, there were several instances where isotype-specific and RV-specific binding were observed. We also profiled 62 unique RV-C protein loop sequences characteristic of this species' capsid VP1 protein. Discussion: Many of the RV-C loop sequences were highly bound by IgG from one-year-old infants, indicating recent or ongoing active infections, or alternatively, a level of cross-reactivity among homologous RV-C sites. [ABSTRACT FROM AUTHOR]

Published
2024
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34. Rhinovirus circulation patterns and age predilection of infection in children from 1997-2018

Author

Gao, YingYu, primary, Choi, Timothy, additional, Devries, Mark, additional, Tetreault, Kaitlin, additional, Gangnon, Ronald, additional, Bacharier, Leonard, additional, Busse, William, additional, Camargo, Carlos, additional, Cohen, Robyn, additional, DeMuri, Gregory, additional, Fitzpatrick, Anne, additional, Gergen, Peter, additional, Grindle, Kristine, additional, Gruchalla, Rebecca, additional, Hartert, Tina, additional, Hasegawa, Kohei, additional, Hershey, Gurjit Khurana, additional, Holt, Patrick, additional, Homil, Kiara, additional, Jartti, Tuomas, additional, Kattan, Meyer, additional, Kercsmar, Carolyn, additional, Kim, Haejin, additional, Laing, Ingrid, additional, Le Souef, Peter, additional, Liu, Andrew, additional, Mauger, David, additional, Pappas, Tressa, additional, Patel, Shilpa, additional, Phipatanakul, Wanda, additional, Pongracic, Jacqueline, additional, Seroogy, Christine, additional, Sly, Peter, additional, Tisler, Christopher, additional, Wald, Ellen, additional, Wood, Robert, additional, Lemanske, Robert, additional, Jackson, Daniel, additional, Bochkov, Yury, additional, Gern, James, additional, and Wilson, Jo, additional

Published
2024
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36. Correction to: Infections in Infants with SCID: Isolation, Infection Screening and Prophylaxis in PIDTC Centers

Author

Dorsey, Morna, Wright, Nicola A. M., Chaimowitz, Natalia S., Dávila Saldaña, Blachy J., Miller, Holly, Keller, Michael D., Thakar, Monica S., Shah, Ami J., Abu-Arja, Rolla, Andolina, Jeffrey, Aquino, Victor, Barnum, J. L., Bednarski, Jeffrey J., Bhatia, Monica, Bonilla, Francisco A., Butte, Manish J., Bunin, Nancy J., Burroughs, Lauri M., Chandra, Sharat, Chaudhury, Sonali, Chen, Karin, Chong, Hey, Cuvelier, Geoff, Dalal, Jignesh, DeFelice, Magee L., DeSantes, Kenneth B., Forbes, Lisa R., Gillio, Alfred, Goldman, Fred, Joshi, Avni Y., Kapoor, Neena, Knutsen, Alan P., Kobrynski, Lisa, Lieberman, Jay A., Leiding, Jennifer W., Oshrine, Benjamin, Patel, Kiran P., Prockop, Susan, Quigg, Troy C., Quinones, Ralph, Schultz, Kirk R., Seroogy, Christine, Shyr, David, Siegel, Subhadra, Smith, Angela R., Torgerson, Troy R., Vander Lugt, Mark T., Yu, Lolie C., Cowan, Morton J., Buckley, Rebecca H., Dvorak, Christopher C., Griffith, Linda M., Haddad, Elie, Kohn, Donald B., Logan, Brent, Notarangelo, Luigi D., Pai, Sung-Yun, Puck, Jennifer, Pulsipher, Michael A., and Heimall, Jennifer

Published
2021
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37. Newborn Screening for Severe Combined Immunodeficiency in 11 Screening Programs in the United States

Author

Kwan, Antonia, Abraham, Roshini S, Currier, Robert, Brower, Amy, Andruszewski, Karen, Abbott, Jordan K, Baker, Mei, Ballow, Mark, Bartoshesky, Louis E, Bonagura, Vincent R, Bonilla, Francisco A, Brokopp, Charles, Brooks, Edward, Caggana, Michele, Celestin, Jocelyn, Church, Joseph A, Comeau, Anne Marie, Connelly, James A, Cowan, Morton J, Cunningham-Rundles, Charlotte, Dasu, Trivikram, Dave, Nina, De La Morena, Maria T, Duffner, Ulrich, Fong, Chin-To, Forbes, Lisa, Freedenberg, Debra, Gelfand, Erwin W, Hale, Jaime E, Hanson, I Celine, Hay, Beverly N, Hu, Diana, Infante, Anthony, Johnson, Daisy, Kapoor, Neena, Kay, Denise M, Kohn, Donald B, Lee, Rachel, Lehman, Heather, Lin, Zhili, Lorey, Fred, Abdel-Mageed, Aly, Manning, Adrienne, McGhee, Sean, Moore, Theodore B, Naides, Stanley J, Notarangelo, Luigi D, Orange, Jordan S, Pai, Sung-Yun, Porteus, Matthew, Rodriguez, Ray, Romberg, Neil, Routes, John, Ruehle, Mary, Rubenstein, Arye, Saavedra-Matiz, Carlos A, Scott, Ginger, Scott, Patricia M, Secord, Elizabeth, Seroogy, Christine, Shearer, William T, Siegel, Subhadra, Silvers, Stacy K, Stiehm, E Richard, Sugerman, Robert W, Sullivan, John L, Tanksley, Susan, Tierce, Millard L, Verbsky, James, Vogel, Beth, Walker, Rosalyn, Walkovich, Kelly, Walter, Jolan E, Wasserman, Richard L, Watson, Michael S, Weinberg, Geoffrey A, Weiner, Leonard B, Wood, Heather, Yates, Anne B, and Puck, Jennifer M

Subjects
Biomedical and Clinical Sciences, Public Health, Health Sciences, Infant Mortality, Pediatric, Rare Diseases, Perinatal Period - Conditions Originating in Perinatal Period, Prevention, Good Health and Well Being, Female, Humans, Incidence, Infant, Newborn, Lymphopenia, Male, Neonatal Screening, Prognosis, Receptors, Antigen, T-Cell, Retrospective Studies, Severe Combined Immunodeficiency, Survival Analysis, T-Lymphocytes, United States, Medical and Health Sciences, General & Internal Medicine, Biomedical and clinical sciences, Health sciences
Abstract

ImportanceNewborn screening for severe combined immunodeficiency (SCID) using assays to detect T-cell receptor excision circles (TRECs) began in Wisconsin in 2008, and SCID was added to the national recommended uniform panel for newborn screened disorders in 2010. Currently 23 states, the District of Columbia, and the Navajo Nation conduct population-wide newborn screening for SCID. The incidence of SCID is estimated at 1 in 100,000 births.ObjectivesTo present data from a spectrum of SCID newborn screening programs, establish population-based incidence for SCID and other conditions with T-cell lymphopenia, and document early institution of effective treatments.DesignEpidemiological and retrospective observational study.SettingRepresentatives in states conducting SCID newborn screening were invited to submit their SCID screening algorithms, test performance data, and deidentified clinical and laboratory information regarding infants screened and cases with nonnormal results. Infants born from the start of each participating program from January 2008 through the most recent evaluable date prior to July 2013 were included. Representatives from 10 states plus the Navajo Area Indian Health Service contributed data from 3,030,083 newborns screened with a TREC test.Main outcomes and measuresInfants with SCID and other diagnoses of T-cell lymphopenia were classified. Incidence and, where possible, etiologies were determined. Interventions and survival were tracked.ResultsScreening detected 52 cases of typical SCID, leaky SCID, and Omenn syndrome, affecting 1 in 58,000 infants (95% CI, 1/46,000-1/80,000). Survival of SCID-affected infants through their diagnosis and immune reconstitution was 87% (45/52), 92% (45/49) for infants who received transplantation, enzyme replacement, and/or gene therapy. Additional interventions for SCID and non-SCID T-cell lymphopenia included immunoglobulin infusions, preventive antibiotics, and avoidance of live vaccines. Variations in definitions and follow-up practices influenced the rates of detection of non-SCID T-cell lymphopenia.Conclusions and relevanceNewborn screening in 11 programs in the United States identified SCID in 1 in 58,000 infants, with high survival. The usefulness of detection of non-SCID T-cell lymphopenias by the same screening remains to be determined.

Published
2014

38. Actionable Diagnosis of Neuroleptospirosis by Next-Generation Sequencing

Author

Wilson, Michael R, Naccache, Samia N, Samayoa, Erik, Biagtan, Mark, Bashir, Hiba, Yu, Guixia, Salamat, Shahriar M, Somasekar, Sneha, Federman, Scot, Miller, Steve, Sokolic, Robert, Garabedian, Elizabeth, Candotti, Fabio, Buckley, Rebecca H, Reed, Kurt D, Meyer, Teresa L, Seroogy, Christine M, Galloway, Renee, Henderson, Sheryl L, Gern, James E, DeRisi, Joseph L, and Chiu, Charles Y

Subjects
Prevention, Biotechnology, Infectious Diseases, Infection, Good Health and Well Being, Adenosine Deaminase, Adolescent, Agammaglobulinemia, Biopsy, Brain, Cerebrospinal Fluid, DNA, Bacterial, Fever, Headache, Humans, Leptospira, Leptospirosis, Male, Meningoencephalitis, Sequence Analysis, DNA, Severe Combined Immunodeficiency, Medical and Health Sciences, General & Internal Medicine
Abstract

A 14-year-old boy with severe combined immunodeficiency presented three times to a medical facility over a period of 4 months with fever and headache that progressed to hydrocephalus and status epilepticus necessitating a medically induced coma. Diagnostic workup including brain biopsy was unrevealing. Unbiased next-generation sequencing of the cerebrospinal fluid identified 475 of 3,063,784 sequence reads (0.016%) corresponding to leptospira infection. Clinical assays for leptospirosis were negative. Targeted antimicrobial agents were administered, and the patient was discharged home 32 days later with a status close to his premorbid condition. Polymerase-chain-reaction (PCR) and serologic testing at the Centers for Disease Control and Prevention (CDC) subsequently confirmed evidence of Leptospira santarosai infection.

Published
2014

39. Validation of Risk Factors for Early Mortality in Cartilage-Hair Hypoplasia.

Author

Vakkilainen, Svetlana, Ahonen, Kira, Marsh, Rebecca, Secord, Elizabeth, Puck, Jennifer, Pozos, Tamara, Seroogy, Christine M., Sullivan, Kathleen E., Walkovich, Kelly, Hartog, Nicholas L., Lugar, Patricia, Herget, Theresia, Garcia-Prat, Marina, Martin-Nalda, Andrea, Ciznar, Peter, Edgar, John David, Candotti, Fabio, Hellige, Antje, Kindle, Gerhard, and Dabrowska-Leonik, Nel

Subjects
SEVERE combined immunodeficiency, RUBELLA, MORTALITY risk factors, HERPES simplex
Abstract

This study examines the clinical features and risk factors associated with early mortality in patients with cartilage-hair hypoplasia (CHH), a rare genetic disorder. The study compares data from three international registries and finds that uncontrolled Epstein-Barr virus (EBV) infection is the only factor significantly correlated with early mortality. The study also notes that allogeneic hematopoietic stem cell transplantation (HSCT) was more common in the USIDNET registry, and that the median age at latest follow-up was shortest in the USIDNET cohort. The study concludes that screening for EBV infection and early management of uncontrolled EBV proliferation should be considered in CHH patients. [Extracted from the article]

Published
2024
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40. SCID genotype and 6-month posttransplant CD4 count predict survival and immune recovery

Author

Haddad, Elie, Logan, Brent R., Griffith, Linda M., Buckley, Rebecca H., Parrott, Roberta E., Prockop, Susan E., Small, Trudy N., Chaisson, Jessica, Dvorak, Christopher C., Murnane, Megan, Kapoor, Neena, Abdel-Azim, Hisham, Hanson, Imelda C., Martinez, Caridad, Bleesing, Jack J.H., Chandra, Sharat, Smith, Angela R., Cavanaugh, Matthew E., Jyonouchi, Soma, Sullivan, Kathleen E., Burroughs, Lauri, Skoda-Smith, Suzanne, Haight, Ann E., Tumlin, Audrey G., Quigg, Troy C., Taylor, Candace, Dávila Saldaña, Blachy J., Keller, Michael D., Seroogy, Christine M., Desantes, Kenneth B., Petrovic, Aleksandra, Leiding, Jennifer W., Shyr, David C., Decaluwe, Hélène, Teira, Pierre, Gillio, Alfred P., Knutsen, Alan P., Moore, Theodore B., Kletzel, Morris, Craddock, John A., Aquino, Victor, Davis, Jeffrey H., Yu, Lolie C., Cuvelier, Geoffrey D.E., Bednarski, Jeffrey J., Goldman, Frederick D., Kang, Elizabeth M., Shereck, Evan, Porteus, Matthew H., Connelly, James A., Fleisher, Thomas A., Malech, Harry L., Shearer, William T., Szabolcs, Paul, Thakar, Monica S., Vander Lugt, Mark T., Heimall, Jennifer, Yin, Ziyan, Pulsipher, Michael A., Pai, Sung-Yun, Kohn, Donald B., Puck, Jennifer M., Cowan, Morton J., O'Reilly, Richard J., and Notarangelo, Luigi D.

Published
2018
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41. FOXN1 compound heterozygous mutations cause selective thymic hypoplasia in humans

Author

Du, Qiumei, Huynh, Larry K., Coskun, Fatma, Molina, Erika, King, Matthew A., Raj, Prithvi, Khan, Shaheen, Dozmorov, Igor, Seroogy, Christine M., Wysocki, Christian A., Padron, Grace T., Yates, Tyler R., Markert, M. Louise, de la Morena, M. Teresa, and van Oers, Nicolai S.C.

Subjects
Thermo Fisher Scientific Inc., Cell differentiation -- Analysis -- Genetic aspects, Transcription (Genetics) -- Analysis -- Genetic aspects, Scientific equipment industry -- Analysis -- Genetic aspects, T cells -- Analysis -- Genetic aspects, DNA, Technology, Health care industry
Abstract

We report on 2 patients with compound heterozygous mutations in forkhead box N1 (FOXN1), a transcription factor essential for thymic epithelial cell (TEC) differentiation. TECs are critical for T cell development. Both patients had a presentation consistent with [T.sup.-/lo][B.sup.+][NK.sup.+] SCID, with normal hair and nails, distinct from the classic nude/SCID phenotype in individuals with autosomal-recessive FOXN1 mutations. To understand the basis of this phenotype and the effects of the mutations on FOXN1, we generated mice using CRISPR-Cas9 technology to genocopy mutations in 1 of the patients. The mice with the Foxn1 compound heterozygous mutations had thymic hypoplasia, causing a [T.sup.-][B.sup.+][NK.sup.+] SCID phenotype, whereas the hair and nails of these mice were normal. Characterization of the functional changes due to the Foxn1 mutations revealed a 5-amino acid segment at the end of the DNA-binding domain essential for the development of TECs but not keratinocytes. The transcriptional activity of this Foxn1 mutant was partly retained, indicating a region that specifies TEC functions. Analysis of an additional 9 FOXN1 mutations identified in multiple unrelated patients revealed distinct functional consequences contingent on the impact of the mutation on the DNA-binding and transactivation domains of FOXN1., Introduction The development of T cells expressing T cell receptors (TCRs) bearing a precise specificity for peptides embedded in self-HLA (MHC) molecules occurs in the thymus. At this site, T [...]

Published
2019
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42. Cross-sectional survey on genetic testing utilization and perceptions in Wisconsin Amish and Mennonite communities

Author

Williams, Katie B., Lasarev, Michael R., Baker, Mei, and Seroogy, Christine M.

Subjects
Epidemiology, Public Health, Environmental and Occupational Health, Original Article, Genetics (clinical)
Abstract

Amish and Mennonite (Plain) communities have increased prevalence of many recessively inherited disorders due to founder variants that can be identified using next-generation sequencing (NGS). We assessed newborn screening (NBS) utilization, prior genetic testing, and perceptions of genetic testing among Wisconsin Plain communities to guide implementation and utilization of a population-specific NGS gene panel testing. A mailed paper survey (N = 959) of demographics, NBS utilization, prior genetic testing, and preferences for categorical genetic disorder and defined clinical context testing was developed. Overall response rate was 39% (N = 378; 183 Amish, 193 Mennonite; 2 not Amish/Mennonite). Mennonites were more likely to respond in favor of carrier screening for metabolic disorders and other surgical conditions and less likely to respond in favor of asymptomatic testing for neurologic disorders and lethal disorders compared to Amish. Reported utilization of NBS was positively associated with stated interest in genetic testing for an asymptomatic child. Reported prior genetic testing was positively associated with stated interest in carrier screening and negatively associated with testing a symptomatic child. Although Plain community members share many common outward characteristics, our survey responses suggest diversity in their views of genetic testing and support laboratory methods that can be flexible to varied needs of individuals. SUPPLEMENTARY INFORMATION: The online version contains supplementary material available at 10.1007/s12687-022-00621-z.

Published
2022
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45. Monogenic early-onset lymphoproliferation and autoimmunity: Natural history of STAT3 gain-of-function syndrome

Author

Leiding, Jennifer W., primary, Vogel, Tiphanie P., additional, Santarlas, Valentine G.J., additional, Mhaskar, Rahul, additional, Smith, Madison R., additional, Carisey, Alexandre, additional, Vargas-Hernández, Alexander, additional, Silva-Carmona, Manuel, additional, Heeg, Maximilian, additional, Rensing-Ehl, Anne, additional, Neven, Bénédicte, additional, Hadjadj, Jérôme, additional, Hambleton, Sophie, additional, Ronan Leahy, Timothy, additional, Meesilpavikai, Kornvalee, additional, Cunningham-Rundles, Charlotte, additional, Dutmer, Cullen M., additional, Sharapova, Svetlana O., additional, Taskinen, Mervi, additional, Chua, Ignatius, additional, Hague, Rosie, additional, Klemann, Christian, additional, Kostyuchenko, Larysa, additional, Morio, Tomohiro, additional, Thatayatikom, Akaluck, additional, Ozen, Ahmet, additional, Scherbina, Anna, additional, Bauer, Cindy S., additional, Flanagan, Sarah E., additional, Gambineri, Eleonora, additional, Giovannini-Chami, Lisa, additional, Heimall, Jennifer, additional, Sullivan, Kathleen E., additional, Allenspach, Eric, additional, Romberg, Neil, additional, Deane, Sean G., additional, Prince, Benjamin T., additional, Rose, Melissa J., additional, Bohnsack, John, additional, Mousallem, Talal, additional, Jesudas, Rohith, additional, Santos Vilela, Maria Marluce Dos, additional, O’Sullivan, Michael, additional, Pachlopnik Schmid, Jana, additional, Průhová, Štěpánka, additional, Klocperk, Adam, additional, Rees, Matthew, additional, Su, Helen, additional, Bahna, Sami, additional, Baris, Safa, additional, Bartnikas, Lisa M., additional, Chang Berger, Amy, additional, Briggs, Tracy A., additional, Brothers, Shannon, additional, Bundy, Vanessa, additional, Chan, Alice Y., additional, Chandrakasan, Shanmuganathan, additional, Christiansen, Mette, additional, Cole, Theresa, additional, Cook, Matthew C., additional, Desai, Mukesh M., additional, Fischer, Ute, additional, Fulcher, David A., additional, Gallo, Silvanna, additional, Gauthier, Amelie, additional, Gennery, Andrew R., additional, Gonçalo Marques, José, additional, Gottrand, Frédéric, additional, Grimbacher, Bodo, additional, Grunebaum, Eyal, additional, Haapaniemi, Emma, additional, Hämäläinen, Sari, additional, Heiskanen, Kaarina, additional, Heiskanen-Kosma, Tarja, additional, Hoffman, Hal M., additional, Gonzalez-Granado, Luis Ignacio, additional, Guerrerio, Anthony L., additional, Kainulainen, Leena, additional, Kumar, Ashish, additional, Lawrence, Monica G., additional, Levin, Carina, additional, Martelius, Timi, additional, Neth, Olaf, additional, Olbrich, Peter, additional, Palma, Alejandro, additional, Patel, Niraj C., additional, Pozos, Tamara, additional, Preece, Kahn, additional, Lugo Reyes, Saúl Oswaldo, additional, Russell, Mark A., additional, Schejter, Yael, additional, Seroogy, Christine, additional, Sinclair, Jan, additional, Skevofilax, Effie, additional, Suan, Daniel, additional, Suez, Daniel, additional, Szabolcs, Paul, additional, Velasco, Helena, additional, Warnatz, Klaus, additional, Walkovich, Kelly, additional, Worth, Austen, additional, Seppänen, Mikko R.J., additional, Torgerson, Troy R., additional, Sogkas, Georgios, additional, Ehl, Stephan, additional, Tangye, Stuart G., additional, Cooper, Megan A., additional, Milner, Joshua D., additional, Forbes Satter, Lisa R., additional, Aleshkevich, Svetlana, additional, Allende, Luis M., additional, Atkinson, T. Prescott, additional, Atschekzei, Faranaz, additional, Aydemir, Sezin, additional, Aygunes, Utku, additional, Barlogis, Vincent, additional, Baumann, Ulrich, additional, Belko, John, additional, Bezrodnik, Liliana, additional, Biebl, Ariane, additional, Broderick, Lori, additional, Bunin, Nancy J., additional, Caldirola, Maria Soledad, additional, Castelle, Martin, additional, Celmeli, Fatih, additional, Charbonnier, Louis-Marie, additional, Chatila, Talal A., additional, Chellapandian, Deepak, additional, Cokugras, Haluk, additional, Conlon, Niall, additional, Cox, Fionnuala, additional, Crickx, Etienne, additional, Dalgic, Buket, additional, ASH Dalm, Virgil, additional, Danielian, Silvia, additional, Dominguez-Pinilla, Nerea, additional, Dujovny, Tal, additional, Ebbo, Mikael, additional, Eken, Ahmet, additional, Esty, Brittany, additional, Fabre, Alexandre, additional, Fischer, Alain, additional, Hannibal, Mark, additional, Huppert, Laura, additional, Ikeda, Marc D., additional, Jolles, Stephen, additional, Jolly, Kent W., additional, Jones, Neil, additional, Kanariou, Maria, additional, Karakoc-Aydiner, Elif, additional, Karamantziani, Theoni, additional, Kelaidi, Charikleia, additional, Keogan, Mary, additional, Pac Kisaarslan, Ayşenur, additional, Kiykim, Ayca, additional, Kotsonis, Kosmas, additional, Kuzmenko, Natalia, additional, Leroy, Sylvie, additional, Lianou, Dimitra, additional, Longhurst, Hilary, additional, Lorenz, Myriam Ricarda, additional, Maffucci, Patrick, additional, Manson, Ania, additional, Marchal, Sarah, additional, Malphettes, Marion, additional, Marega, Lia Furlaneto, additional, Mauracher, Andrea A., additional, Miller, Holly, additional, Mombourquette, Joy, additional, Morgan, Noel G., additional, Mukhina, Anna, additional, Nathalie, Aladjidi, additional, Nelken, Brigitte, additional, Nolan, David, additional, Norlin, Anna-Carin, additional, Oleastro, Matias, additional, Ozcan, Alper, additional, Pasquet, Marlene, additional, Pegler, José Roberto, additional, Picard, Capucine, additional, Polychronopoulou, Sophia, additional, Quartier, Pierre, additional, Quesada, Juan Francisco, additional, Ramakers, Jan, additional, Randall, Katrina L., additional, Rao, V. Koneti, additional, Remiker, Allison, additional, Resin, Geraldine, additional, Richmond, Peter, additional, Rieux-Laucat, Frederic, additional, Rodina, Yulia, additional, Rohrlich, Pierre, additional, Sachs, Johnathan, additional, Sakovich, Inga, additional, Santarlas, Christopher, additional, Sari, Sinan, additional, Sawicki, Gregory, additional, Schauer, Uwe, additional, Scheffler Mendoza, Selma C., additional, Schvetz, Oksana, additional, Schmidt, Reinhold Ernst, additional, Schwarz, Klaus, additional, Sediva, Anna, additional, Sinclair, Kyle, additional, Slatter, Mary, additional, Sleasman, John, additional, Stergiou, Katerina, additional, Suratannon, Narissara, additional, Tanita, Kay, additional, Thompson, Grace, additional, Travis, Stephen, additional, Trojan, Timothy, additional, Tsinti, Maria, additional, Unal, Ekrem, additional, Urdinez, Luciano, additional, Vazquez-Gomez, Felisa, additional, Villa, Mariana, additional, Weinrich, Michael, additional, Weiss, Mitchell J., additional, Wright, Benjamin, additional, Yilmaz, Ebru, additional, Zachova, Radana, additional, and Zhang, Yu, additional

Published
2023
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46. Monogenic early-onset lymphoproliferation and autoimmunity: Natural history of STAT3 gain-of-function syndrome

Author

Leiding, Jennifer W., Vogel, Tiphanie P., Santarlas, Valentine G. J., Mhaskar, Rahul, Smith, Madison R., Carisey, Alexandre, Vargas-Hernández, Alexander, Silva-Carmona, Manuel, Heeg, Maximilian, Rensing-Ehl, Anne, Neven, Bénédicte, Hadjadj, Jérôme, Hambleton, Sophie, Ronan Leahy, Timothy, Meesilpavikai, Kornvalee, Cunningham-Rundles, Charlotte, Dutmer, Cullen M., Sharapova, Svetlana O., Taskinen, Mervi, Chua, Ignatius, Hague, Rosie, Klemann, Christian, Kostyuchenko, Larysa, Morio, Tomohiro, Thatayatikom, Akaluck, Ozen, Ahmet, Scherbina, Anna, Bauer, Cindy S., Flanagan, Sarah E., Gambineri, Eleonora, Giovannini-Chami, Lisa, Heimall, Jennifer, Sullivan, Kathleen E., Allenspach, Eric, Romberg, Neil, Deane, Sean G., Prince, Benjamin T., Rose, Melissa J., Bohnsack, John, Mousallem, Talal, Jesudas, Rohith, Dos Santos Vilela, Maria Marluce, O'Sullivan, Michael, Pachlopnik Schmid, Jana, Průhová, Štěpánka, Klocperk, Adam, Rees, Matthew, Su, Helen, Bahna, Sami, Baris, Safa, Bartnikas, Lisa M., Chang Berger, Amy, Briggs, Tracy A., Brothers, Shannon, Bundy, Vanessa, Chan, Alice Y., Chandrakasan, Shanmuganathan, Christiansen, Mette, Cole, Theresa, Cook, Matthew C., Desai, Mukesh M., Fischer, Ute, Fulcher, David A., Gallo, Silvanna, Gauthier, Amelie, Gennery, Andrew R., Gonçalo Marques, José, Gottrand, Frédéric, Grimbacher, Bodo, Grunebaum, Eyal, Haapaniemi, Emma, Hämäläinen, Sari, Heiskanen, Kaarina, Heiskanen-Kosma, Tarja, Hoffman, Hal M., Gonzalez-Granado, Luis Ignacio, Guerrerio, Anthony L., Kainulainen, Leena, Kumar, Ashish, Lawrence, Monica G., Levin, Carina, Martelius, Timi, Neth, Olaf, Olbrich, Peter, Palma, Alejandro, Patel, Niraj C., Pozos, Tamara, Preece, Kahn, Lugo Reyes, Saúl Oswaldo, Russell, Mark A., Schejter, Yael, Seroogy, Christine, Sinclair, Jan, Skevofilax, Effie, Suan, Daniel, Suez, Daniel, Szabolcs, Paul, Velasco, Helena, Warnatz, Klaus, Walkovich, Kelly, Worth, Austen, STAT3 GOF Working Group members, Seppänen, Mikko R. J., Torgerson, Troy R., Sogkas, Georgios, Ehl, Stephan, Tangye, Stuart G., Cooper, Megan A., Milner, Joshua D., Forbes Satter, Lisa R., Leiding, Jennifer W., Vogel, Tiphanie P., Santarlas, Valentine G. J., Mhaskar, Rahul, Smith, Madison R., Carisey, Alexandre, Vargas-Hernández, Alexander, Silva-Carmona, Manuel, Heeg, Maximilian, Rensing-Ehl, Anne, Neven, Bénédicte, Hadjadj, Jérôme, Hambleton, Sophie, Ronan Leahy, Timothy, Meesilpavikai, Kornvalee, Cunningham-Rundles, Charlotte, Dutmer, Cullen M., Sharapova, Svetlana O., Taskinen, Mervi, Chua, Ignatius, Hague, Rosie, Klemann, Christian, Kostyuchenko, Larysa, Morio, Tomohiro, Thatayatikom, Akaluck, Ozen, Ahmet, Scherbina, Anna, Bauer, Cindy S., Flanagan, Sarah E., Gambineri, Eleonora, Giovannini-Chami, Lisa, Heimall, Jennifer, Sullivan, Kathleen E., Allenspach, Eric, Romberg, Neil, Deane, Sean G., Prince, Benjamin T., Rose, Melissa J., Bohnsack, John, Mousallem, Talal, Jesudas, Rohith, Dos Santos Vilela, Maria Marluce, O'Sullivan, Michael, Pachlopnik Schmid, Jana, Průhová, Štěpánka, Klocperk, Adam, Rees, Matthew, Su, Helen, Bahna, Sami, Baris, Safa, Bartnikas, Lisa M., Chang Berger, Amy, Briggs, Tracy A., Brothers, Shannon, Bundy, Vanessa, Chan, Alice Y., Chandrakasan, Shanmuganathan, Christiansen, Mette, Cole, Theresa, Cook, Matthew C., Desai, Mukesh M., Fischer, Ute, Fulcher, David A., Gallo, Silvanna, Gauthier, Amelie, Gennery, Andrew R., Gonçalo Marques, José, Gottrand, Frédéric, Grimbacher, Bodo, Grunebaum, Eyal, Haapaniemi, Emma, Hämäläinen, Sari, Heiskanen, Kaarina, Heiskanen-Kosma, Tarja, Hoffman, Hal M., Gonzalez-Granado, Luis Ignacio, Guerrerio, Anthony L., Kainulainen, Leena, Kumar, Ashish, Lawrence, Monica G., Levin, Carina, Martelius, Timi, Neth, Olaf, Olbrich, Peter, Palma, Alejandro, Patel, Niraj C., Pozos, Tamara, Preece, Kahn, Lugo Reyes, Saúl Oswaldo, Russell, Mark A., Schejter, Yael, Seroogy, Christine, Sinclair, Jan, Skevofilax, Effie, Suan, Daniel, Suez, Daniel, Szabolcs, Paul, Velasco, Helena, Warnatz, Klaus, Walkovich, Kelly, Worth, Austen, STAT3 GOF Working Group members, Seppänen, Mikko R. J., Torgerson, Troy R., Sogkas, Georgios, Ehl, Stephan, Tangye, Stuart G., Cooper, Megan A., Milner, Joshua D., and Forbes Satter, Lisa R.

Abstract

[Background] In 2014, germline signal transducer and activator of transcription (STAT) 3 gain-of-function (GOF) mutations were first described to cause a novel multisystem disease of early-onset lymphoproliferation and autoimmunity., [Objective] This pivotal cohort study defines the scope, natural history, treatment, and overall survival of a large global cohort of patients with pathogenic STAT3 GOF variants., [Methods] We identified 191 patients from 33 countries with 72 unique mutations. Inclusion criteria included symptoms of immune dysregulation and a biochemically confirmed germline heterozygous GOF variant in STAT3., [Results] Overall survival was 88%, median age at onset of symptoms was 2.3 years, and median age at diagnosis was 12 years. Immune dysregulatory features were present in all patients: lymphoproliferation was the most common manifestation (73%); increased frequencies of double-negative (CD4−CD8−) T cells were found in 83% of patients tested. Autoimmune cytopenias were the second most common clinical manifestation (67%), followed by growth delay, enteropathy, skin disease, pulmonary disease, endocrinopathy, arthritis, autoimmune hepatitis, neurologic disease, vasculopathy, renal disease, and malignancy. Infections were reported in 72% of the cohort. A cellular and humoral immunodeficiency was observed in 37% and 51% of patients, respectively. Clinical symptoms dramatically improved in patients treated with JAK inhibitors, while a variety of other immunomodulatory treatment modalities were less efficacious. Thus far, 23 patients have undergone bone marrow transplantation, with a 62% survival rate., [Conclusion] : STAT3 GOF patients present with a wide array of immune-mediated disease including lymphoproliferation, autoimmune cytopenias, and multisystem autoimmunity. Patient care tends to be siloed, without a clear treatment strategy. Thus, early identification and prompt treatment implementation are lifesaving for STAT3 GOF syndrome.

Published
2023

48. Respiratory health, allergies, and the farm environment: design, methods and enrollment in the observational Wisconsin Infant Study Cohort (WISC): a research proposal

Author

Seroogy, Christine M., VanWormer, Jeffrey J., Olson, Brent F., Evans, Michael D., Johnson, Tara, Cole, Deanna, Barnes, Kathrine L., Koepel, Tamara Kronenwetter, Dresen, Amy, Meece, Jennifer, Gangnon, Ronald E., Keifer, Matthew C., Bendixsen, Casper G., Gern, James E., and the Entire WISC Study Team

Published
2019
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49. The Children’s Respiratory and Environmental Workgroup (CREW) birth cohort consortium: design, methods, and study population

Author

Gern, James E., Jackson, Daniel J., Lemanske, Jr, Robert F., Seroogy, Christine M., Tachinardi, Umberto, Craven, Mark, Hwang, Stephen Y., Hamilton, Carol M., Huggins, Wayne, O’Connor, George T., Gold, Diane R., Miller, Rachel, Kattan, Meyer, Johnson, Christine C., Ownby, Dennis, Zoratti, Edward M., Wood, Robert A., Visness, Cynthia M., Martinez, Fernando, Wright, Anne, Lynch, Susan, Ober, Carole, Khurana Hershey, Gurjit K., Ryan, Patrick, Hartert, Tina, and Bacharier, Leonard B.

Published
2019
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50. Event Free Survival in Severe Combined Immune Deficiency (SCID) Infants after Conditioned Umbilical Cord Blood Transplantation (UCBT) Benefits from Omitting Serotherapy

Author

Martinez, Caridad, primary, Logan, Brent, additional, Liu, Xuerong, additional, Dvorak, Christopher C., additional, Madden, Lisa, additional, Molinari, Lyndsay, additional, Cowan, Morton J., additional, Pai, Sung-Yun, additional, Haddad, Elie, additional, Puck, Jennifer, additional, Kohn, Donald B., additional, Griffith, Linda M., additional, Pulsipher, Michael, additional, Leiding, Jennifer W., additional, Notarangelo, Luigi D., additional, Torgerson, Troy, additional, Marsh, Rebecca A., additional, Cuvelier, Geoff D.E., additional, Prockop, Susan, additional, Buckley, Rebecca H., additional, Kuo, Caroline Y., additional, Yip, Alison, additional, Hershfield, Michael S., additional, Parrott, Roberta E, additional, Ebens, Christen L., additional, Moore, Theodore B., additional, O’Reilly, Richard J., additional, Kapadia, Malika, additional, Kapoor, Neena, additional, Satter, Lisa Forbes, additional, Burroughs, Lauri M., additional, Petrovic, Aleksandra, additional, Thakar, Monica S., additional, Chellapandian, Deepak, additional, Heimall, Jennifer R., additional, Shyr, David C., additional, Bednarski, Jeffrey J, additional, Rayes, Ahmad, additional, Chandrakasan, Shanmuganathan, additional, Quigg, Troy C., additional, Davila, Blachy J, additional, DeSantes, Kenneth, additional, Eissa, Hesham, additional, Goldman, Frederick, additional, Rozmus, Jacob, additional, Shah, Ami J, additional, Lugt, Mark Vander, additional, Keller, Michael D., additional, Sullivan, Kathleen E., additional, Jyonouchi, Soma, additional, Seroogy, Christine, additional, Decaluwe, Helene, additional, Teira, Pierre, additional, Knutsen, Alan P., additional, Kletzel, Morris, additional, Aquino, Victor, additional, Davis, Jeffrey H, additional, and Szabolcs, Paul, additional

Published
2023
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