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1. Heterozygous BTNL8 variants in individuals with multisystem inflammatory syndrome in children (MIS-C).

Author

Bellos, Evangelos, Santillo, Dilys, Vantourout, Pierre, Jackson, Heather, Duret, Amedine, Hearn, Henry, Seeleuthner, Yoann, Talouarn, Estelle, Hodeib, Stephanie, Patel, Harsita, Powell, Oliver, Yeoh, Sophya, Mustafa, Sobia, Habgood-Coote, Dominic, Nichols, Samuel, Estramiana Elorrieta, Leire, DSouza, Giselle, Wright, Victoria, Estrada-Rivadeneyra, Diego, Tremoulet, Adriana, Dummer, Kirsten, Netea, Stejara, Condino-Neto, Antonio, Lau, Yu, Núñez Cuadros, Esmeralda, Toubiana, Julie, Holanda Pena, Marisol, Rieux-Laucat, Frédéric, Luyt, Charles-Edouard, Haerynck, Filomeen, Mège, Jean, Chakravorty, Samya, Haddad, Elie, Morin, Marie-Paule, Metin Akcan, Özge, Keles, Sevgi, Emiroglu, Melike, Alkan, Gulsum, Tüter Öz, Sadiye, Elmas Bozdemir, Sefika, Morelle, Guillaume, Volokha, Alla, Kendir-Demirkol, Yasemin, Sözeri, Betul, Coskuner, Taner, Yahsi, Aysun, Gulhan, Belgin, Kanik-Yuksek, Saliha, Bayhan, Gulsum, Ozkaya-Parlakay, Aslinur, Yesilbas, Osman, Hatipoglu, Nevin, Ozcelik, Tayfun, Belot, Alexandre, Chopin, Emilie, Barlogis, Vincent, Sevketoglu, Esra, Menentoglu, Emin, Gayretli Aydin, Zeynep, Bloomfield, Marketa, AlKhater, Suzan, Cyrus, Cyril, Stepanovskiy, Yuriy, Bondarenko, Anastasiia, Öz, Fatma, Polat, Meltem, Fremuth, Jiří, Lebl, Jan, Geraldo, Amyrath, Jouanguy, Emmanuelle, Carter, Michael, Wellman, Paul, Peters, Mark, Pérez de Diego, Rebeca, Edwards, Lindsey, Chiu, Christopher, Noursadeghi, Mahdad, Bolze, Alexandre, Shimizu, Chisato, Kaforou, Myrsini, Hamilton, Melissa, Herberg, Jethro, Schmitt, Erica, Rodriguez-Palmero, Agusti, Pujol, Aurora, Kim, Jihoon, Cobat, Aurélie, Abel, Laurent, Zhang, Shen-Ying, Casanova, Jean-Laurent, Kuijpers, Taco, Burns, Jane, Levin, Michael, Hayday, Adrian, and Sancho-Shimizu, Vanessa

Subjects
Humans, COVID-19, Child, Systemic Inflammatory Response Syndrome, Male, Female, Butyrophilins, SARS-CoV-2, Child, Preschool, Heterozygote, Adolescent, Genetic Predisposition to Disease, Infant
Abstract

Multisystem inflammatory syndrome in children (MIS-C) is a rare condition following SARS-CoV-2 infection associated with intestinal manifestations. Genetic predisposition, including inborn errors of the OAS-RNAseL pathway, has been reported. We sequenced 154 MIS-C patients and utilized a novel statistical framework of gene burden analysis, burdenMC, which identified an enrichment for rare predicted-deleterious variants in BTNL8 (OR = 4.2, 95% CI: 3.5-5.3, P < 10-6). BTNL8 encodes an intestinal epithelial regulator of Vγ4+γδ T cells implicated in regulating gut homeostasis. Enrichment was exclusive to MIS-C, being absent in patients with COVID-19 or bacterial disease. Using an available functional test for BTNL8, rare variants from a larger cohort of MIS-C patients (n = 835) were tested which identified eight variants in 18 patients (2.2%) with impaired engagement of Vγ4+γδ T cells. Most of these variants were in the B30.2 domain of BTNL8 implicated in sensing epithelial cell status. These findings were associated with altered intestinal permeability, suggesting a possible link between disrupted gut homeostasis and MIS-C-associated enteropathy triggered by SARS-CoV-2.

Published
2024

3. Pediatric COVID-19 severity by SARS-CoV-2 lineage and vaccine status in Canada: an IMPACT study

Author

Farrar, Daniel S., Bettinger, Julie A., Campigotto, Aaron J., Deeks, Shelley L., Drouin, Olivier, Embree, Joanne E., Haddad, Elie, Halperin, Scott A., Jadavji, Tajdin, Kazmi, Kescha, King, Melanie, Moore Hepburn, Charlotte, Papenburg, Jesse, Purewal, Rupeena, Sadarangani, Manish, Sauvé, Laura, Yeung, Rae S. M., Top, Karina A., Kakkar, Fatima, and Morris, Shaun K.

Published
2025
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4. Intestinal microbiome and metabolome signatures in patients with chronic granulomatous disease.

Author

Chandrasekaran, Prabha, Han, Yu, Zerbe, Christa, Heller, Theo, DeRavin, Suk, Kreuzberg, Samantha, Marciano, Beatriz, Siu, Yik, Jones, Drew, Abraham, Roshini, Stephens, Michael, Tsou, Amy, Snapper, Scott, Conlan, Sean, Subramanian, Poorani, Quinones, Mariam, Grou, Caroline, Calderon, Virginie, Deming, Clayton, Leiding, Jennifer, Arnold, Danielle, Logan, Brent, Griffith, Linda, Petrovic, Aleksandra, Mousallem, Talal, Kapoor, Neena, Heimall, Jennifer, Barnum, Jessie, Kapadia, Malika, Wright, Nicola, Rayes, Ahmad, Chandra, Sharat, Broglie, Larisa, Chellapandian, Deepak, Deal, Christin, Grunebaum, Eyal, Lim, Stephanie, Mallhi, Kanwaldeep, Marsh, Rebecca, Murguia-Favela, Luis, Parikh, Suhag, Touzot, Fabien, Cowan, Morton, Dvorak, Christopher, Haddad, Elie, Kohn, Donald, Notarangelo, Luigi, Pai, Sung-Yun, Puck, Jennifer, Pulsipher, Michael, Torgerson, Troy, Kang, Elizabeth, Malech, Harry, Segre, Julia, Bryant, Clare, Holland, Steven, and Falcone, Emilia

Subjects
CGD, Chronic granulomatous disease, IBD, NADPH oxidase, dysbiosis, inborn errors of immunity, inflammatory bowel disease, intestinal inflammation, metabolome, microbiome, primary immune deficiency, Humans, Granulomatous Disease, Chronic, Gastrointestinal Microbiome, NADPH Oxidases, Cross-Sectional Studies, Inflammatory Bowel Diseases
Abstract

BACKGROUND: Chronic granulomatous disease (CGD) is caused by defects in any 1 of the 6 subunits forming the nicotinamide adenine dinucleotide phosphate oxidase complex 2 (NOX2), leading to severely reduced or absent phagocyte-derived reactive oxygen species production. Almost 50% of patients with CGD have inflammatory bowel disease (CGD-IBD). While conventional IBD therapies can treat CGD-IBD, their benefits must be weighed against the risk of infection. Understanding the impact of NOX2 defects on the intestinal microbiota may lead to the identification of novel CGD-IBD treatments. OBJECTIVE: We sought to identify microbiome and metabolome signatures that can distinguish individuals with CGD and CGD-IBD. METHODS: We conducted a cross-sectional observational study of 79 patients with CGD, 8 pathogenic variant carriers, and 19 healthy controls followed at the National Institutes of Health Clinical Center. We profiled the intestinal microbiome (amplicon sequencing) and stool metabolome, and validated our findings in a second cohort of 36 patients with CGD recruited through the Primary Immune Deficiency Treatment Consortium. RESULTS: We identified distinct intestinal microbiome and metabolome profiles in patients with CGD compared to healthy individuals. We observed enrichment for Erysipelatoclostridium spp, Sellimonas spp, and Lachnoclostridium spp in CGD stool samples. Despite differences in bacterial alpha and beta diversity between the 2 cohorts, several taxa correlated significantly between both cohorts. We further demonstrated that patients with CGD-IBD have a distinct microbiome and metabolome profile compared to patients without CGD-IBD. CONCLUSION: Intestinal microbiome and metabolome signatures distinguished patients with CGD and CGD-IBD, and identified potential biomarkers and therapeutic targets.

Published
2023

5. 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

7. The diagnosis of severe combined immunodeficiency: Implementation of the PIDTC 2022 Definitions.

Author

Pai, Sung-Yun, Kapoor, Neena, Satter, Lisa, Buckley, Rebecca, OReilly, Richard, Chandra, Sharat, Bednarski, Jeffrey, Williams, Olatundun, Rayes, Ahmad, Moore, Theodore, Ebens, Christen, Davila Saldana, Blachy, Petrovic, Aleksandra, Chellapandian, Deepak, Cuvelier, Geoffrey, Vander Lugt, Mark, Caywood, Emi, Chandrakasan, Shanmuganathan, Eissa, Hesham, Goldman, Frederick, Shereck, Evan, Aquino, Victor, Desantes, Kenneth, Madden, Lisa, Miller, Holly, Yu, Lolie, Broglie, Larisa, Gillio, Alfred, Shah, Ami, Knutsen, Alan, Andolina, Jeffrey, Joshi, Avni, Szabolcs, Paul, Kapadia, Malika, Martinez, Caridad, Parrot, Roberta, Sullivan, Kathleen, Prockop, Susan, Abraham, Roshini, Thakar, Monica, Leiding, Jennifer, Haddad, Elie, Heimall, Jennifer, Dunn, Elizabeth, Pulsipher, Michael, Griffith, Linda, Notarangelo, Luigi, Dvorak, Christopher, Puck, Jennifer, Cowan, Morton, and Kohn, Donald

Subjects
Omenn syndrome, SCID, Severe combined immunodeficiency, leaky/atypical SCID, newborn screening, typical SCID, Infant, Newborn, Humans, Infant, Severe Combined Immunodeficiency, Retrospective Studies, Prospective Studies, Homeodomain Proteins
Abstract

BACKGROUND: Shearer et al in 2014 articulated well-defined criteria for the diagnosis and classification of severe combined immunodeficiency (SCID) as part of the Primary Immune Deficiency Treatment Consortiums (PIDTCs) prospective and retrospective studies of SCID. OBJECTIVE: Because of the advent of newborn screening for SCID and expanded availability of genetic sequencing, revision of the PIDTC 2014 Criteria was needed. METHODS: We developed and tested updated PIDTC 2022 SCID Definitions by analyzing 379 patients proposed for prospective enrollment into Protocol 6901, focusing on the ability to distinguish patients with various SCID subtypes. RESULTS: According to PIDTC 2022 Definitions, 18 of 353 patients eligible per 2014 Criteria were considered not to have SCID, whereas 11 of 26 patients ineligible per 2014 Criteria were determined to have SCID. Of note, very low numbers of autologous T cells (

Published
2023

8. The diagnosis of severe combined immunodeficiency (SCID): The Primary Immune Deficiency Treatment Consortium (PIDTC) 2022 Definitions.

Author

Pai, Sung-Yun, Griffith, Linda, Cuvelier, Geoffrey, Eissa, Hesham, Shah, Ami, OReilly, Richard, Pulsipher, Michael, Wright, Nicola, Abraham, Roshini, Satter, Lisa, Notarangelo, Luigi, Haddad, Elie, Heimall, Jennifer, Dunn, Elizabeth, Buckley, Rebecca, Dvorak, Christopher, Puck, Jennifer, Cowan, Morton, and Kohn, Donald

Subjects
Omenn syndrome, SCID, Severe combined immunodeficiency, leaky/atypical SCID, newborn screening, typical SCID, Humans, Severe Combined Immunodeficiency, Immunologic Deficiency Syndromes, CD4-Positive T-Lymphocytes, Thymus Gland, Receptors, Antigen, T-Cell
Abstract

Severe combined immunodeficiency (SCID) results from defects in the differentiation of hematopoietic stem cells into mature T lymphocytes, with additional lymphoid lineages affected in particular genotypes. In 2014, the Primary Immune Deficiency Treatment Consortium published criteria for diagnosing SCID, which are now revised to incorporate contemporary approaches. Patients with typical SCID must have less than 0.05 × 109 autologous T cells/L on repetitive testing, with either pathogenic variant(s) in a SCID-associated gene, very low/undetectable T-cell receptor excision circles or less than 20% of CD4 T cells expressing naive markers, and/or transplacental maternally engrafted T cells. Patients with less profoundly impaired autologous T-cell differentiation are designated as having leaky/atypical SCID, with 2 or more of these: low T-cell numbers, oligoclonal T cells, low T-cell receptor excision circles, and less than 20% of CD4 T cells expressing naive markers. These patients must also have either pathogenic variant(s) in a SCID-associated gene or reduced T-cell proliferation to certain mitogens. Omenn syndrome requires a generalized erythematous rash, absent transplacentally acquired maternal engraftment, and 2 or more of these: eosinophilia, elevated IgE, lymphadenopathy, hepatosplenomegaly. Thymic stromal defects and other causes of secondary T-cell deficiency are excluded from the definition of SCID. Application of these revised Primary Immune Deficiency Treatment Consortium 2022 Definitions permits precise categorization of patients with T-cell defects but does not imply a preferred treatment strategy.

Published
2023

12. Granulocyte Transfusions in Patients with Chronic Granulomatous Disease Undergoing Hematopoietic Cell Transplantation or Gene Therapy

Author

Arnold, Danielle E, Chellapandian, Deepak, Parikh, Suhag, Mallhi, Kanwaldeep, Marsh, Rebecca A, Heimall, Jennifer R, Grossman, Debra, Chitty-Lopez, Maria, Murguia-Favela, Luis, Gennery, Andrew R, Boulad, Farid, Arbuckle, Erin, Cowan, Morton J, Dvorak, Christopher C, Griffith, Linda M, Haddad, Elie, Kohn, Donald B, Notarangelo, Luigi D, Pai, Sung-Yun, Puck, Jennifer M, Pulsipher, Michael A, Torgerson, Troy, Kang, Elizabeth M, Malech, Harry L, and Leiding, Jennifer W

Subjects
Biomedical and Clinical Sciences, Immunology, Transplantation, Clinical Research, Hematology, Inflammatory and immune system, Genetic Therapy, Graft vs Host Disease, Granulocytes, Granulomatous Disease, Chronic, Hematopoietic Stem Cell Transplantation, Humans, Retrospective Studies, Transplantation Conditioning, Granulocyte transfusions, Chronic granulomatous disease, Alloimmunization, Hematopoietic cell transplantation, Graft failure
Abstract

Granulocyte transfusions are sometimes used as adjunctive therapy for the treatment of infection in patients with chronic granulomatous disease (CGD). However, granulocyte transfusions can be associated with a high rate of alloimmunization, and their role in CGD patients undergoing hematopoietic cell transplantation (HCT) or gene therapy (GT) is unknown. We identified 27 patients with CGD who received granulocyte transfusions pre- (within 6 months) and/or post-HCT or GT in a retrospective survey. Twelve patients received granulocyte transfusions as a bridge to cellular therapy. Six (50%) of these patients had a complete or partial response. However, six of 10 (60%) patients for whom testing was performed developed anti-HLA antibodies, and three of the patients also had severe immune-mediated cytopenia within the first 100 days post-HCT or GT. Fifteen patients received granulocyte transfusions post-HCT only. HLA antibodies were not checked for any of these 15 patients, but there were no cases of early immune-mediated cytopenia. Out of 25 patients who underwent HCT, there were 5 (20%) cases of primary graft failure. Three of the patients with primary graft failure had received granulocyte transfusions pre-HCT and were subsequently found to have anti-HLA antibodies. In this small cohort of patients with CGD, granulocyte transfusions pre-HCT or GT were associated with high rates of alloimmunization, primary graft failure, and early severe immune-mediated cytopenia post-HCT or GT. Granulocyte transfusions post-HCT do not appear to confer an increased risk of graft failure.

Published
2022

13. Paediatric inflammatory multisystem syndrome in Canada: population-based surveillance and role of SARS-CoV-2 linkage

Author

El Tal, Tala, Morin, Marie-Paule, Morris, Shaun K., Farrar, Daniel S., Berard, Roberta A., Kakkar, Fatima, Moore Hepburn, Charlotte, Baerg, Krista, Beaufils, Camille, Bennett, Terri-Lyn, Benseler, Susanne M., Beaudoin-Bussières, Guillaume, Chan, Kevin, Cyr, Claude, Dahdah, Nagib, Donner, Elizabeth J., Drouin, Olivier, Edjoc, Rojiemiahd, Eljaouhari, Maryem, Embree, Joanne E., Farrell, Catherine, Finzi, Andrés, Forgie, Sarah, Giroux, Ryan, Kang, Kristopher T., King, Melanie, Laffin Thibodeau, Melanie, Lang, Bianca, Laxer, Ronald M., Luu, Thuy Mai, McCrindle, Brian W., Orkin, Julia, Papenburg, Jesse, Pound, Catherine M., Price, Victoria E., Proulx-Gauthier, Jean-Philippe, Purewal, Rupeena, Sadarangani, Manish, Salvadori, Marina I., Thibeault, Roseline, Top, Karina A., Viel-Thériault, Isabelle, Haddad, Elie, Scuccimarri, Rosie, and Yeung, Rae S. M.

Published
2023
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14. Allogeneic hematopoietic cell transplantation is effective for p47phox chronic granulomatous disease: A Primary Immune Deficiency Treatment Consortium study

Author

Grunebaum, Eyal, Arnold, Danielle E., Logan, Brent, Parikh, Suhag, Marsh, Rebecca A., Griffith, Linda M., Mallhi, Kanwaldeep, Chellapandian, Deepak, Lim, Stephanie Si, Deal, Christin L., Kapoor, Neena, Murguía-Favela, Luis, Falcone, Emilia Liana, Prasad, Vinod K., Touzot, Fabien, Bleesing, Jack J., Chandrakasan, Shanmuganathan, Heimall, Jennifer R., Bednarski, Jeffrey J., Broglie, Larisa A., Chong, Hey Jin, Kapadia, Malika, Prockop, Susan, Dávila Saldaña, Blachy J., Schaefer, Edo, Bauchat, Andrea L., Teira, Pierre, Chandra, Sharat, Parta, Mark, Cowan, Morton J., Dvorak, Christopher C., Haddad, Elie, Kohn, Donald B., Notarangelo, Luigi D., Pai, Sung-Yun, Puck, Jennifer M., Pulsipher, Michael A., Torgerson, Troy R., Malech, Harry L., Kang, Elizabeth M., and Leiding, Jennifer W.

Published
2024
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15. Relevance of lymphocyte proliferation to PHA in severe combined immunodeficiency (SCID) and T cell lymphopenia

Author

Abraham, Roshini S., Basu, Amrita, Heimall, Jennifer R., Dunn, Elizabeth, Yip, Alison, Kapadia, Malika, Kapoor, Neena, Satter, Lisa Forbes, Buckley, Rebecca, O'Reilly, Richard, Cuvelier, Geoffrey D.E., Chandra, Sharat, Bednarski, Jeffrey, Chaudhury, Sonali, Moore, Theodore B., Haines, Hilary, Dávila Saldaña, Blachy J., Chellapandian, Deepakbabu, Rayes, Ahmad, Chen, Karin, Caywood, Emi, Chandrakasan, Shanmuganathan, Lugt, Mark Thomas Vander, Ebens, Christen, Teira, Pierre, Shereck, Evan, Miller, Holly, Aquino, Victor, Eissa, Hesham, Yu, Lolie C., Gillio, Alfred, Madden, Lisa, Knutsen, Alan, Shah, Ami J., DeSantes, Kenneth, Barnum, Jessie, Broglie, Larisa, Joshi, Avni Y., Kleiner, Gary, Dara, Jasmeen, Prockop, Susan, Martinez, Caridad, Mousallem, Talal, Oved, Joseph, Burroughs, Lauri, Marsh, Rebecca, Torgerson, Troy R., Leiding, Jennifer W., Pai, Sung Yun, Kohn, Donald B., Pulsipher, Michael A., Griffith, Linda M., Notarangelo, Luigi D., Cowan, Morton J., Puck, Jennifer, Dvorak, Christopher C., and Haddad, Elie

Published
2024
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16. Correction to: Clinical Practice Guidelines for the Immunological Management of Chromosome 22q11.2 Deletion Syndrome and Other Defects in Thymic Development

Author

Mustillo, Peter J., Sullivan, Kathleen E., Chinn, Ivan K., Notarangelo, Luigi D., Haddad, Elie, Davies, E. Graham, de la Morena, Maria Teresa, Hartog, Nicholas, Yu, Joyce E., Hernandez-Trujillo, Vivian P., Ip, Winnie, Franco, Jose, Gambineri, Eleonora, Hickey, Scott E., Varga, Elizabeth, and Markert, M. Louise

Published
2024
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20. Posttransplantation late complications increase over time for patients with SCID: A Primary Immune Deficiency Treatment Consortium (PIDTC) landmark study

Author

Eissa, Hesham, Thakar, Monica S., Shah, Ami J., Logan, Brent R., Griffith, Linda M., Dong, Huaying, Parrott, Roberta E., O’Reilly, Richard J., Dara, Jasmeen, Kapoor, Neena, Forbes Satter, Lisa, Chandra, Sharat, Kapadia, Malika, Chandrakasan, Shanmuganathan, Knutsen, Alan, Jyonouchi, Soma C., Molinari, Lyndsay, Rayes, Ahmad, Ebens, Christen L., Teira, Pierre, Dávila Saldaña, Blachy J., Burroughs, Lauri M., Chaudhury, Sonali, Chellapandian, Deepak, Gillio, Alfred P., Goldman, Fredrick, Malech, Harry L., DeSantes, Kenneth, Cuvelier, Geoff D.E., Rozmus, Jacob, Quinones, Ralph, Yu, Lolie C., Broglie, Larisa, Aquino, Victor, Shereck, Evan, Moore, Theodore B., Vander Lugt, Mark T., Mousallem, Talal I., Oved, Joeseph H., Dorsey, Morna, Abdel-Azim, Hisham, Martinez, Caridad, Bleesing, Jacob H., Prockop, Susan, Kohn, Donald B., Bednarski, Jeffrey J., Leiding, Jennifer, Marsh, Rebecca A., Torgerson, Troy, Notarangelo, Luigi D., Pai, Sung-Yun, Pulsipher, Michael A., Puck, Jennifer M., Dvorak, Christopher C., Haddad, Elie, Buckley, Rebecca H., Cowan, Morton J., and Heimall, Jennifer

Published
2024
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21. PLCG2-associated immune dysregulation (PLAID) comprises broad and distinct clinical presentations related to functional classes of genetic variants

Author

Abbott, Jordan K., Aldave Becerra, Juan Carlos, Allenspach, Eric J., Assing, Kristian, Atkinson, T. Prescott, Bargir, Umair A., Baxter, Sarah K., Bergerson, Jenna R.E., Bista, Ranjan, Blanche, Stephane, Buckley, Lenore M., Butte, Manish, Carcamo, Benjamin, Chandrakala, Shanmukhaiah, Chen, Karin, Chervinskiy, Sheva, Chinn, Ivan K., Chong, Hey J., Coffey, Kara E., Copland, Andrew P., Cowen, Edward W., Cros, Guilhem, De Bruycker, Jean Jacques, Teresa de la Morena, Maria, Ehlayel, Mohammed, Forbes Satter, Lisa R., Gelfand, Erwin W., Gilliaux, Olivier, Glover, Sara C., Gorman, Mark, Griffin, Thomas A., Grimbacher, Bodo, Gru, Alejandro A., Haddad, Elie, Hadjadj, Jerome, Hajjar, Joud, Hauck, Fabian, Hautala, Timo, Holland, Steven M., Hsieh, Elena W.Y., Hsu, Florence Ida, Jacquemin, Emmanuel, Jindal, Ankur Kumar, Kahn, Stacy A., Keller, Michael D., Kobayashi, Roger H., Krupski, Christa, Larkin, Allyson, Lawrence, Monica G., Madkaikar, Manisha, Malphettes, Marion, Martelius, Timi, Mehta, Mehek, Metcalfe, Dean D., Meyts, Isabelle, Nannapaneni, Naveen, Ocejo Vinyals, J. Gonzalo, Olivier, Kenneth, Ombrello, Amanda K., Orange, Jordan S., Rabinovitch, Nathan, Rauscher, Christine K., Redfern, Ann, Reynolds, Paul R., Rieux-Laucat, Frederic, Secord, Elizabeth, Seeborg, Filiz O., Seppänen, Mikko R.J., Sereti, Irini, Shin, Daniel S., Shin, Junghee J., Snapper, Scott B., Suri, Deepti, Tangcheewinsirikul, Sirikarn, Thatayatikom, Akaluck, Torgerson, Troy, Touzot, Fabien, Uzel, Gulbu, Varjosalo, Markku, Vasconcelos, Dewton F.P., von Bernuth, Horst, Walsh, Thomas, Walter, Jolan E., Ward, Brant R., Wittkowski, Helmut, Wysocki, Christian A., Baysac, Kathleen, Sun, Guangping, Nakano, Hiroto, Schmitz, Elizabeth G., Cruz, Anthony C., Fisher, Charles, Bailey, Alexis C., Mace, Emily, Milner, Joshua D., and Ombrello, Michael J.

Published
2024
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22. Genotype, oxidase status, and preceding infection or autoinflammation do not affect allogeneic HCT outcomes for CGD

Author

Leiding, Jennifer W., Arnold, Danielle E., Parikh, Suhag, Logan, Brent, Marsh, Rebecca A., Griffith, Linda M., Wu, Ruizhe, Kidd, Sharon, Mallhi, Kanwaldeep, Chellapandian, Deepak, Si Lim, Stephanie J., Grunebaum, Eyal, Falcone, E. Liana, Murguia-Favela, Luis, Grossman, Debbi, Prasad, Vinod K., Heimall, Jennifer R., Touzot, Fabien, Burroughs, Lauri M., Bleesing, Jack, Kapoor, Neena, Dara, Jasmeen, Williams, Olatundun, Kapadia, Malika, Oshrine, Benjamin R., Bednarski, Jeffrey J., Rayes, Ahmad, Chong, Hey, Cuvelier, Geoffrey D. E., Forbes Satter, Lisa R., Martinez, Caridad, Vander Lugt, Mark T., Yu, Lolie C., Chandrakasan, Shanmuganathan, Joshi, Avni, Prockop, Susan E., Dávila Saldaña, Blachy J., Aquino, Victor, Broglie, Larisa A., Ebens, Christen L., Madden, Lisa M., DeSantes, Kenneth, Milner, Jordan, Rangarajan, Hemalatha G., Shah, Ami J., Gillio, Alfred P., Knutsen, Alan P., Miller, Holly K., Moore, Theodore B., Graham, Pamela, Bauchat, Andrea, Bunin, Nancy J., Teira, Pierre, Petrovic, Aleksandra, Chandra, Sharat, Abdel-Azim, Hisham, Dorsey, Morna J., Birbrayer, Olga, Cowan, Morton J., Dvorak, Christopher C., Haddad, Elie, Kohn, Donald B., Notarangelo, Luigi D., Pai, Sung-Yun, Puck, Jennifer M., Pulsipher, Michael A., Torgerson, Troy R., Malech, Harry L., and Kang, Elizabeth M.

Published
2023
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23. 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

25. Repurposing disulfiram, an alcohol-abuse drug, in neuroblastoma causes KAT2A downregulation and in vivo activity with a water/oil emulsion

Author

Beaudry, Annie, Jacques-Ricard, Simon, Darracq, Anaïs, Sgarioto, Nicolas, Garcia, Araceli, García, Teresita Rode, Lemieux, William, Béland, Kathie, Haddad, Elie, Cordeiro, Paulo, Duval, Michel, McGraw, Serge, Richer, Chantal, Caron, Maxime, Marois, François, St-Onge, Pascal, Sinnett, Daniel, Banquy, Xavier, and Raynal, Noël J.-M.

Published
2023
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26. Correction: Chronic Granulomatous Disease-Associated IBD Resolves and Does Not Adversely Impact Survival Following Allogeneic HCT.

Author

Marsh, Rebecca, Leiding, Jennifer, Logan, Brent, Griffith, Linda, Arnold, Danielle, Haddad, Elie, Falcone, E, Yin, Ziyan, Patel, Kadam, Arbuckle, Erin, Bleesing, Jack, Sullivan, Kathleen, Heimall, Jennifer, Burroughs, Lauri, Skoda-Smith, Suzanne, Chandrakasan, Shanmuganathan, Yu, Lolie, Oshrine, Benjamin, Cuvelier, Geoffrey, Thakar, Monica, Chen, Karin, Teira, Pierre, Shenoy, Shalini, Phelan, Rachel, Forbes, Lisa, Martinez, Caridad, Chellapandian, Deepak, Dávila Saldaña, Blachy, Shah, Ami, Weinacht, Katja, Joshi, Avni, Boulad, Farid, Quigg, Troy, Grossman, Debi, Torgerson, Troy, Graham, Pamela, Prasad, Vinod, Knutsen, Alan, Chong, Hey, Miller, Holly, de la Morena, M, DeSantes, Kenneth, Stenger, Elizabeth, Pai, Sung-Yun, Routes, John, Kapoor, Neena, Pulsipher, Michael, Malech, Harry, Parikh, Suhag, Kang, Elizabeth, Notarangelo, Luigi, Dvorak, Christopher, Puck, Jennifer, Cowan, Morton, and Kohn, Donald

Abstract

The original version of this article unfortunately contained the missing author, Caridad Martinez. The authors would like to correct the list. We apologize for any inconvenience that this may have caused. The correct author list is shown above.

Published
2020

27. Diagnostic assay to assist clinical decisions for unclassified severe combined immune deficiency

Author

Bifsha, Panojot, Leiding, Jennifer W, Pai, Sung-Yun, Colamartino, Aurelien BL, Hartog, Nicholas, Church, Joseph A, Oshrine, Benjamin R, Puck, Jennifer M, Markert, M Louise, and Haddad, Elie

Subjects
Clinical Research, Stem Cell Research - Nonembryonic - Human, Stem Cell Research, Agammaglobulinemia, Animals, Mice, Mice, SCID, Severe Combined Immunodeficiency
Abstract

3D organoid T-cell differentiation from a few hundred peripheral blood CD34+ cells was successfully achieved. 3D organoid T-cell differentiation could help physicians distinguish intrinsic from extrinsic defects underlying a clinical SCID phenotype.

Published
2020

29. Clinical Practice Guidelines for the Immunological Management of Chromosome 22q11.2 Deletion Syndrome and Other Defects in Thymic Development

Author

Mustillo, Peter J., Sullivan, Kathleen E., Chinn, Ivan K., Notarangelo, Luigi D., Haddad, Elie, Davies, E. Graham, de la Morena, Maria Teresa, Hartog, Nicholas, Yu, Joyce E., Hernandez-Trujillo, Vivian P., Ip, Winnie, Franco, Jose, Gambineri, Eleonora, Hickey, Scott E., Varga, Elizabeth, and Markert, M. Louise

Published
2023
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32. Generation of functional human T cell development in NOD/SCID/IL2rγnull humanized mice without using fetal tissue: Application as a model of HIV infection and persistence

Author

Colas, Chloé, Volodina, Olga, Béland, Kathie, Pham, Tram N.Q., Li, Yuanyi, Dallaire, Frédéric, Soulard, Clara, Lemieux, William, Colamartino, Aurélien B.L., Tremblay-Laganière, Camille, Dicaire, Renée, Guimond, Jean, Vobecky, Suzanne, Poirier, Nancy, Patey, Natasha, Cohen, Éric A., and Haddad, Elie

Published
2023
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33. The diagnosis of severe combined immunodeficiency: Implementation of the PIDTC 2022 Definitions

Author

Dvorak, Christopher C., Haddad, Elie, Heimall, Jennifer, Dunn, Elizabeth, Cowan, Morton J., Pai, Sung-Yun, Kapoor, Neena, Satter, Lisa Forbes, Buckley, Rebecca H., O’Reilly, Richard J., Chandra, Sharat, Bednarski, Jeffrey J., Williams, Olatundun, Rayes, Ahmad, Moore, Theodore B., Ebens, Christen L., Davila Saldana, Blachy J., Petrovic, Aleksandra, Chellapandian, Deepak, Cuvelier, Geoffrey D.E., Vander Lugt, Mark T., Caywood, Emi H., Chandrakasan, Shanmuganathan, Eissa, Hesham, Goldman, Frederick D., Shereck, Evan, Aquino, Victor M., Desantes, Kenneth B., Madden, Lisa M., Miller, Holly K., Yu, Lolie, Broglie, Larisa, Gillio, Alfred, Shah, Ami J., Knutsen, Alan P., Andolina, Jeffrey P., Joshi, Avni Y., Szabolcs, Paul, Kapadia, Malika, Martinez, Caridad A., Parrot, Roberta E., Sullivan, Kathleen E., Prockop, Susan E., Abraham, Roshini S., Thakar, Monica S., Leiding, Jennifer W., Kohn, Donald B., Pulsipher, Michael A., Griffith, Linda M., Notarangelo, Luigi D., and Puck, Jennifer M.

Published
2023
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34. The diagnosis of severe combined immunodeficiency (SCID): The Primary Immune Deficiency Treatment Consortium (PIDTC) 2022 Definitions

Author

Dvorak, Christopher C., Haddad, Elie, Heimall, Jennifer, Dunn, Elizabeth, Buckley, Rebecca H., Kohn, Donald B., Cowan, Morton J., Pai, Sung-Yun, Griffith, Linda M., Cuvelier, Geoffrey D.E., Eissa, Hesham, Shah, Ami J., O’Reilly, Richard J., Pulsipher, Michael A., Wright, Nicola A.M., Abraham, Roshini S., Satter, Lisa Forbes, Notarangelo, Luigi D., and Puck, Jennifer M.

Published
2023
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35. Molecular basis for antiviral activity of two pediatric neutralizing antibodies targeting SARS-CoV-2 Spike RBD

Author

Chen, Yaozong, Prévost, Jérémie, Ullah, Irfan, Romero, Hugo, Lisi, Veronique, Tolbert, William D., Grover, Jonathan R., Ding, Shilei, Gong, Shang Yu, Beaudoin-Bussières, Guillaume, Gasser, Romain, Benlarbi, Mehdi, Vézina, Dani, Anand, Sai Priya, Chatterjee, Debashree, Goyette, Guillaume, Grunst, Michael W., Yang, Ziwei, Bo, Yuxia, Zhou, Fei, Béland, Kathie, Bai, Xiaoyun, Zeher, Allison R., Huang, Rick K., Nguyen, Dung N., Sherburn, Rebekah, Wu, Di, Piszczek, Grzegorz, Paré, Bastien, Matthies, Doreen, Xia, Di, Richard, Jonathan, Kumar, Priti, Mothes, Walther, Côté, Marceline, Uchil, Pradeep D., Lavallée, Vincent-Philippe, Smith, Martin A., Pazgier, Marzena, Haddad, Elie, and Finzi, Andrés

Published
2023
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36. Aberrant T-cell exhaustion in severe combined immunodeficiency survivors with poor T-cell reconstitution after transplantation

Author

Labrosse, Roxane, Boufaied, Ines, Bourdin, Benoîte, Gona, Saideep, Randolph, Haley E., Logan, Brent R., Bourbonnais, Sara, Berthe, Chloé, Chan, Wendy, Buckley, Rebecca H., Parrott, Roberta E., Cuvelier, Geoffrey D.E., Kapoor, Neena, Chandra, Sharat, Dávila Saldaña, Blachy J., Eissa, Hesham, Goldman, Fred D., Heimall, Jennifer, O’Reilly, Richard, Chaudhury, Sonali, Kolb, Edward A., Shenoy, Shalini, Griffith, Linda M., Pulsipher, Michael, Kohn, Donald B., Notarangelo, Luigi D., Pai, Sung-Yun, Cowan, Morton J., Dvorak, Christopher C., Haddad, Élie, Puck, Jennifer M., Barreiro, Luis B., and Decaluwe, Hélène

Published
2023
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38. 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

39. Chronic Granulomatous Disease-Associated IBD Resolves and Does Not Adversely Impact Survival Following Allogeneic HCT.

Author

Marsh, Rebecca A, Leiding, Jennifer W, Logan, Brent R, Griffith, Linda M, Arnold, Danielle E, Haddad, Elie, Falcone, E Liana, Yin, Ziyan, Patel, Kadam, Arbuckle, Erin, Bleesing, Jack J, Sullivan, Kathleen E, Heimall, Jennifer, Burroughs, Lauri M, Skoda-Smith, Suzanne, Chandrakasan, Shanmuganathan, Yu, Lolie C, Oshrine, Benjamin R, Cuvelier, Geoffrey DE, Thakar, Monica S, Chen, Karin, Teira, Pierre, Shenoy, Shalini, Phelan, Rachel, Forbes, Lisa R, Chellapandian, Deepak, Dávila Saldaña, Blachy J, Shah, Ami J, Weinacht, Katja G, Joshi, Avni, Boulad, Farid, Quigg, Troy C, Dvorak, Christopher C, Grossman, Debi, Torgerson, Troy, Graham, Pamela, Prasad, Vinod, Knutsen, Alan, Chong, Hey, Miller, Holly, de la Morena, M Teresa, DeSantes, Kenneth, Cowan, Morton J, Notarangelo, Luigi D, Kohn, Donald B, Stenger, Elizabeth, Pai, Sung-Yun, Routes, John M, Puck, Jennifer M, Kapoor, Neena, Pulsipher, Michael A, Malech, Harry L, Parikh, Suhag, Kang, Elizabeth M, and submitted on behalf of the Primary Immune Deficiency Treatment Consortium

Subjects
submitted on behalf of the Primary Immune Deficiency Treatment Consortium, Neutrophils, Transplantation Chimera, Humans, Inflammatory Bowel Diseases, Granulomatous Disease, Chronic, Graft vs Host Disease, Leukocyte Count, Prognosis, Treatment Outcome, Hematopoietic Stem Cell Transplantation, Transplantation, Homologous, Severity of Illness Index, Incidence, Retrospective Studies, Adolescent, Adult, Child, Child, Preschool, Infant, Female, Male, Young Adult, Allogeneic hematopoietic cell transplantation, allogeneic bone marrow transplantation, allogeneic hematopoietic stem cell transplantation, chronic granulomatous disease, inflammatory bowel disease, primary immunodeficiency, Autoimmune Disease, Inflammatory Bowel Disease, Digestive Diseases, Rare Diseases, Clinical Research, Transplantation, Oral and gastrointestinal, Immunology
Abstract

IntroductionInflammatory bowel disease (IBD) affects approximately 1/3 of patients with chronic granulomatous disease (CGD). Comprehensive investigation of the effect of allogeneic hematopoietic cell transplantation (HCT) on CGD IBD and the impact of IBD on transplant outcomes is lacking.MethodsWe collected data retrospectively from 145 patients with CGD who had received allogeneic HCT at 26 Primary Immune Deficiency Treatment Consortium (PIDTC) centers between January 1, 2005 and June 30, 2016.ResultsForty-nine CGD patients with IBD and 96 patients without IBD underwent allogeneic HCT. Eighty-nine percent of patients with IBD and 93% of patients without IBD engrafted (p = 0.476). Upper gastrointestinal acute GVHD occurred in 8.5% of patients with IBD and 3.5% of patients without IBD (p = 0.246). Lower gastrointestinal acute GVHD occurred in 10.6% of patients with IBD and 11.8% of patients without IBD (p = 0.845). The cumulative incidence of acute GVHD grades II-IV was 30% (CI 17-43%) in patients with IBD and 20% (CI 12-29%) in patients without IBD (p = 0.09). Five-year overall survival was equivalent for patients with and without IBD: 80% [CI 66-89%] and 83% [CI 72-90%], respectively (p = 0.689). All 33 surviving evaluable patients with a history of IBD experienced resolution of IBD by 2 years following allogeneic HCT.ConclusionsIn this cohort, allogeneic HCT was curative for CGD-associated IBD. IBD should not contraindicate HCT, as it does not lead to an increased risk of mortality. This study is registered at clinicaltrials.gov NCT02082353.

Published
2019

42. :המודקה הנבי

Author

Nadav-Ziv, Liat, primary, Haddad, Elie, additional, Seligman, Jon, additional, Varga, Daniel, additional, and Betzer, Pablo, additional

Published
2022
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46. Outcomes following treatment for ADA-deficient severe combined immunodeficiency: a report from the PIDTC

Author

Cuvelier, Geoffrey D.E., Logan, Brent R., Prockop, Susan E., Buckley, Rebecca H., Kuo, Caroline Y., Griffith, Linda M., Liu, Xuerong, Yip, Alison, Hershfield, Michael S., Ayoub, Paul G., Moore, Theodore B., Dorsey, Morna J., O'Reilly, Richard J., Kapoor, Neena, Pai, Sung-Yun, Kapadia, Malika, Ebens, Christen L., Forbes Satter, Lisa R., Burroughs, Lauri M., Petrovic, Aleksandra, Chellapandian, Deepak, Heimall, Jennifer, Shyr, David C., Rayes, Ahmad, Bednarski, Jeffrey J., Chandra, Sharat, Chandrakasan, Shanmuganathan, Gillio, Alfred P., Madden, Lisa, Quigg, Troy C., Caywood, Emi H., Dávila Saldaña, Blachy J., DeSantes, Kenneth, Eissa, Hesham, Goldman, Frederick D., Rozmus, Jacob, Shah, Ami J., Vander Lugt, Mark T., Thakar, Monica S., Parrott, Roberta E., Martinez, Caridad, Leiding, Jennifer W., Torgerson, Troy R., Pulsipher, Michael A., Notarangelo, Luigi D., Cowan, Morton J., Dvorak, Christopher C., Haddad, Elie, Puck, Jennifer M., and Kohn, Donald B.

Published
2022
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47. Beachrock as a Natural Coastal Resource in Antiquity: Evidence from Southern Israel.

Author

Bar, Amir, Haddad, Elie, Asscher, Yotam, Galili, Ehud, Bookman, Revital, and Zviely, Dov

Subjects
BEACHROCK, SEDIMENTARY rocks, COASTAL archaeology, ARCHITECTURAL details, COPPER Age
Abstract

Beachrock is a sedimentary rock that forms rapidly through the cementation of beach-associated clasts by calcium carbonate within the intertidal zone. On the southern coast of Israel, Holocene beachrock exposures typically appear as linear, shore-parallel platforms that dip seawards. In the archeological record, beachrock was exploited as a natural resource for various purposes, including the production of querns, millstones, basins, building stones, and other architectural elements. At Tel Yavne, a site continuously settled from the Chalcolithic period to the present day, excavations in the eastern and southern fringes revealed an extensive industrial compound dating to the Byzantine and early Islamic periods. This compound underscores the settlement's economic and industrial prominence during those eras. Numerous beachrock artifacts were uncovered, and this study examines their practical applications while characterizing their composition and microstructure. This research highlights the role of beachrock as a key resource, providing insights into inland–coastal economic interactions in antiquity and broadening our understanding of its use within the socio-economic landscape of the region. [ABSTRACT FROM AUTHOR]

Published
2025
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49. 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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