Search

Your search keyword '"Freeman, Alexandra F."' showing total 992 results
Start Over Author "Freeman, Alexandra F."
992 results on '"Freeman, Alexandra F."'

2. Immunogenetics associated with severe coccidioidomycosis

Author

Hsu, Amy P, Korzeniowska, Agnieszka, Aguilar, Cynthia C, Gu, Jingwen, Karlins, Eric, Oler, Andrew J, Chen, Gang, Reynoso, Glennys V, Davis, Joie, Chaput, Alexandria, Peng, Tao, Sun, Ling, Lack, Justin B, Bays, Derek J, Stewart, Ethan R, Waldman, Sarah E, Powell, Daniel A, Donovan, Fariba M, Desai, Jigar V, Pouladi, Nima, Priel, Debra A Long, Yamanaka, Daisuke, Rosenzweig, Sergio D, Niemela, Julie E, Stoddard, Jennifer, Freeman, Alexandra F, Zerbe, Christa S, Kuhns, Douglas B, Lussier, Yves A, Olivier, Kenneth N, Boucher, Richard C, Hickman, Heather D, Frelinger, Jeffrey, Fierer, Joshua, Shubitz, Lisa F, Leto, Thomas L, Thompson, George R, Galgiani, John N, Lionakis, Michail S, and Holland, Steven M

Subjects
Rare Diseases, Prevention, Vaccine Related, Biodefense, Clinical Research, 2.1 Biological and endogenous factors, Aetiology, Good Health and Well Being, Humans, Tumor Necrosis Factor-alpha, Hydrogen Peroxide, Coccidioidomycosis, Coccidioides, beta-Glucans, Fungal infections, Genetics, Infectious disease, Innate immunity, Population genetics
Abstract

Disseminated coccidioidomycosis (DCM) is caused by Coccidioides, pathogenic fungi endemic to the southwestern United States and Mexico. Illness occurs in approximately 30% of those infected, less than 1% of whom develop disseminated disease. To address why some individuals allow dissemination, we enrolled patients with DCM and performed whole-exome sequencing. In an exploratory set of 67 patients with DCM, 2 had haploinsufficient STAT3 mutations, and defects in β-glucan sensing and response were seen in 34 of 67 cases. Damaging CLEC7A and PLCG2 variants were associated with impaired production of β-glucan-stimulated TNF-α from PBMCs compared with healthy controls. Using ancestry-matched controls, damaging CLEC7A and PLCG2 variants were overrepresented in DCM, including CLEC7A Y238* and PLCG2 R268W. A validation cohort of 111 patients with DCM confirmed the PLCG2 R268W, CLEC7A I223S, and CLEC7A Y238* variants. Stimulation with a DECTIN-1 agonist induced DUOX1/DUOXA1-derived hydrogen peroxide [H2O2] in transfected cells. Heterozygous DUOX1 or DUOXA1 variants that impaired H2O2 production were overrepresented in discovery and validation cohorts. Patients with DCM have impaired β-glucan sensing or response affecting TNF-α and H2O2 production. Impaired Coccidioides recognition and decreased cellular response are associated with disseminated coccidioidomycosis.

Published
2022

4. Perturbations of the T-cell receptor repertoire in response to SARS-CoV-2 in immunocompetent and immunocompromised individuals

Author

Delmonte, Ottavia M., Oguz, Cihan, Dobbs, Kerry, Myint-Hpu, Katherine, Palterer, Boaz, Abers, Michael S., Draper, Deborah, Truong, Meng, Kaplan, Ian M., Gittelman, Rachel M., Zhang, Yu, Rosen, Lindsey B., Snow, Andrew L., Dalgard, Clifton L., Burbelo, Peter D., Imberti, Luisa, Sottini, Alessandra, Quiros-Roldan, Eugenia, Castelli, Francesco, Rossi, Camillo, Brugnoni, Duilio, Biondi, Andrea, Bettini, Laura Rachele, D’Angio, Mariella, Bonfanti, Paolo, Anderson, Megan V., Saracino, Annalisa, Chironna, Maria, Di Stefano, Mariantonietta, Fiore, Jose Ramon, Santantonio, Teresa, Castagnoli, Riccardo, Marseglia, Gian Luigi, Magliocco, Mary, Bosticardo, Marita, Pala, Francesca, Shaw, Elana, Matthews, Helen, Weber, Sarah E., Xirasagar, Sandhya, Barnett, Jason, Oler, Andrew J., Dimitrova, Dimana, Bergerson, Jenna R.E., McDermott, David H., Rao, V. Koneti, Murphy, Philip M., Holland, Steven M., Lisco, Andrea, Su, Helen C., Lionakis, Michail S., Cohen, Jeffrey I., Freeman, Alexandra F., Snyder, Thomas M., Lack, Justin, and Notarangelo, Luigi D.

Published
2024
Full Text
View/download PDF

5. The genomic landscape of rare disorders in the Middle East

Author

El Naofal, Maha, Ramaswamy, Sathishkumar, Alsarhan, Ali, Nugud, Ahmed, Sarfraz, Fatima, Janbaz, Hiba, Taylor, Alan, Jain, Ruchi, Halabi, Nour, Yaslam, Sawsan, Alfalasi, Roudha, Shenbagam, Shruti, Rabea, Fatma, Bitzan, Martin, Yavuz, Lemis, Wafadari, Deena, Abulhoul, Hamda, Shankar, Shiva, Al Maazmi, Munira, Rizk, Ruba, Alloub, Zeinab, Elbashir, Haitham, Babiker, Mohamed O. E., Chencheri, Nidheesh, AlBanna, Ammar, Sultan, Meshal, El Bitar, Mohamed, Kherani, Safeena, Thalange, Nandu, Alshryda, Sattar, Di Donato, Roberto, Tzivinikos, Christos, Majid, Ibrar, Freeman, Alexandra F., Gonzalez, Corina, Khan, Arif O., Hamdan, Hisham, Abuhammour, Walid, AlAwadhi, Mohamed, AlKhayat, Abdulla, Alsheikh-Ali, Alawi, and Abou Tayoun, Ahmad N.

Published
2023
Full Text
View/download PDF

9. Expanded microbiome niches of RAG-deficient patients

Author

Thomas, Jim, Mullikin, James, Young, Alice, Bouffard, Gerry, Barnabas, Betty, Brooks, Shelise, Buchter, Chloe, Crawford, Juyun, Han, Joel, Ho, Shi-ling, Legaspi, Richelle, Maduro, Quino, Marfani, Holly, Montemayor, Casandra, Schandler, Karen, Schmidt, Brian, Sison, Christina, Stantripop, Mal, Black, Sean, Dekhtyar, Mila, Masiello, Cathy, McDowell, Jenny, Park, Morgan, Thomas, Pam, Vemulapalli, Meg, Blaustein, Ryan A., Shen, Zeyang, Kashaf, Sara Saheb, Lee-Lin, ShihQueen, Conlan, Sean, Bosticardo, Marita, Delmonte, Ottavia M., Holmes, Cassandra J., Taylor, Monica E., Banania, Glenna, Nagao, Keisuke, Dimitrova, Dimana, Kanakry, Jennifer A., Su, Helen, Holland, Steven M., Bergerson, Jenna R.E., Freeman, Alexandra F., Notarangelo, Luigi D., Kong, Heidi H., and Segre, Julia A.

Published
2023
Full Text
View/download PDF

10. Coronavirus disease 2019 in patients with inborn errors of immunity: An international study

Author

Meyts, Isabelle, Bucciol, Giorgia, Quinti, Isabella, Neven, Bénédicte, Fischer, Alain, Seoane, Elena, Lopez-Granados, Eduardo, Gianelli, Carla, Robles-Marhuenda, Angel, Jeandel, Pierre-Yves, Paillard, Catherine, Sankaran, Vijay G, Demirdag, Yesim Yilmaz, Lougaris, Vassilios, Aiuti, Alessandro, Plebani, Alessandro, Milito, Cinzia, Dalm, Virgil ASH, Guevara-Hoyer, Kissy, Sánchez-Ramón, Silvia, Bezrodnik, Liliana, Barzaghi, Federica, Gonzalez-Granado, Luis Ignacio, Hayman, Grant R, Uzel, Gulbu, Mendonça, Leonardo Oliveira, Agostini, Carlo, Spadaro, Giuseppe, Badolato, Raffaele, Soresina, Annarosa, Vermeulen, François, Bosteels, Cedric, Lambrecht, Bart N, Keller, Michael, Mustillo, Peter J, Abraham, Roshini S, Gupta, Sudhir, Ozen, Ahmet, Karakoc-Aydiner, Elif, Baris, Safa, Freeman, Alexandra F, Yamazaki-Nakashimada, Marco, Scheffler-Mendoza, Selma, Espinosa-Padilla, Sara, Gennery, Andrew R, Jolles, Stephen, Espinosa, Yazmin, Poli, M Cecilia, Fieschi, Claire, Hauck, Fabian, Cunningham-Rundles, Charlotte, Mahlaoui, Nizar, Errors of Immunity, IUIS Committee of Inborn, Warnatz, Klaus, Sullivan, Kathleen E, and Tangye, Stuart G

Subjects
Vaccine Related, Clinical Research, Pneumonia & Influenza, Prevention, Pediatric, Emerging Infectious Diseases, Pneumonia, Infectious Diseases, Lung, Biodefense, Rare Diseases, Good Health and Well Being, Adolescent, Adult, Aged, COVID-19, Child, Child, Preschool, Female, Genetic Diseases, Inborn, Humans, Immunologic Deficiency Syndromes, Infant, Infant, Newborn, Male, Middle Aged, Retrospective Studies, Risk Factors, SARS-CoV-2, Severity of Illness Index, Young Adult, primary immunodeficiencies, inborn errors of immunity, hypogammaglobulinemia, immune dysregulation, IUIS Committee of Inborn Errors of Immunity, Immunology, Allergy
Abstract

BackgroundThere is uncertainty about the impact of severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) infection in individuals with rare inborn errors of immunity (IEI), a population at risk of developing severe coronavirus disease 2019. This is relevant not only for these patients but also for the general population, because studies of IEIs can unveil key requirements for host defense.ObjectiveWe sought to describe the presentation, manifestations, and outcome of SARS-CoV-2 infection in IEI to inform physicians and enhance understanding of host defense against SARS-CoV-2.MethodsAn invitation to participate in a retrospective study was distributed globally to scientific, medical, and patient societies involved in the care and advocacy for patients with IEI.ResultsWe gathered information on 94 patients with IEI with SARS-CoV-2 infection. Their median age was 25 to 34 years. Fifty-three patients (56%) suffered from primary antibody deficiency, 9 (9.6%) had immune dysregulation syndrome, 6 (6.4%) a phagocyte defect, 7 (7.4%) an autoinflammatory disorder, 14 (15%) a combined immunodeficiency, 3 (3%) an innate immune defect, and 2 (2%) bone marrow failure. Ten were asymptomatic, 25 were treated as outpatients, 28 required admission without intensive care or ventilation, 13 required noninvasive ventilation or oxygen administration, 18 were admitted to intensive care units, 12 required invasive ventilation, and 3 required extracorporeal membrane oxygenation. Nine patients (7 adults and 2 children) died.ConclusionsThis study demonstrates that (1) more than 30% of patients with IEI had mild coronavirus disease 2019 (COVID-19) and (2) risk factors predisposing to severe disease/mortality in the general population also seemed to affect patients with IEI, including more younger patients. Further studies will identify pathways that are associated with increased risk of severe disease and are nonredundant or redundant for protection against SARS-CoV-2.

Published
2021

14. Artificial thymic organoids represent a reliable tool to study T-cell differentiation in patients with severe T-cell lymphopenia

Author

Bosticardo, Marita, Pala, Francesca, Calzoni, Enrica, Delmonte, Ottavia M, Dobbs, Kerry, Gardner, Cameron L, Sacchetti, Nicolo’, Kawai, Tomoki, Garabedian, Elizabeth K, Draper, Debbie, Bergerson, Jenna RE, DeRavin, Suk See, Freeman, Alexandra F, Güngör, Tayfun, Hartog, Nicholas, Holland, Steven M, Kohn, Donald B, Malech, Harry L, Markert, Mary Louise, Weinacht, Katja G, Villa, Anna, Seet, Christopher S, Montel-Hagen, Amelie, Crooks, Gay M, and Notarangelo, Luigi D

Subjects
Biomedical and Clinical Sciences, Cardiovascular Medicine and Haematology, Stem Cell Research - Nonembryonic - Human, Pediatric, Clinical Research, Stem Cell Research, 2.1 Biological and endogenous factors, Aetiology, Antigens, CD34, Cell Differentiation, Hematopoietic Stem Cells, Humans, Lymphopenia, Organoids, Cardiovascular medicine and haematology
Abstract

The study of early T-cell development in humans is challenging because of limited availability of thymic samples and the limitations of in vitro T-cell differentiation assays. We used an artificial thymic organoid (ATO) platform generated by aggregating a DLL4-expressing stromal cell line (MS5-hDLL4) with CD34+ cells isolated from bone marrow or mobilized peripheral blood to study T-cell development from CD34+ cells of patients carrying hematopoietic intrinsic or thymic defects that cause T-cell lymphopenia. We found that AK2 deficiency is associated with decreased cell viability and an early block in T-cell development. We observed a similar defect in a patient carrying a null IL2RG mutation. In contrast, CD34+ cells from a patient carrying a missense IL2RG mutation reached full T-cell maturation, although cell numbers were significantly lower than in controls. CD34+ cells from patients carrying RAG mutations were able to differentiate to CD4+CD8+ cells, but not to CD3+TCRαβ+ cells. Finally, normal T-cell differentiation was observed in a patient with complete DiGeorge syndrome, consistent with the extra-hematopoietic nature of the defect. The ATO system may help determine whether T-cell deficiency reflects hematopoietic or thymic intrinsic abnormalities and define the exact stage at which T-cell differentiation is blocked.

Published
2020

15. Dominant-negative mutations in human IL6ST underlie hyper-IgE syndrome.

Author

Béziat, Vivien, Tavernier, Simon J, Chen, Yin-Huai, Ma, Cindy S, Materna, Marie, Laurence, Arian, Staal, Jens, Aschenbrenner, Dominik, Roels, Lisa, Worley, Lisa, Claes, Kathleen, Gartner, Lisa, Kohn, Lisa A, De Bruyne, Marieke, Schmitz-Abe, Klaus, Charbonnier, Louis-Marie, Keles, Sevgi, Nammour, Justine, Vladikine, Natasha, Maglorius Renkilaraj, Majistor Raj Luxman, Seeleuthner, Yoann, Migaud, Mélanie, Rosain, Jérémie, Jeljeli, Mohamed, Boisson, Bertrand, Van Braeckel, Eva, Rosenfeld, Jill A, Dai, Hongzheng, Burrage, Lindsay C, Murdock, David R, Lambrecht, Bart N, Avettand-Fenoel, Véronique, Vogel, Tiphanie P, Undiagnosed Diseases Network, Esther, Charles R, Haskologlu, Sule, Dogu, Figen, Ciznar, Peter, Boutboul, David, Ouachée-Chardin, Marie, Amourette, Jean, Lebras, Marie-Noëlle, Gauvain, Clément, Tcherakian, Colas, Ikinciogullari, Aydan, Beyaert, Rudi, Abel, Laurent, Milner, Joshua D, Grimbacher, Bodo, Couderc, Louis-Jean, Butte, Manish J, Freeman, Alexandra F, Catherinot, Émilie, Fieschi, Claire, Chatila, Talal A, Tangye, Stuart G, Uhlig, Holm H, Haerynck, Filomeen, Casanova, Jean-Laurent, and Puel, Anne

Subjects
Undiagnosed Diseases Network, Th2 Cells, Cells, Cultured, Cell Membrane, Fibroblasts, Humans, C-Reactive Protein, Cytokines, Pedigree, Genetics, Population, Up-Regulation, Kinetics, Genes, Dominant, Phenotype, Mutation, Alleles, Models, Biological, Adolescent, Middle Aged, Child, Female, Male, Cytokine Receptor gp130, Young Adult, HEK293 Cells, Job Syndrome, Loss of Function Mutation, Cells, Cultured, Genetics, Population, Genes, Dominant, Models, Biological, Medical and Health Sciences, Immunology
Abstract

Autosomal dominant hyper-IgE syndrome (AD-HIES) is typically caused by dominant-negative (DN) STAT3 mutations. Patients suffer from cold staphylococcal lesions and mucocutaneous candidiasis, severe allergy, and skeletal abnormalities. We report 12 patients from 8 unrelated kindreds with AD-HIES due to DN IL6ST mutations. We identified seven different truncating mutations, one of which was recurrent. The mutant alleles encode GP130 receptors bearing the transmembrane domain but lacking both the recycling motif and all four STAT3-recruiting tyrosine residues. Upon overexpression, the mutant proteins accumulate at the cell surface and are loss of function and DN for cellular responses to IL-6, IL-11, LIF, and OSM. Moreover, the patients' heterozygous leukocytes and fibroblasts respond poorly to IL-6 and IL-11. Consistently, patients with STAT3 and IL6ST mutations display infectious and allergic manifestations of IL-6R deficiency, and some of the skeletal abnormalities of IL-11R deficiency. DN STAT3 and IL6ST mutations thus appear to underlie clinical phenocopies through impairment of the IL-6 and IL-11 response pathways.

Published
2020

16. Ex vivo effect of JAK inhibition on JAK-STAT1 pathway hyperactivation in patients with dominant-negative STAT3 mutations

Author

Lobo, Pilar Blanco, Guisado-Hernández, Paloma, Villaoslada, Isabel, de Felipe, Beatriz, Carreras, Carmen, Rodriguez, Hector, Carazo-Gallego, Begoña, Méndez-Echevarria, Ana, Lucena, José Manuel, Aljaro, Pilar Ortiz, Castro, María José, Noguera-Uclés, José Francisco, Milner, Joshua D., McCann, Katelyn, Zimmerman, Ofer, Freeman, Alexandra F., Lionakis, Michail S., Holland, Steven M., Neth, Olaf, and Olbrich, Peter

Published
2022
Full Text
View/download PDF

20. Expansion of the Human Phenotype Ontology (HPO) knowledge base and resources

Author

Köhler, Sebastian, Carmody, Leigh, Vasilevsky, Nicole, Jacobsen, Julius OB, Danis, Daniel, Gourdine, Jean-Philippe, Gargano, Michael, Harris, Nomi L, Matentzoglu, Nicolas, McMurry, Julie A, Osumi-Sutherland, David, Cipriani, Valentina, Balhoff, James P, Conlin, Tom, Blau, Hannah, Baynam, Gareth, Palmer, Richard, Gratian, Dylan, Dawkins, Hugh, Segal, Michael, Jansen, Anna C, Muaz, Ahmed, Chang, Willie H, Bergerson, Jenna, Laulederkind, Stanley JF, Yüksel, Zafer, Beltran, Sergi, Freeman, Alexandra F, Sergouniotis, Panagiotis I, Durkin, Daniel, Storm, Andrea L, Hanauer, Marc, Brudno, Michael, Bello, Susan M, Sincan, Murat, Rageth, Kayli, Wheeler, Matthew T, Oegema, Renske, Lourghi, Halima, Della Rocca, Maria G, Thompson, Rachel, Castellanos, Francisco, Priest, James, Cunningham-Rundles, Charlotte, Hegde, Ayushi, Lovering, Ruth C, Hajek, Catherine, Olry, Annie, Notarangelo, Luigi, Similuk, Morgan, Zhang, Xingmin A, Gómez-Andrés, David, Lochmüller, Hanns, Dollfus, Hélène, Rosenzweig, Sergio, Marwaha, Shruti, Rath, Ana, Sullivan, Kathleen, Smith, Cynthia, Milner, Joshua D, Leroux, Dorothée, Boerkoel, Cornelius F, Klion, Amy, Carter, Melody C, Groza, Tudor, Smedley, Damian, Haendel, Melissa A, Mungall, Chris, and Robinson, Peter N

Subjects
Biological Sciences, Bioinformatics and Computational Biology, Genetics, Human Genome, Networking and Information Technology R&D (NITRD), Rare Diseases, Generic health relevance, Good Health and Well Being, Biological Ontologies, Computational Biology, Congenital Abnormalities, Databases, Genetic, Genetic Predisposition to Disease, Genetic Variation, Humans, Internet, Knowledge Bases, Phenotype, Whole Genome Sequencing, Environmental Sciences, Information and Computing Sciences, Developmental Biology, Biological sciences, Chemical sciences, Environmental sciences
Abstract

The Human Phenotype Ontology (HPO)-a standardized vocabulary of phenotypic abnormalities associated with 7000+ diseases-is used by thousands of researchers, clinicians, informaticians and electronic health record systems around the world. Its detailed descriptions of clinical abnormalities and computable disease definitions have made HPO the de facto standard for deep phenotyping in the field of rare disease. The HPO's interoperability with other ontologies has enabled it to be used to improve diagnostic accuracy by incorporating model organism data. It also plays a key role in the popular Exomiser tool, which identifies potential disease-causing variants from whole-exome or whole-genome sequencing data. Since the HPO was first introduced in 2008, its users have become both more numerous and more diverse. To meet these emerging needs, the project has added new content, language translations, mappings and computational tooling, as well as integrations with external community data. The HPO continues to collaborate with clinical adopters to improve specific areas of the ontology and extend standardized disease descriptions. The newly redesigned HPO website (www.human-phenotype-ontology.org) simplifies browsing terms and exploring clinical features, diseases, and human genes.

Published
2019

22. Congenital iRHOM2 deficiency causes ADAM17 dysfunction and environmentally directed immunodysregulatory disease

Author

Kubo, Satoshi, Fritz, Jill M., Raquer-McKay, Hayley M., Kataria, Rhea, Vujkovic-Cvijin, Ivan, Al-Shaibi, Ahmad, Yao, Yikun, Zheng, Lixin, Zou, Juan, Waldman, Alex D., Jing, Xinyi, Farley, Taylor K., Park, Ann Y., Oler, Andrew J., Charles, Adrian K., Makhlouf, Melanie, AbouMoussa, Eman H., Hasnah, Reem, Saraiva, Luis R., Ganesan, Sundar, Al-Subaiey, Abdulrahman Ahmed, Matthews, Helen, Flano, Emilio, Lee, Hyun Hee, Freeman, Alexandra F., Sefer, Asena Pınar, Sayar, Ersin, Çakır, Erkan, Karakoc-Aydiner, Elif, Baris, Safa, Belkaid, Yasmine, Ozen, Ahmet, Lo, Bernice, and Lenardo, Michael J.

Published
2022
Full Text
View/download PDF

23. Autocrine vitamin D signaling switches off pro-inflammatory programs of TH1 cells

Author

Chauss, Daniel, Freiwald, Tilo, McGregor, Reuben, Yan, Bingyu, Wang, Luopin, Nova-Lamperti, Estefania, Kumar, Dhaneshwar, Zhang, Zonghao, Teague, Heather, West, Erin E., Vannella, Kevin M., Ramos-Benitez, Marcos J., Bibby, Jack, Kelly, Audrey, Malik, Amna, Freeman, Alexandra F., Schwartz, Daniella M., Portilla, Didier, Chertow, Daniel S., John, Susan, Lavender, Paul, Kemper, Claudia, Lombardi, Giovanna, Mehta, Nehal N., Cooper, Nichola, Lionakis, Michail S., Laurence, Arian, Kazemian, Majid, and Afzali, Behdad

Published
2022
Full Text
View/download PDF

24. Autosomal Dominant Hyper-IgE Syndrome in the USIDNET Registry

Author

Gernez, Yael, Freeman, Alexandra F, Holland, Steven M, Garabedian, Elizabeth, Patel, Niraj C, Puck, Jennifer M, Sullivan, Kathleen E, Akhter, Javeed, Secord, Elizabeth, Chen, Karin, Buckley, Rebecca, Haddad, Elie, Ochs, Hans D, Fuleihan, Ramsay, Routes, John, Muskat, Mica, Lugar, Patricia, Mancini, Julien, and Cunningham-Rundles, Charlotte

Subjects
Lung, Clinical Research, Rare Diseases, Adolescent, Adult, Aged, Aspergillus fumigatus, Child, Child, Preschool, Drug Hypersensitivity, Eosinophilia, Female, Follow-Up Studies, Food Hypersensitivity, Humans, Immunoglobulin E, Job Syndrome, Male, Medical History Taking, Middle Aged, Pseudomonas aeruginosa, Quebec, Registries, Respiratory Tract Infections, Skin, Staphylococcus aureus, Tooth, Young Adult, Buckley-Job syndrome, Chronic mucocutaneous candidiasis, Immunodeficiency, Pneumatocele, Quality of life
Abstract

BackgroundAutosomal dominant hyper-IgE syndrome (AD-HIES) is a rare condition.ObjectiveData from the USIDNET Registry provide a resource to examine the characteristics of patients with rare immune deficiency diseases.MethodsA query was submitted to the USIDNET requesting deidentified data for patients with physician-diagnosed AD-HIES through July 2016.ResultsData on 85 patients diagnosed with AD-HIES (50 males; 35 females) born between 1950 and 2013, collected by 14 physicians from 25 states and Quebec, were entered into the USIDNET Registry by July 2016. Cumulative follow-up was 2157 years. Of these patients, 45.9% had a family history of HIES. The complications reported included skin abscesses (74.4%), eczema (57.7%), retained primary teeth (41.4%), fractures (39%), scoliosis (34.1%), and cancer (7%). Reported allergic diseases included food (37.8%), environmental (18%), and drugs (42.7%). The mean serum IgE level was 8383.7 kU/mL and was inversely correlated to the patient's age. A total of 49.4% had eosinophilia; 56% were known to be on trimethoprim-sulfamethoxazole, 26.6% on antifungal coverage, and 30.6% on immunoglobulin replacement therapy. Pneumonias were more commonly attributed to Staphylococcus aureus (55.3%) or Aspergillus fumigatus (22.4%); 19.5% had a history of lung abscess; these were most often associated with Pseudomonas aeruginosa (P Fisher's exact test = .029) or A. fumigatus (P Fisher's exact test = .016). Lung abscesses were significantly associated with drug reactions (P χ2 = .01; odds ratio: 4.03 [1.2-12.97]), depression (P Fisher's exact test = .036), and lower Karnofsky index scores (P Mann-Whitney = .007).DiscussionData from the USIDNET Registry summarize the currently reported clinical characteristics of a large cohort of subjects with AD-HIES.

Published
2018

25. Clonally expanded γδ T cells protect against Staphylococcus aureus skin reinfection

Author

Dillen, Carly A, Pinsker, Bret L, Marusina, Alina I, Merleev, Alexander A, Farber, Orly N, Liu, Haiyun, Archer, Nathan K, Lee, Da B, Wang, Yu, Ortines, Roger V, Lee, Steven K, Marchitto, Mark C, Cai, Shuting S, Ashbaugh, Alyssa G, May, Larissa S, Holland, Steven M, Freeman, Alexandra F, Miller, Loren G, Yeaman, Michael R, Simon, Scott I, Milner, Joshua D, Maverakis, Emanual, and Miller, Lloyd S

Subjects
Biochemistry and Cell Biology, Biomedical and Clinical Sciences, Biological Sciences, Microbiology, Clinical Sciences, Immunology, Infectious Diseases, Emerging Infectious Diseases, Inflammatory and immune system, Infection, Animals, Female, Gene Rearrangement, Interferon-gamma, Interleukin-17, Interleukin-1beta, Interleukins, Intraepithelial Lymphocytes, Male, Mice, Mice, Inbred C57BL, Neutrophil Infiltration, Neutrophils, Receptors, Antigen, T-Cell, gamma-delta, Sequence Analysis, RNA, Signal Transduction, Skin Diseases, Bacterial, Staphylococcal Infections, Staphylococcus aureus, Tumor Necrosis Factor-alpha, Interleukin-22, Adaptive immunity, Bacterial infections, Infectious disease, Skin, Medical and Health Sciences, Biological sciences, Biomedical and clinical sciences, Health sciences
Abstract

The mechanisms that mediate durable protection against Staphylococcus aureus skin reinfections are unclear, as recurrences are common despite high antibody titers and memory T cells. Here, we developed a mouse model of S. aureus skin reinfection to investigate protective memory responses. In contrast with WT mice, IL-1β-deficient mice exhibited poor neutrophil recruitment and bacterial clearance during primary infection that was rescued during secondary S. aureus challenge. The γδ T cells from skin-draining LNs utilized compensatory T cell-intrinsic TLR2/MyD88 signaling to mediate rescue by trafficking and producing TNF and IFN-γ, which restored neutrophil recruitment and promoted bacterial clearance. RNA-sequencing (RNA-seq) of the LNs revealed a clonotypic S. aureus-induced γδ T cell expansion with a complementarity-determining region 3 (CDR3) aa sequence identical to that of invariant Vγ5+ dendritic epidermal T cells. However, this T cell receptor γ (TRG) aa sequence of the dominant CDR3 sequence was generated from multiple gene rearrangements of TRGV5 and TRGV6, indicating clonotypic expansion. TNF- and IFN-γ-producing γδ T cells were also expanded in peripheral blood of IRAK4-deficient humans no longer predisposed to S. aureus skin infections. Thus, clonally expanded γδ T cells represent a mechanism for long-lasting immunity against recurrent S. aureus skin infections.

Published
2018

26. Anti–Interleukin-23 Autoantibodies in Adult-Onset Immunodeficiency

Author

Cheng, Aristine, primary, Kashyap, Anuj, additional, Salvator, Helene, additional, Rosen, Lindsey B., additional, Colby, Devon, additional, Ardeshir-Larijani, Fatemeh, additional, Loehrer, Patrick J., additional, Ding, Li, additional, Lugo Reyes, Saul O., additional, Riminton, Sean, additional, Ballman, Madison, additional, Rocco, Joseph M., additional, Marciano, Beatriz E., additional, Freeman, Alexandra F., additional, Browne, Sarah K., additional, Hsu, Amy P., additional, Zelazny, Adrian, additional, Rajan, Arun, additional, Sereti, Irini, additional, Zerbe, Christa S., additional, Lionakis, Michail S., additional, and Holland, Steven M., additional

Published
2024
Full Text
View/download PDF

28. Antibody responses to the SARS-CoV-2 vaccine in individuals with various inborn errors of immunity

Author

Delmonte, Ottavia M., Bergerson, Jenna R.E., Burbelo, Peter D., Durkee-Shock, Jessica R., Dobbs, Kerry, Bosticardo, Marita, Keller, Michael D., McDermott, David H., Rao, V. Koneti, Dimitrova, Dimana, Quiros-Roldan, Eugenia, Imberti, Luisa, Ferrè, Elise M.N., Schmitt, Monica, Lafeer, Christine, Pfister, Justina, Shaw, Dawn, Draper, Deborah, Truong, Meng, Ulrick, Jean, DiMaggio, Tom, Urban, Amanda, Holland, Steven M., Lionakis, Michail S., Cohen, Jeffrey I., Ricotta, Emily E., Notarangelo, Luigi D., and Freeman, Alexandra F.

Published
2021
Full Text
View/download PDF

29. Genetic Risk Factors for Early-Onset Merkel Cell Carcinoma

Author

Mohsin, Noreen, primary, Hunt, Devin, additional, Yan, Jia, additional, Jabbour, Austin J., additional, Nghiem, Paul, additional, Choi, Jaehyuk, additional, Zhang, Yue, additional, Freeman, Alexandra F., additional, Bergerson, Jenna R. E., additional, Dell’Orso, Stefania, additional, Lachance, Kristina, additional, Kulikauskas, Rima, additional, Collado, Loren, additional, Cao, Wenjia, additional, Lack, Justin, additional, Similuk, Morgan, additional, Seifert, Bryce A., additional, Ghosh, Rajarshi, additional, Walkiewicz, Magdalena A., additional, and Brownell, Isaac, additional

Published
2024
Full Text
View/download PDF

30. Autosomal Dominant Hyper IgE Syndrome

Author

Bergerson, Jenna R. E., Freeman, Alexandra F., Walter, Jolan, Section editor, Orange, Jordan Scott, editor, Chinen, Javier, editor, MacKay, Ian R., Series Editor, and Rose, Noel R., Series Editor

Published
2020
Full Text
View/download PDF

31. Quantitative analysis of the natural history of prolidase deficiency: description of 17 families and systematic review of published cases

Author

Rossignol, Francis, Duarte Moreno, Marvid S., Benoist, Jean-François, Boehm, Manfred, Bourrat, Emmanuelle, Cano, Aline, Chabrol, Brigitte, Cosson, Claudine, Díaz, José Luís Dapena, D’Harlingue, Arthur, Dimmock, David, Freeman, Alexandra F., García, María Tallón, Garganta, Cheryl, Goerge, Tobias, Halbach, Sara S., de Laffolie, Jan, Lam, Christina T., Martin, Ludovic, Martins, Esmeralda, Meinhardt, Andrea, Melki, Isabelle, Ombrello, Amanda K., Pérez, Noémie, Quelhas, Dulce, Scott, Anna, Slavotinek, Anne M., Soares, Ana Rita, Stein, Sarah L., Süßmuth, Kira, Thies, Jenny, Ferreira, Carlos R., and Schiff, Manuel

Published
2021
Full Text
View/download PDF

33. DOCK 8 Deficiency, EBV+ Lymphomatoid Granulomatosis, and Intrafamilial Variation in Presentation

Author

Dimitriades, Victoria R, Devlin, Vincent, Pittaluga, Stefania, Su, Helen C, Holland, Steven M, Wilson, Wyndham, Dunleavy, Kieron, Shah, Nirali N, and Freeman, Alexandra F

Subjects
Biomedical and Clinical Sciences, Clinical Sciences, Hematology, Prevention, Aetiology, 2.1 Biological and endogenous factors, DOCK8, lymphomatoid granulomatosis, lymphomatous granulomatosis, eBV lymphoproliferation, bone marrow transplantation, Paediatrics and Reproductive Medicine, Other Medical and Health Sciences, Paediatrics
Abstract

Dedicator of cytokinesis 8 (DOCK8) deficiency is an autosomal recessive, combined immunodeficiency within the spectrum of hyper-IgE syndromes. Epstein-Barr virus-positive lymphomatoid granulomatosis (LYG) (EBV + LYG) is a rare diagnosis and a previously unreported presentation of DOCK8 deficiency. A 10-year-old girl was initially evaluated for mild eczema and recurrent sinopulmonary infections. She had normal immunoglobulins with elevated IgE, poor polysaccharide response with low switched memory B cells, low CD4 count, and normal mitogen and antigen responses. Despite clinical improvement following immunoglobulin replacement, a prolonged cough prompted a CT scan, which showed nodules. Biopsy identified a Grade 2 EBV + LYG. Due to an inadequate response with chemotherapy, further workup for primary immunodeficiency was performed. With her symptoms of eczema and IgE elevation, along with her brother's history of recurrent sinopulmonary infections and warts, targeted sequencing of DOCK8 was performed revealing compound heterozygous mutations for the two siblings. Both patients were successfully transplanted with resolution of the LYG and warts, respectively. This is the first reported case of LYG in DOCK8 deficiency. The EBV-driven lymphoproliferative disease along with the infection history in the brother led to the diagnosis of DOCK8 deficiency and curative hematopoietic stem cell transplants.

Published
2017

36. Prospective Study of a Novel, Radiation-Free, Reduced-Intensity Bone Marrow Transplantation Platform for Primary Immunodeficiency Diseases

Author

Dimitrova, Dimana, Gea-Banacloche, Juan, Steinberg, Seth M., Sadler, Jennifer L., Hicks, Stephanie N., Carroll, Ellen, Wilder, Jennifer S., Parta, Mark, Skeffington, Lauren, Hughes, Thomas E., Blau, Jenny E., Broadney, Miranda M., Rose, Jeremy J., Hsu, Amy P., Fletcher, Rochelle, Nunes, Natalia S., Yan, Xiao-Yi, Telford, William G., Kapoor, Veena, Cohen, Jeffrey I., Freeman, Alexandra F., Garabedian, Elizabeth, Holland, Steven M., Lisco, Andrea, Malech, Harry L., Notarangelo, Luigi D., Sereti, Irini, Shah, Nirali N., Uzel, Gulbu, Zerbe, Christa S., Fowler, Daniel H., Gress, Ronald E., Kanakry, Christopher G., and Kanakry, Jennifer A.

Published
2020
Full Text
View/download PDF

37. Prevalence and pathogenicity of autoantibodies in patients with idiopathic CD4 lymphopenia

Author

Perez-Diez, Ainhoa, Wong, Chun-Shu, Liu, Xiangdong, Mystakelis, Harry, Song, Jian, Lu, Yong, Sheikh, Virginia, Bourgeois, Jeffrey S., Lisco, Andrea, Laidlaw, Elizabeth, Cudrici, Cornelia, Zhu, Chengsong, Li, Quan-Zhen, Freeman, Alexandra F., Williamson, Peter R., Anderson, Megan, Roby, Gregg, Tsang, John S., Siegel, Richard, and Sereti, Irini

Subjects
Thermo Fisher Scientific Inc., Skin diseases -- Development and progression, B cells -- Health aspects, Lymphocytopenia -- Development and progression, Autoimmunity -- Health aspects, Autoantibodies -- Health aspects, Infection -- Development and progression, Scientific equipment industry -- Health aspects, T cells -- Health aspects, Health care industry
Abstract

BACKGROUND. Idiopathic CD4 lymphopenia (ICL) is defined by persistently low [CD4.sup.+] cell counts ( METHODS. We hybridized 34 and 51 ICL patients' sera to a 9,000-human-proteome array and to a 128-known-autoantigen array, respectively. Using a flow-based method, we characterized the presence of anti-lymphocyte Abs in the whole cohort of 72 patients, as well as the Ab functional capability of inducing Ab-dependent cell-mediated cytotoxicity (ADCC), complement deposition, and complement-dependent cytotoxicity (CDC). We tested ex vivo the activation of the classical complement pathway on ICL [CD4.sup.+] T cells. RESULTS. All ICL patients had a multitude of autoantibodies mostly directed against private (not shared) targets and unrelated quantitatively or qualitatively to the patients' autoimmune disease status. The targets included lymphocyte intracellular and membrane antigens, confirmed by the detection by flow of IgM and IgG (mostly [IgG.sub.1] and [IgG.sub.4]) anti-[CD4.sup.+] cell Abs in 50% of the patients, with half of these cases triggering lysis of [CD4.sup.+] T cells. We also detected in vivo classical complement activation on [CD4.sup.+] T cells in 14% of the whole cohort. CONCLUSION. Our data demonstrate that a high prevalence of autoantibodies in ICL, some of which are specific for [CD4.sup.+] T cells, may contribute to pathogenesis, and may represent a potentially novel therapeutic target. TRIAL REGISTRATION. ClinicalTrials.gov NCT00867269. FUNDING. NIAID and National Institute of Arthritis and Musculoskeletal and Skin Diseases of the NIH., Introduction Idiopathic CD4 lymphopenia (ICL) was initially described in the late 1980s when some patients presented with opportunistic infections and CD4 lymphopenia consistent with AIDS, but with negative HIV testing. [...]

Published
2020
Full Text
View/download PDF

38. Perturbations of the T-cell receptor repertoire in response to SARS-CoV-2 in immunocompetent and immunocompromised individuals.

Author

Delmonte, Ottavia M., primary, Oguz, Cihan, additional, Dobbs, Kerry, additional, Myint-Hpu, Katherine, additional, Palterer, Boaz, additional, Abers, Michael S., additional, Draper, Deborah, additional, Truong, Meng, additional, Kaplan, Ian M., additional, Gittelman, Rachel M., additional, Zhang, Yu, additional, Rosen, Lindsey B., additional, Snow, Andrew L., additional, Dalgard, Clifton L., additional, Burbelo, Peter D., additional, Imberti, Luisa, additional, Sottini, Alessandra, additional, Quiros-Roldan, Eugenia, additional, Castelli, Francesco, additional, Rossi, Camillo, additional, Brugnoni, Duilio, additional, Biondi, Andrea, additional, Bettini, Laura Rachele, additional, D’Angio’, Mariella, additional, Bonfanti, Paolo, additional, Anderson, Megan V., additional, Saracino, Annalisa, additional, Chironna, Maria, additional, Di Stefano, Mariantonietta, additional, Fiore, Jose Ramon, additional, Santantonio, Teresa, additional, Castagnoli, Riccardo, additional, Marseglia, Gian Luigi, additional, Magliocco, Mary, additional, Bosticardo, Marita, additional, Pala, Francesca, additional, Shaw, Elana, additional, Matthews, Helen, additional, Weber, Sarah E., additional, Xirasagar, Sandhya, additional, Barnett, Jason, additional, Oler, Andrew J., additional, Dimitrova, Dimana, additional, Bergerson, Jenna R.E., additional, McDermott, David H., additional, Rao, V. Koneti, additional, Murphy, Philip M., additional, Holland, Steven M., additional, Lisco, Andrea, additional, Su, Helen C., additional, Lionakis, Michail S., additional, Cohen, Jeffrey I., additional, Freeman, Alexandra F., additional, Snyder, Thomas M., additional, Lack, Justin, additional, and Notarangelo, Luigi D., additional

Published
2023
Full Text
View/download PDF

39. Characterization of the antispike IgG immune response to COVID-19 vaccines in people with a wide variety of immunodeficiencies

Author

Zendt, Mackenzie, primary, Bustos Carrillo, Fausto A., additional, Kelly, Sophie, additional, Saturday, Taylor, additional, DeGrange, Maureen, additional, Ginigeme, Anita, additional, Wu, Lurline, additional, Callier, Viviane, additional, Ortega-Villa, Ana, additional, Faust, Mondreakest, additional, Chang-Rabley, Emma, additional, Bugal, Kara, additional, Kenney, Heather, additional, Khil, Pavel, additional, Youn, Jung-Ho, additional, Osei, Gloria, additional, Regmi, Pravesh, additional, Anderson, Victoria, additional, Bosticardo, Marita, additional, Daub, Janine, additional, DiMaggio, Thomas, additional, Kreuzburg, Samantha, additional, Pala, Francesca, additional, Pfister, Justina, additional, Treat, Jennifer, additional, Ulrick, Jean, additional, Karkanitsa, Maria, additional, Kalish, Heather, additional, Kuhns, Douglas B., additional, Priel, Debra L., additional, Fink, Danielle L., additional, Tsang, John S., additional, Sparks, Rachel, additional, Uzel, Gulbu, additional, Waldman, Meryl A., additional, Zerbe, Christa S., additional, Delmonte, Ottavia M., additional, Bergerson, Jenna R. E., additional, Das, Sanchita, additional, Freeman, Alexandra F., additional, Lionakis, Michail S., additional, Sadtler, Kaitlyn, additional, van Doremalen, Neeltje, additional, Munster, Vincent, additional, Notarangelo, Luigi D., additional, Holland, Steven M., additional, and Ricotta, Emily E., additional

Published
2023
Full Text
View/download PDF

42. Impaired angiogenesis and extracellular matrix metabolism in autosomal-dominant hyper-IgE syndrome

Author

Dmitrieva, Natalia I., Walts, Avram D., Nguyen, Dai Phuong, Grubb, Alex, Zhang, Xue, Wang, Xujing, Ping, Xianfeng, Jin, Hui, Yu, Zhen, Yu, Zu-Xi, Yang, Dan, Schwartzbeck, Robin, Dalgard, Clifton L., Kozel, Beth A., Levin, Mark D., Knutsen, Russell H., Liu, Delong, Milner, Joshua D., Lopez, Diego B., O'Connell, Michael P., Lee, Chyi-Chia Richard, Myles, Ian A., Hsu, Amy P., Freeman, Alexandra F., Holland, Steven M., Chen, Guibin, and Boehm, Manfred

Subjects
Genes -- Physiological aspects -- Analysis -- Genetic aspects, Wound care -- Analysis -- Physiological aspects, Skin -- Analysis -- Genetic aspects -- Physiological aspects, Advertising executives -- Analysis -- Physiological aspects, Gene expression -- Analysis -- Genetic aspects -- Physiological aspects, Immunoglobulin E -- Analysis -- Physiological aspects, Health care industry
Abstract

There are more than 7000 described rare diseases, most lacking specific treatment. Autosomal-dominant hyper-IgE syndrome (AD-HIES, also known as Job's syndrome) is caused by mutations in STAT3. These patients present with immunodeficiency accompanied by severe nonimmunological features, including skeletal, connective tissue, and vascular abnormalities, poor postinfection lung healing, and subsequent pulmonary failure. No specific therapies are available for these abnormalities. Here, we investigated underlying mechanisms in order to identify therapeutic targets. Histological analysis of skin wounds demonstrated delayed granulation tissue formation and vascularization during skin-wound healing in AD-HIES patients. Global gene expression analysis in AD-HIES patient skin fibroblasts identified deficiencies in a STAT3-controlled transcriptional network regulating extracellular matrix (ECM) remodeling and angiogenesis, with hypoxia-inducible factor 1[alpha] (HIF-1[alpha]) being a major contributor. Consistent with this, histological analysis of skin wounds and coronary arteries from AD-HIES patients showed decreased HIF-1[alpha] expression and revealed abnormal organization of the ECM and altered formation of the coronary vasa vasorum. Disease modeling using cell culture and mouse models of angiogenesis and wound healing confirmed these predicted deficiencies and demonstrated therapeutic benefit of HIF-1[alpha]-stabilizing drugs. The study provides mechanistic insights into AD-HIES pathophysiology and suggests potential treatment options for this rare disease., Introduction There are more than 7000 identified rare diseases that affect fewer than 1 person per 2000 and in most cases are caused by the altered function of a single [...]

Published
2020
Full Text
View/download PDF

44. Targeted therapy guided by single-cell transcriptomic analysis in drug-induced hypersensitivity syndrome: a case report

Author

Kim, Doyoung, Kobayashi, Tetsuro, Voisin, Benjamin, Jo, Jay-Hyun, Sakamoto, Keiko, Jin, Seon-Pil, Kelly, Michael, Pasieka, Helena B., Naff, Jessica L., Meyerle, Jon H., Ikpeama, Ijeoma D., Fahle, Gary A., Davis, Fred P., Rosenzweig, Sergio D., Alejo, Julie C., Pittaluga, Stefania, Kong, Heidi H., Freeman, Alexandra F., and Nagao, Keisuke

Published
2020
Full Text
View/download PDF

45. IL2RG Reversion Event in a Common Lymphoid Progenitor Leads to Delayed Diagnosis and Milder Phenotype

Author

Hsu, Amy P, Pittaluga, Stefania, Martinez, Bianca, Rump, Amy P, Raffeld, Mark, Uzel, Gulbu, Puck, Jennifer M, Freeman, Alexandra F, and Holland, Steven M

Subjects
Biomedical and Clinical Sciences, Immunology, Genetics, Pediatric, 2.1 Biological and endogenous factors, Aetiology, Inflammatory and immune system, Adult, Antigens, CD19, B-Lymphocytes, Bronchiectasis, CD4-Positive T-Lymphocytes, CD8-Positive T-Lymphocytes, Delayed Diagnosis, Humans, Infant, Newborn, Infections, Interleukin Receptor Common gamma Subunit, Lymphoid Progenitor Cells, Male, Mutation, Pedigree, Phenotype, Severe Combined Immunodeficiency, Signal Transduction, Skin, Young Adult, X-SCID, IL2RG, Reversion, Common gamma chain
Abstract

Severe combined immunodeficiency (SCID) is most frequently caused by mutations in the cytokine receptor common gamma chain, CD132, encoded by the X-linked gene, IL2RG. Most patients present in the first year of life with failure to thrive, severe, opportunistic infections and absence of CD3+ T cells. We present a patient with pediatric illness and a diagnosis of combined variable immune deficiency (CVID) who was diagnosed at age 23 with an inherited IL2RG mutation causing loss of signal transduction through CD132. His peripheral blood included CD3/CD4 and CD3/CD8 positive cells as well as low levels of CD19+ B cells containing a reversion to the wildtype IL2RG allele. The reversion, which was not present at birth, may account for his mild phenotype and late diagnosis.

Published
2015

46. Hypomorphic caspase activation and recruitment domain 11 (CARD11) mutations associated with diverse immunologic phenotypes with or without atopic disease

Author

Dorjbal, Batsukh, Stinson, Jeffrey R., Ma, Chi A., Weinreich, Michael A., Miraghazadeh, Bahar, Hartberger, Julia M., Frey-Jakobs, Stefanie, Weidinger, Stephan, Moebus, Lena, Franke, Andre, Schäffer, Alejandro A., Bulashevska, Alla, Fuchs, Sebastian, Ehl, Stephan, Limaye, Sandhya, Arkwright, Peter D., Briggs, Tracy A., Langley, Claire, Bethune, Claire, Whyte, Andrew F., Alachkar, Hana, Nejentsev, Sergey, DiMaggio, Thomas, Nelson, Celeste G., Stone, Kelly D., Nason, Martha, Brittain, Erica H., Oler, Andrew J., Veltri, Daniel P., Leahy, T. Ronan, Conlon, Niall, Poli, Maria C., Borzutzky, Arturo, Cohen, Jeffrey I., Davis, Joie, Lambert, Michele P., Romberg, Neil, Sullivan, Kathleen E., Paris, Kenneth, Freeman, Alexandra F., Lucas, Laura, Chandrakasan, Shanmuganathan, Savic, Sinisa, Hambleton, Sophie, Patel, Smita Y., Jordan, Michael B., Theos, Amy, Lebensburger, Jeffrey, Atkinson, T. Prescott, Torgerson, Troy R., Chinn, Ivan K., Milner, Joshua D., Grimbacher, Bodo, Cook, Matthew C., and Snow, Andrew L.

Published
2019
Full Text
View/download PDF

47. Hematopoietic Stem Cell Transplantation as Treatment for Patients with DOCK8 Deficiency

Author

Aydin, Susanne E., Freeman, Alexandra F., Al-Herz, Waleed, Al-Mousa, Hamoud A., Arnaout, Rand K., Aydin, Roland C., Barlogis, Vincent, Belohradsky, Bernd H., Bonfim, Carmem, Bredius, Robbert G., Chu, Julia I., Ciocarlie, Oana C., Doğu, Figen, Gaspar, Hubert B., Geha, Raif S., Gennery, Andrew R., Hauck, Fabian, Hawwari, Abbas, Hickstein, Dennis D., Hoenig, Manfred, Ikinciogullari, Aydan, Klein, Christoph, Kumar, Ashish, Ifversen, Marianne R.S., Matthes, Susanne, Metin, Ayse, Neven, Benedicte, Pai, Sung-Yun, Parikh, Suhag H., Picard, Capucine, Renner, Ellen D., Sanal, Özden, Schulz, Ansgar S., Schuster, Friedhelm, Shah, Nirali N., Shereck, Evan B., Slatter, Mary A., Su, Helen C., van Montfrans, Joris, Woessmann, Wilhelm, Ziegler, John B., and Albert, Michael H.

Published
2019
Full Text
View/download PDF

50. Loss-of-function mutations in caspase recruitment domain-containing protein 14 (CARD14) are associated with a severe variant of atopic dermatitis

Author

Peled, Alon, Sarig, Ofer, Sun, Guangping, Samuelov, Liat, Ma, Chi A., Zhang, Yuan, Dimaggio, Tom, Nelson, Celeste G., Stone, Kelly D., Freeman, Alexandra F., Malki, Liron, Vidal, Lucia Seminario, Chamarthy, Latha M., Briskin, Valeria, Mohamad, Janan, Pavlovsky, Mor, Walter, Jolan E., Milner, Joshua D., and Sprecher, Eli

Published
2019
Full Text
View/download PDF

Catalog

Books, media, physical & digital resources
See catalog results