المؤلفون: Hashim Javad, Brittney Cangemi, Michel J. Massaad, Shafiq Ur Rehman Naseem, Raif S. Geha, Wayne Bainter, Salem Al-Tamemi, Janet Chou, Yousef R. Badran

المصدر: Clinical Immunology. :100-102

مصطلحات موضوعية: 0301 basic medicine, Severe combined immunodeficiency, ORAI1, Protein subunit, Endoplasmic reticulum, Calcium channel, Immunology, chemistry.chemical_element, STIM1, Biology, Calcium, medicine.disease, Cell biology, 03 medical and health sciences, 030104 developmental biology, 0302 clinical medicine, chemistry, medicine, Cancer research, Immunology and Allergy, 030217 neurology & neurosurgery, Immunodeficiency

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::21129213d3eccb00b306b9ef64c800ed
https://doi.org/10.1016/j.clim.2016.03.012

المؤلفون: Raif S. Geha, Talal A. Chatila, Ali Sobh, Majid Dasouki, John P. Manis, Ahmet Ozen, Hans D. Ochs, Waleed Al-Herz, Maria Kanariou, Michel J. Massaad, Brittney Cangemi, Sevgi Keles, Alexandra F. Freeman, Gérard Lefranc, Ayse Metin, Sachin N. Baxi, Nashat Al-Sukaiti

المساهمون: Boston Children's Hospital, Allergy and Clinical Immunology Unit, Department of Pediatrics, Al-Sabah Hospital, Institut de génétique humaine (IGH), Université de Montpellier (UM)-Centre National de la Recherche Scientifique (CNRS), National Institutes of Health [Bethesda] (NIH), Division of Endocrinology, Children's Hospital Boston, Harvard Medical School, Harvard Medical School [Boston] (HMS), Selcuk University, the Pediatric Immunology Unit, SB Ankara Diskapi Children’s Hospital, University of Kansas Medical Center [Lawrence], Department of Pediatrics, Mansoura University Children's Hospital, Faculty of Medicine, Department of Immunology-Histocompatibility, 'Aghia Sophia' Children's Hospital, Department of Pediatrics, Allergy and Clinical Immunology Unit, Royal Hospital, Faculty of Medicine, Division of Pediatric Allergy and Immunology, Marmara University, University of Washington [Seattle]

المصدر: Clinical Immunology
Clinical Immunology, Elsevier, 2017, 183, pp.263-265. ⟨10.1016/j.clim.2017.08.020⟩

مصطلحات موضوعية: 0301 basic medicine, STAT3 Transcription Factor, [SDV]Life Sciences [q-bio], Immunology, Immunoglobulin E, IgE synthesis, STAT3, 03 medical and health sciences, CpG, Immunology and Allergy, Guanine Nucleotide Exchange Factors, Humans, CD40 Antigens, ComputingMilieux_MISCELLANEOUS, Cells, Cultured, [SDV.GEN]Life Sciences [q-bio]/Genetics, B-Lymphocytes, biology, CD23, TLR9, Molecular biology, DOCK8, Immunoglobulin Class Switching, 3. Good health, Hyper IgE Syndrome, 030104 developmental biology, Immunoglobulin class switching, CpG site, Oligodeoxyribonucleotides, Toll-Like Receptor 9, biology.protein, Interleukin-4, Dock8, [INFO.INFO-BI]Computer Science [cs]/Bioinformatics [q-bio.QM], Ligation, Job Syndrome

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::79778b2efa07af708990216f299a1b9d
https://pubmed.ncbi.nlm.nih.gov/28882618

المؤلفون: Jennifer Kane, Janet Chou, Michel J. Massaad, Waleed Al-Herz, Raif S. Geha, Luigi D. Notarangelo, Brittney Cangemi, Elena Crestani, Ali Sobh, Sung-Yun Pai

المصدر: The Journal of allergy and clinical immunology. 137(1)

مصطلحات موضوعية: 0301 basic medicine, Male, Fas Ligand Protein, Immunology, CHO Cells, Fas ligand, 03 medical and health sciences, Cricetulus, medicine, Immunology and Allergy, Animals, Humans, biology, Chinese hamster ovary cell, Autoimmune Lymphoproliferative Syndrome, Homozygote, Infant, biology.organism_classification, medicine.disease, 030104 developmental biology, Autoimmune lymphoproliferative syndrome, Mutation (genetic algorithm), Mutation, Cancer research, Leukocytes, Mononuclear, Female

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c8d4302b6d17deded3dc43f4f649f9b7
https://pubmed.ncbi.nlm.nih.gov/26456038

المؤلفون: Rima Hanna-Wakim, Janet Chou, Mariam Rajab, Michel J. Massaad, Raif S. Geha, Wayne Bainter, Brittney Cangemi, Ghassan Dbaibo, Yousef R. Badran

المصدر: Clinical Immunology. 171:65-66

مصطلحات موضوعية: 030203 arthritis & rheumatology, 0301 basic medicine, business.industry, Immunology, Familial Mediterranean fever, Consanguinity, medicine.disease, Pyrin domain, LRBA, 03 medical and health sciences, 030104 developmental biology, 0302 clinical medicine, medicine, Primary immunodeficiency, Immunology and Allergy, Differential diagnosis, Colitis, business, Exome sequencing

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::d15c36c5fa6fba34a9f09f5e5c63e05d
https://doi.org/10.1016/j.clim.2016.08.016

المؤلفون: Raif S. Geha, Brittney Cangemi, Birgitta Schmidt, Craig D. Platt, Michel J. Massaad, Hasan Al-Dhekri

المصدر: Journal of Allergy and Clinical Immunology. 140:268-271.e6

مصطلحات موضوعية: Male, 0301 basic medicine, Biopsy, DNA Mutational Analysis, Immunology, Article, 03 medical and health sciences, 0302 clinical medicine, Humans, Immunology and Allergy, Medicine, Genetic Predisposition to Disease, Allele, Skin pathology, Alleles, Genetic Association Studies, Skin, Genetics, Extramural, business.industry, Janus kinase 3, Homozygote, Janus Kinase 3, Phenotype, Pedigree, RNA Splice Sites, 030104 developmental biology, 030220 oncology & carcinogenesis, Mutation, RNA splicing, Mutation (genetic algorithm), Female, business, Biomarkers

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e86d747bd700565068c297c23e77306d
https://doi.org/10.1016/j.jaci.2016.09.057

المؤلفون: Brittney Cangemi, Yousef R. Badran, Daniel Kamin, Waleed Al-Herz, Craig D. Platt, Michel J. Massaad, Raif S. Geha, Bram P. Raphael, Jeff Goldsmith, Wayne Bainter, Janet Chou, Sung-Yun Pai

المصدر: The Journal of allergy and clinical immunology. 136(3)

مصطلحات موضوعية: Male, business.industry, T-Lymphocytes, Immunology, Hematopoietic Stem Cell Transplantation, Gene Expression, Opportunistic Infections, medicine.disease, Colitis, Lymphocyte Activation, Hypogammaglobulinemia, Inducible T-Cell Co-Stimulator Protein, Agammaglobulinemia, Child, Preschool, Mutation, Immunology and Allergy, Medicine, Humans, Genetic Predisposition to Disease, business, Novel mutation

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::94f78a437154b153e9efc93f5eefab08
https://pubmed.ncbi.nlm.nih.gov/25678089

المؤلفون: Janet Chou, Raif S. Geha, Salma Oussalam, Reda Djidjik, Kheira Bendissari-Bouzid, Azzedine Tahiat, Michel J. Massaad, Zakaria-Merouane Labgaa, Assia Kaddouri-Slimani, Ayad Belarbi, Merzak Gharnaout, Yousef R. Badran, Gérard Lefranc, Brittney Cangemi

المصدر: Journal of Allergy and Clinical Immunology. 139:372-375.e4

مصطلحات موضوعية: 0301 basic medicine, Genetics, Immunology, Epidermodysplasia verruciformis, Biology, medicine.disease, Virology, 03 medical and health sciences, 030104 developmental biology, 0302 clinical medicine, Genetic etiology, Genetic marker, 030220 oncology & carcinogenesis, Mutation (genetic algorithm), medicine, Immunology and Allergy, Young adult

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::c58a5f7e6e94e636db5f351d612343a4
https://doi.org/10.1016/j.jaci.2016.07.024