المؤلفون: Raif S. Geha, Juan Manuel Leyva Castillo, Janet Chou, Fatma Dedeoglu, Jeff Goldsmith, Wayne Bainter, Yousef R. Badran, Athos Bousvaros, Toshiro K. Ohsumi

المصدر: The Journal of Experimental Medicine

مصطلحات موضوعية: 0301 basic medicine, Proband, Male, Programmed cell death, Stromal cell, Immunology, Haploinsufficiency, Caspase 8, 03 medical and health sciences, 0302 clinical medicine, Skin Ulcer, Immunology and Allergy, Medicine, Animals, Humans, Exome, Colitis, Oral Ulcer, Research Articles, Cells, Cultured, Genes, Dominant, Mice, Knockout, Base Sequence, business.industry, Tumor Necrosis Factor-alpha, Gene Expression Profiling, Dextran Sulfate, Brief Definitive Report, NF-kappa B, Transcription Factor RelA, Sequence Analysis, DNA, Fibroblasts, medicine.disease, 3. Good health, Pedigree, 030104 developmental biology, Apoptosis, Chronic Disease, Cancer research, Tumor necrosis factor alpha, Female, business, 030215 immunology

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5d84a9f625fb5a3d2085db5660f71633Test
http://europepmc.org/articles/PMC5502421Test

المؤلفون: Waleed Al-Herz, Janet Chou, Ottavia Maria Delmonte, Michel J. Massaad, Wayne Bainter, Riccardo Castagnoli, Christoph Klein, Yenan T. Bryceson, Raif S. Geha, Luigi D. Notarangelo

المصدر: Frontiers in Immunology
Frontiers in Immunology, Vol 9 (2019)

مصطلحات موضوعية: lcsh:Immunologic diseases. Allergy, Male, 0301 basic medicine, Genetic counseling, Immunology, Population, Polymorphism, Single Nucleotide, Cohort Studies, Consanguinity, 03 medical and health sciences, Combined immunodeficiencies, symbols.namesake, 0302 clinical medicine, Exome Sequencing, Humans, Immunology and Allergy, Medicine, Genetic Predisposition to Disease, education, Alleles, Genetic Association Studies, In Situ Hybridization, Fluorescence, Exome sequencing, Original Research, Genetic testing, Genetics, Whole genome sequencing, Sanger sequencing, education.field_of_study, medicine.diagnostic_test, business.industry, Immunologic Deficiency Syndromes, autosomal recessive, medicine.disease, Pedigree, 3. Good health, Genetics, Population, 030104 developmental biology, Kuwait, Mutation, Primary immunodeficiency, symbols, Female, genetic, lcsh:RC581-607, business, Biomarkers, primary immunodeficiencies, 030215 immunology

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::41bdac887d125b727c80b6a4f4555626Test
https://doi.org/10.3389/fimmu.2018.03146Test

المؤلفون: Anant Vatsayan, Fedik Rahimov, Waleed Al-Herz, Colin A. Sieff, Mark D. Fleming, Basel K. al-Ramadi, E. Graham Davies, Michel J. Massaad, Martha Sola-Visner, Raif S. Geha, Narayanaswamy Ramesh, Haifa H. Jabara, Nancy C. Andrews, Wayne Bainter, Eli Silver, David Fraulino, Steven E. Boyden, Rand Arnaout, Salem H. Alshemmari, Sanjay P Ahuja, Louis M. Kunkel, Hasan Al-Dhekri, Mohammad Abu-Shukair, Zhi-Jian Liu, Janet Chou, Toshiro K. Ohsumi, Halli Benson, Luigi D. Notarangelo

المصدر: Nature Genetics. 48:74-78

مصطلحات موضوعية: Male, 0301 basic medicine, medicine.medical_specialty, Lymphocyte, media_common.quotation_subject, Mutation, Missense, Cell Cycle Proteins, Transferrin receptor, Adaptive Immunity, Biology, Endocytosis, 03 medical and health sciences, Antigens, CD, Internal medicine, Receptors, Transferrin, Genetics, medicine, Animals, Humans, Missense mutation, Receptor, Internalization, Cells, Cultured, Immunodeficiency, media_common, Oncogene Proteins, chemistry.chemical_classification, B-Lymphocytes, Immunologic Deficiency Syndromes, Anemia, Fibroblasts, medicine.disease, Molecular biology, Mice, Mutant Strains, Pedigree, 3. Good health, Mice, Inbred C57BL, 030104 developmental biology, Endocrinology, medicine.anatomical_structure, chemistry, Transferrin, Female, Oxidoreductases

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::554a57ef01a1e625821aeae18c7a69a3Test
https://doi.org/10.1038/ng.3465Test