المؤلفون: Nima Rezaei, Raif S. Geha, Hassan Abolhassani, Capucine Picard, Asghar Aghamohammadi, Iraj Mohammadzadeh, Lennart Hammarström, Alireza Ghajar, Najmeddin Kalantari, Wayne Bainter, Mahmood Tavassoli, Farahzad Jabbari-Azad, Reza Amin, Delara Babaie, Habib Soheili, Mohammad Hossein Eslamian, Mehrnaz Mesdaghi, Janet Chou, Nima Parvaneh, Sevgi Keles, Arash Havaei, Craig D. Platt, Taher Cheraghi, Mohammamd Nabavi, Masoud Movahedi, Talal A. Chatila, Mohammad Taghi Joghataei, Michel J. Massaad, Mohsen Afarideh, Javad Mohammadi, Mohammad Hassan Bemanian, Zahra Chavoshzadeh, Hamid Ahanchian, Soheila Aleyasin, Alireza Shafiei, Mohammad Gharagozlou, Seyed Hamidreza Mortazavi, Babak Negahdari, Basel K. al-Ramadi, Amir Ali Hamidieh, Javad Tafaroji, Mahboubeh Mansouri, Seyed Alireza Mahdaviani, Saba Arshi, Rasol Molatefi, Reza Faridhosseini, Tooba Momen, Mohsen Ghadami, Rasoul Nasiri Kalmarzi, Maryam Khoshkhui, Marzieh Tavakol, Roya Sherkat, Afshin Shirkani, Nasrin Behniafard, Abbas Dabbaghzadeh, Reza Yazdani, Gholamreza Azizi, Abbas Khalili, Javad Ghaffari

المصدر: Journal of Allergy and Clinical Immunology. 141:1450-1458

مصطلحات موضوعية: Male, STAT3 Transcription Factor, 0301 basic medicine, medicine.medical_specialty, Adolescent, Immunology, Genes, Recessive, Disease, Consanguinity, Iran, Biology, 03 medical and health sciences, Combined immunodeficiencies, Internal medicine, medicine, Humans, Immunology and Allergy, Genetic Predisposition to Disease, Child, Survival rate, Immunodeficiency, Exome sequencing, Retrospective Studies, Immunologic Deficiency Syndromes, High-Throughput Nucleotide Sequencing, Infant, Sequence Analysis, DNA, medicine.disease, Survival Rate, Phenotype, 030104 developmental biology, Child, Preschool, Mutation, Ataxia-telangiectasia, Primary immunodeficiency, Female, Job Syndrome

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::715b8af525ae077852802067ee57b227Test
https://doi.org/10.1016/j.jaci.2017.06.049Test

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

المؤلفون: Catherine Sodroski, Rodrigo Hoyos-Bachiloglu, Abdallah Beano, Fahd Almanjomi, Magdalena Angelova, Mohamed Al Shehri, Raif S. Geha, Janet Chou, Murad K. Habazi, Eman Al Idrissi, Wayne Bainter, Morsi Alaa Eldin, Mofareh AlZahrani, Hamza Ali Alghamdi, Nagi Elsidig, David M. Knipe

مصطلحات موضوعية: 0301 basic medicine, Male, Cytomegalovirus, Mycobacterium Infections, Nontuberculous, Bacteremia, Receptor, Interferon alpha-beta, medicine.disease_cause, Frameshift mutation, 03 medical and health sciences, Mutant protein, Streptococcal Infections, medicine, Humans, STAT1, Viremia, STAT2, Phosphorylation, Gene, Immunodeficiency, Receptors, Interferon, Mutation, biology, Mycobacterium abscessus, Concise Communication, Genetic Diseases, Inborn, Immunologic Deficiency Syndromes, STAT2 Transcription Factor, General Medicine, Fibroblasts, medicine.disease, Viridans Streptococci, Molecular biology, Stop codon, 030104 developmental biology, STAT1 Transcription Factor, Cytomegalovirus Infections, biology.protein, Female

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::02af3471a45965ea485c5fd6e7cc1c48Test
https://europepmc.org/articles/PMC5707159Test/