المؤلفون: Raif S. Geha, Stefano Maio, Wayne Bainter, Jeff Goldsmith, Erin Janssen, Silvia Parolini, Janet Chou, Yousef R. Badran, Manuela Baronio, Christy Kam, Hazel Wilkie, Paolo Incardona, Abdallah Beano, Georg A. Holländer, Vassilios Lougaris, Mrinmoy Das, Rodrigo Hoyos-Bachiloglu, Birgitta Schmidt, Phammela Abarzua, Alessandro Plebani, Maria Pia Bondioni, Zachary Peters, Giovanna Tabellini, Jacqueline G. Wallace, Antonella Meini, Luisa Bercich, Vincenzo Villanacci, George F. Murphy, Khaoula Ben Farhat

المصدر: Sci Immunol

مصطلحات موضوعية: genetic structures, Immunology, Mutation, Missense, Alpha (ethology), Autoimmunity, Mice, Transgenic, medicine.disease_cause, Complement factor B, Nuclear factor kappa b, Article, Mice, parasitic diseases, medicine, Missense mutation, Animals, Humans, Immunodeficiency, Kinase, Chemistry, General Medicine, medicine.disease, I-kappa B Kinase, Mice, Inbred C57BL, HEK293 Cells, Cancer research, Phosphorylation

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e44723c58581bfe1ab739559710838beTest
https://pubmed.ncbi.nlm.nih.gov/34533979Test

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: 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: Michel J. Massaad, Mohammed F. Alosaimi, Janet Chou, Raif S. Geha, Wayne Bainter, Hamid Nawaz Tipu, Kelsey Stafstrom, Jacqueline G. Wallace

المصدر: Clinical immunology (Orlando, Fla.). 202

مصطلحات موضوعية: Male, Pediatrics, medicine.medical_specialty, International Cooperation, Primary Immunodeficiency Diseases, Immunology, Immunophenotyping, Neonatal Screening, medicine, Global health, Immunology and Allergy, Humans, Pakistan, Child, Newborn screening, Severe combined immunodeficiency, business.industry, Infant, Newborn, International partnership, High-Throughput Nucleotide Sequencing, Infant, medicine.disease, Child, Preschool, Primary immunodeficiency, Female, business

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4caba26cc19741780a1bd9cd9dddff01Test
https://pubmed.ncbi.nlm.nih.gov/30858051Test

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: Hamid Nawaz Tipu, Wayne Bainter

المصدر: Pediatric Immunology ISBN: 9783030212612

مصطلحات موضوعية: Pediatrics, medicine.medical_specialty, Severe combined immunodeficiency, business.industry, Intravenous antibiotics, Failure to thrive, medicine, In patient, medicine.symptom, medicine.disease, business

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::d27055e67b0f1ccd7c12f13554230991Test
https://doi.org/10.1007/978-3-030-21262-9_29Test

المؤلفون: Hamid Nawaz Tipu, Wayne Bainter

المصدر: Pediatric Immunology ISBN: 9783030212612

مصطلحات موضوعية: Severe combined immunodeficiency, Recurrent respiratory tract infections, DCLRE1C, biology, business.industry, Immunology, Vdj recombination, biology.protein, Medicine, First year of life, Antibody, business, medicine.disease

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::a36431626b8cf7f5f20ac805d5dc54bdTest
https://doi.org/10.1007/978-3-030-21262-9_36Test

المؤلفون: Raif S. Geha, Wayne Bainter, Michael Seleman, Farah Naz Qamar, Janet Chou, Michel J. Massaad, Samina Junejo, Sonia Qureshi

المصدر: Clinical Immunology. 183:198-200

مصطلحات موضوعية: 0301 basic medicine, Severe combined immunodeficiency, 030102 biochemistry & molecular biology, medicine.medical_treatment, Immunology, Biology, medicine.disease, Virology, 03 medical and health sciences, 030104 developmental biology, Immune system, Cytokine, medicine, Immunology and Allergy, Missense mutation, Vertebral osteomyelitis, Receptor, Tyrosine kinase, Common gamma chain

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::88aec0de051809992dcc604d8c4d811cTest
https://doi.org/10.1016/j.clim.2017.09.007Test

المؤلفون: Lewis C. Cantley, Raif S. Geha, Wayne Bainter, Jennifer Jones, Farah Naz Qamar, Janet Chou, Jacqueline G. Wallace, Jared L. Johnson, Jenny C.Y. Wong, Sonia Qureshi, Ting-Yu Lin, Sarah Beaussant Cohen, Fatima Mir

مصطلحات موضوعية: Immunology, Mutant, Biology, medicine.disease, Acquired immune system, Article, Cell biology, P110δ, Primary immunodeficiency, medicine, Immunology and Allergy, A kinase, Signal transduction, Function (biology), Immunodeficiency

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::329df91d56f611cefcd74962fcb9f5b5Test
https://europepmc.org/articles/PMC6387453Test/

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