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, Vol 9 (2019)

مصطلحات موضوعية: primary immunodeficiencies, genetic, consanguinity, autosomal recessive, mutation, Immunologic diseases. Allergy, RC581-607

وصف الملف: electronic resource

Relation: https://www.frontiersin.org/article/10.3389/fimmu.2018.03146/full; https://doaj.org/toc/1664-3224

URL الوصول: https://doaj.org/article/a7f287977a63457aaec2373277ea6188

المؤلفون: Katharine Z. Coyte, Seth Rakoff-Nahoum, Camilia R. Martin, Chitong Rao, Raif S. Geha, Wayne Bainter

المصدر: Rao, C, Coyte, K Z, Bainter, W, Geha, R S, Martin, C R & Rakoff-Nahoum, S 2021, ' Multi-kingdom ecological drivers of microbiota assembly in preterm infants ', Nature . https://doi.org/10.1038/s41586-021-03241-8

مصطلحات موضوعية: Male, Microorganism, Ecology (disciplines), Gestational Age, Gut flora, digestive system, 03 medical and health sciences, Abundance (ecology), Humans, Ecosystem, Microbiome, General, 030304 developmental biology, 0303 health sciences, Multidisciplinary, biology, 030306 microbiology, Ecology, Infant, Newborn, Infant, Reproducibility of Results, Biodiversity, Experimental validation, biology.organism_classification, Bacterial Load, Diet, Gastrointestinal Microbiome, Microbial Interactions, Female, Infant, Premature, Archaea

وصف الملف: application/vnd.openxmlformats-officedocument.wordprocessingml.document

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::001167f309cebb05f797aad2f630467c
https://doi.org/10.1038/s41586-021-03241-8

المؤلفون: Barbara Yang, Hazel Wilkie, Mrinmoy Das, Maheshwor Timilshina, Wayne Bainter, Brian Woods, Michelle Daya, Meher P. Boorgula, Rasika A. Mathias, Peggy Lai, Carter R. Petty, Edie Weller, Hani Harb, Talal A. Chatila, Donald Y.M. Leung, Lisa A. Beck, Eric L. Simpson, Tissa R. Hata, Kathleen C. Barnes, Wanda Phipatanakul, Juan-Manuel Leyva-Castillo, Raif S. Geha

المصدر: Journal of Allergy and Clinical Immunology. 151:1296-1306.e7

مصطلحات موضوعية: Immunology, Immunology and Allergy

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::249907ebb664b8a107046b6890132b67
https://doi.org/10.1016/j.jaci.2023.01.011

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

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e44723c58581bfe1ab739559710838be
https://pubmed.ncbi.nlm.nih.gov/34533979

المؤلفون: Victor W. Hsu, Seung-Yeol Park, Tobias C. Walther, Raif S. Geha, Maria Tsokos, Sarah Beaussant-Cohen, Seth Rakoff-Nahoum, Wayne Bainter, Shafiq Ur Rehman Naseem, Craig D. Platt, Janet Chou, Zachary Peters, Michel J. Massaad, Jennifer Jones, Chitong Rao, Michel Becuwe, Jordan S. Orange, Faris Jaber, Salem Al-Tamemi, Sandra Andrea Salinas, Jacqueline G. Wallace, Jia-Shu Yang, Kelsey Stafstrom

المصدر: J Clin Invest

مصطلحات موضوعية: 0301 basic medicine, Cellular immunity, Receptors, Peptide, T-Lymphocytes, KDEL, Mutation, Missense, Golgi Apparatus, Apoptosis, Gene mutation, Endoplasmic Reticulum, Lymphocyte Activation, Coatomer Protein, Mice, 03 medical and health sciences, symbols.namesake, 0302 clinical medicine, Animals, Humans, Defective T cell proliferation, B-Lymphocytes, Chemistry, Endoplasmic reticulum, General Medicine, COPI, Golgi apparatus, Endoplasmic Reticulum Stress, Mice, Mutant Strains, Cell biology, 030104 developmental biology, Amino Acid Substitution, 030220 oncology & carcinogenesis, Unfolded protein response, symbols, Severe Combined Immunodeficiency, Research Article

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::299891811f4bf8261095c8b0e62c65ad
https://doi.org/10.1172/jci140494

المؤلفون: Katharine Z. Coyte, Raif S. Geha, Seth Rakoff-Nahoum, Wayne Bainter, Camilia R. Martin, Chitong Rao

مصطلحات موضوعية: 0303 health sciences, Ecological modelling, Experimental validation, 15. Life on land, Biology, Gut flora, biology.organism_classification, Early life, 03 medical and health sciences, 0302 clinical medicine, Abundance (ecology), Evolutionary biology, Microbiome, Longitudinal cohort, Inverse correlation, 030217 neurology & neurosurgery, 030304 developmental biology

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::bc44cb69a0eef491ae6a62a526df3341

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

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::715b8af525ae077852802067ee57b227
https://doi.org/10.1016/j.jaci.2017.06.049

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

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4caba26cc19741780a1bd9cd9dddff01
https://pubmed.ncbi.nlm.nih.gov/30858051

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

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5d84a9f625fb5a3d2085db5660f71633
http://europepmc.org/articles/PMC5502421

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

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::88aec0de051809992dcc604d8c4d811c
https://doi.org/10.1016/j.clim.2017.09.007

المؤلفون: Peter A. Nigrovic, Kelsey Stafstrom, Paul A. Brogan, Carla Irani, Pui Y. Lee, Christa Krupski, Janet Chou, Rasha El-Owaidy, Craig D. Platt, Sara Sebnem Kilic, Irit Tirosh, Eugene P. Chambers, Tali Stauber, Raif S. Geha, Raju Khubchandani, Zeina Baz, Z. Huang, M.R. Lokeshwar, Mohammed F. Alosaimi, Despina Eleftheriou, Wayne Bainter, Pallavi Pimpale, Michael B. Jordan, Ali Sobh, Erinn S. Kellner, Qing Zhou, Aaron R. Weiss, Somech Raz, Gérard Lefranc, Yuelong Huang, Elissa Furutani

المصدر: J Allergy Clin Immunol

مصطلحات موضوعية: Male, Vasculitis, Adenosine Deaminase 2 Deficiency, Genotype, Adenosine Deaminase, Immunology, Hepatosplenomegaly, Pure red cell aplasia, Red-Cell Aplasia, Pure, Article, medicine, Humans, Immunology and Allergy, Missense mutation, Child, business.industry, Bone marrow failure, Infant, Bone Marrow Failure Disorders, medicine.disease, Phenotype, Hematologic disease, Child, Preschool, Mutation, Intercellular Signaling Peptides and Proteins, Female, medicine.symptom, business, Metabolism, Inborn Errors

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e8081d2779c10ab62d9333a1daf07253
https://doi.org/10.1016/j.jaci.2019.12.908

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

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::d27055e67b0f1ccd7c12f13554230991
https://doi.org/10.1007/978-3-030-21262-9_29

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

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::a36431626b8cf7f5f20ac805d5dc54bd
https://doi.org/10.1007/978-3-030-21262-9_36

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

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::329df91d56f611cefcd74962fcb9f5b5
https://europepmc.org/articles/PMC6387453/

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

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::554a57ef01a1e625821aeae18c7a69a3
https://doi.org/10.1038/ng.3465

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: 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

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::02af3471a45965ea485c5fd6e7cc1c48
https://europepmc.org/articles/PMC5707159/

المؤلفون: Rajaa Al-Attiyah, Joyce T. Hsu, Janet Chou, Waleed Al-Herz, Raif S. Geha, Wayne Bainter

المصدر: Clinical Immunology. 161:128-130

مصطلحات موضوعية: Autoimmune disease, Pathology, medicine.medical_specialty, Mutation, business.industry, Immunology, Late onset, medicine.disease, medicine.disease_cause, Chronic granulomatous disease, Duodenitis, immune system diseases, Immunology and Allergy, Medicine, In patient, business, Novel mutation, Exome sequencing

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::f9d096dbaf73910fcc5718d9d28100dc
https://doi.org/10.1016/j.clim.2015.08.003

المؤلفون: Rahsan Gocmen, Talal A. Chatila, Betul Karaatmaca, Deniz Cagdas Ayvaz, Janet Chou, Ilhan Tezcan, Pınar Gur Cetinkaya, Figen Söylemezoğlu, Wayne Bainter

المصدر: Clinical immunology (Orlando, Fla.). 191

مصطلحات موضوعية: 0301 basic medicine, Adolescent, Immunology, Nonsense mutation, 03 medical and health sciences, Central Nervous System Fungal Infections, medicine, Immunology and Allergy, Humans, Receptor, Caspase, Innate immune system, biology, Pattern recognition receptor, Intracellular Signaling Peptides and Proteins, Signal transducing adaptor protein, medicine.disease, CARD Signaling Adaptor Proteins, 030104 developmental biology, Mycoses, Codon, Nonsense, Mutation (genetic algorithm), Primary immunodeficiency, biology.protein, Female

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6a418edea860e0099c7aeba3b0d50367
https://pubmed.ncbi.nlm.nih.gov/29307770

المؤلفون: Şerife Gül Karadağ, Janet Chou, Nuray Aktay-Ayaz, Eda Tahir-Turanlı, Kelsey Stafstrom, Raif S. Geha, Wayne Bainter, Mustafa Çakan

المصدر: The Turkish Journal of Pediatrics. 61:413

مصطلحات موضوعية: Gastrointestinal bleeding, business.industry, Disease, Amaurosis fugax, medicine.disease, Phenotype, Etanercept, 03 medical and health sciences, 0302 clinical medicine, 030225 pediatrics, Pediatrics, Perinatology and Child Health, Immunology, Medicine, medicine.symptom, business, Vasculitis, Stroke, 030217 neurology & neurosurgery, Immunodeficiency, medicine.drug

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::3fa8744dabbd23055faf400be17a9512
https://doi.org/10.24953/turkjped.2019.03.014