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Journal of Allergy and Clinical Immunology, The, ISSN 0091-6749, 2015, Volume 136, Issue 2, pp. 479 - 482.e1
Journal Article
Journal of Allergy and Clinical Immunology, The, ISSN 0091-6749, 2015, Volume 137, Issue 3, pp. 879 - 888.e2
Background Coronin-1A (CORO1A) is a regulator of actin dynamics important for T-cell homeostasis. CORO1A deficiency causes T− B+ natural killer–positive severe... 
Allergy and Immunology | T-cell lymphopenia | immunodeficiency | Coronin-1A | CORONIN 1A | SURVIVAL | SEVERE COMBINED IMMUNODEFICIENCY | ACTIVATION | PROTEIN | ACTIN | SERUM | IMMUNOLOGY | DEFICIENCY | MYCOBACTERIA | HEALTHY-CHILDREN | ALLERGY | T-Lymphocyte Subsets - immunology | Frameshift Mutation | Immunoglobulins - immunology | Humans | Actins - metabolism | Cell Survival - genetics | Male | Skin Diseases - pathology | CD4-Positive T-Lymphocytes - immunology | Warts - pathology | Cell Degranulation - genetics | DNA Mutational Analysis | Immunoglobulins - blood | Protein Multimerization - genetics | Actins - chemistry | Female | Microfilament Proteins - metabolism | Microfilament Proteins - genetics | Siblings | Microfilament Proteins - chemistry | Signal Transduction | CD4-Positive T-Lymphocytes - metabolism | Virus Diseases - metabolism | Cell Degranulation - immunology | Protein Transport | Virus Diseases - etiology | Homozygote | Phenotype | Animals | Lymphopenia | Pedigree | T-Lymphocyte Subsets - metabolism | Virus Diseases - diagnosis | Adolescent | Cytoskeleton - metabolism | Lymphocyte Count | Mice | Mutation | Oligomers | Medical colleges | Relapse | Actin | Immunodeficiency | Medical genetics | Genetic aspects | Molecular biology | T cells | Health aspects | Diseases | Kinases | Lymphocytes | Viral infections | Index Medicus | Abridged Index Medicus | T cell lymphopenia
Journal Article
Journal of Experimental Medicine, ISSN 0022-1007, 07/2017, Volume 214, Issue 7, pp. 1937 - 1947
Journal Article
Journal of Allergy and Clinical Immunology, The, ISSN 0091-6749, 2015, Volume 136, Issue 3, pp. 794 - 797.e1
Journal Article
The Journal of Allergy and Clinical Immunology, ISSN 0091-6749, 12/2017, Volume 140, Issue 6, pp. 1651 - 1659.e1
Journal Article
Journal of Clinical Investigation, ISSN 0021-9738, 12/2017, Volume 127, Issue 12, pp. 4415 - 4420
Primary immunodeficiencies are often monogenic disorders characterized by vulnerability to specific infectious pathogens. Here, we performed whole-exome... 
MEDICINE, RESEARCH & EXPERIMENTAL | IMMUNITY | ACTIVATOR | INTERFERON-GAMMA | MYCOBACTERIAL DISEASE | ALPHA/BETA | MENDELIAN SUSCEPTIBILITY | CLINICAL-FEATURES | DEFICIENCY | SIGNAL TRANSDUCER | INBORN-ERRORS | Bacteremia - immunology | Genetic Diseases, Inborn - microbiology | STAT2 Transcription Factor - immunology | Humans | Genetic Diseases, Inborn - genetics | Genetic Diseases, Inborn - virology | Male | Cytomegalovirus Infections - immunology | Cytomegalovirus Infections - genetics | Bacteremia - microbiology | Streptococcal Infections - genetics | Phosphorylation - genetics | Female | Phosphorylation - immunology | Receptor, Interferon alpha-beta - genetics | Fibroblasts - microbiology | Mycobacterium Infections, Nontuberculous - immunology | Immunologic Deficiency Syndromes - immunology | Receptors, Interferon - genetics | Fibroblasts - virology | Genetic Diseases, Inborn - immunology | Viremia - genetics | Viridans Streptococci - immunology | Bacteremia - genetics | Immunologic Deficiency Syndromes - virology | STAT1 Transcription Factor - genetics | Immunologic Deficiency Syndromes - microbiology | STAT1 Transcription Factor - immunology | Cytomegalovirus - immunology | Mycobacterium abscessus - immunology | Receptor, Interferon alpha-beta - immunology | Receptors, Interferon - immunology | Viremia - virology | STAT2 Transcription Factor - genetics | Immunologic Deficiency Syndromes - genetics | Fibroblasts - immunology | Viremia - immunology | Streptococcal Infections - immunology | Mutation | Mycobacterium Infections, Nontuberculous - genetics | Virus diseases | Usage | Immunotherapy | Genetic aspects | Disease susceptibility | Research | Mutation (Biology) | Stat2 protein | Cytomegalovirus | Phosphorylation | Viremia | Immunodeficiency | Stop codon | C-Terminus | Gene deletion | Bacteremia | Nuclear transport | α-Interferon | Clonal deletion | Fibroblasts | Interferon | Codons | Stat1 protein | Viral infections | Index Medicus | Abridged Index Medicus
Journal Article
The Journal of Allergy and Clinical Immunology, ISSN 0091-6749, 04/2018, Volume 141, Issue 4, pp. 1450 - 1458
Combined immunodeficiencies (CIDs) are diseases of defective adaptive immunity with diverse clinical phenotypes. Although CIDs are more prevalent in the Middle... 
next-generation DNA sequencing | targeted gene panel sequencing | Combined immunodeficiencies | whole-exome sequencing | UNITED-STATES | COMMON VARIABLE IMMUNODEFICIENCY | DISORDERS | IMMUNOLOGY | CENTERS | DISEASES | IRAN | ALLERGY | MOLECULAR DIAGNOSIS | UPDATE | T-CELLS | REGISTRY | Job Syndrome - immunology | Job Syndrome - genetics | Genes, Recessive - genetics | Job Syndrome - mortality | Humans | Child, Preschool | Infant | Male | Mutation - immunology | Iran | Immunologic Deficiency Syndromes - mortality | Female | Retrospective Studies | High-Throughput Nucleotide Sequencing - methods | Immunologic Deficiency Syndromes - immunology | Child | STAT3 Transcription Factor - genetics | Genetic Predisposition to Disease - genetics | Survival Rate | Mutation - genetics | Phenotype | Adolescent | Immunologic Deficiency Syndromes - genetics | Consanguinity | STAT3 Transcription Factor - immunology | Sequence Analysis, DNA - methods | Genes, Recessive - immunology | Genetic research | Immunodeficiency | Transcription | Laboratories | Genes | Immunoglobulin E | DNA repair | Immunity | Genetic screening | Defects | Gene sequencing | Ataxia | Diagnosis | Job's syndrome | Age | Deoxyribonucleic acid--DNA | Mortality | V(D)J recombination | Stat3 protein | Data processing | Adaptive immunity | Patients | Ataxia telangiectasia | Ataxia telangiectasia mutated protein | Diagnostic systems | Mutation | DNA sequencing
Journal Article
Frontiers in immunology, ISSN 1664-3224, 2018, Volume 9, pp. 3146 - 3146
Objective: To present the genetic causes of patients with primary immune deficiencies (PIDs) in Kuwait between 2004 and 2017. Methods: The data was obtained... 
genetic | mutation | primary immunodeficiencies | consanguinity | autosomal recessive | DIAGNOSIS | CLINICAL-FEATURES | IMMUNOLOGY | NATIONAL REGISTRY | DEFICIENCY | DISEASES | EXPERIENCE | MUTATIONS | Immunological deficiency syndromes | Care and treatment | Usage | Genetic aspects | High-throughput screening (Biochemical assaying)
Journal Article
The Journal of Allergy and Clinical Immunology, ISSN 0091-6749, 02/2019, Volume 143, Issue 2, pp. 797 - 799.e2
Journal Article
Journal of Allergy and Clinical Immunology, The, ISSN 0091-6749, 2014, Volume 133, Issue 2, pp. AB94 - AB94
Journal Article