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Journal Article
Journal of allergy and clinical immunology, ISSN 0091-6749, 2015, Volume 136, Issue 4, pp. 993 - 1006.e1
Journal Article
Journal of allergy and clinical immunology, ISSN 0091-6749, 2015, Volume 135, Issue 6, pp. 1558 - 1568.e2
Background Invasive infections of the central nervous system (CNS) or digestive tract caused by commensal fungi of the genus Candida are rare and... 
Allergy and Immunology | colitis | inherited CARD9 deficiency | invasive fungal diseases | primary immunodeficiency | Inborn error of immunity | Candida species | human | central nervous system | CHRONIC GRANULOMATOUS-DISEASE | IMMUNOLOGY | CEREBROSPINAL-FLUID | CHRONIC MUCOCUTANEOUS CANDIDIASIS | FUNGAL-INFECTIONS | INBORN-ERRORS | HYPER-IGE SYNDROME | CEREBRAL CANDIDIASIS | MASS LESION | ALLERGY | CENTRAL-NERVOUS-SYSTEM | IL-17 IMMUNITY | Colitis - genetics | Humans | CARD Signaling Adaptor Proteins - deficiency | Central Nervous System - pathology | Colitis - pathology | Male | Candidiasis, Invasive - genetics | Genetic Loci | Central Nervous System - immunology | Gastrointestinal Tract - pathology | CARD Signaling Adaptor Proteins - genetics | Meningoencephalitis - immunology | Gastrointestinal Tract - immunology | Adult | Female | Candida - immunology | Candidiasis, Invasive - pathology | Colitis - immunology | Child | Central Nervous System - microbiology | CARD Signaling Adaptor Proteins - immunology | Gene Expression | Genome-Wide Association Study | Meningoencephalitis - genetics | Gastrointestinal Tract - microbiology | Sequence Analysis, DNA | Homozygote | Colitis - microbiology | Candidiasis, Invasive - immunology | Pedigree | Meningoencephalitis - microbiology | Meningoencephalitis - pathology | Adolescent | Consanguinity | Candidiasis, Invasive - microbiology | Immunodeficiency | Mycoses | Respiratory tract diseases | Cross infection | Colitis | Nosocomial infections | Meningoencephalitis | Substance abuse treatment | Nuclear magnetic resonance--NMR | Headaches | Infections | Patients | Proteins | Inflammatory bowel disease | Infectious diseases | Plasmids | Biopsy | Vomiting | Deaths | Mutation | Age | Life Sciences | Allergology | Immunology
Journal Article
Journal Article
Journal of allergy and clinical immunology, ISSN 0091-6749, 2013, Volume 131, Issue 6, pp. 1594 - 1603.e9
Background Primary immunodeficiencies are a rare group of inborn diseases characterized by a broad clinical and genetic heterogeneity. Substantial advances in... 
Allergy and Immunology | thymus | T-cell immunodeficiency | mucosal-associated invariant T cell | severe combined immune deficiency | EBV-associated B-cell lymphoproliferation | invariant natural killer T cell | Primary immunodeficiency | HOMEOSTASIS | WISKOTT-ALDRICH-SYNDROME | THYMIC EGRESS | SYNDROME PROTEIN | IMMUNOLOGY | MATURATION | T-LYMPHOCYTE | ALLERGY | KINASE ITK | INKT CELL | GENERATION | MUTATIONS | Immunologic Deficiency Syndromes - pathology | Humans | Infant | Male | Exome | Base Sequence | B-Lymphocytes - virology | Female | Immunologic Deficiency Syndromes - immunology | Child | Gene Order | Microfilament Proteins - genetics | B-Lymphocytes - metabolism | Siblings | Amino Acid Sequence | Microfilament Proteins - chemistry | Gene Expression | Microfilament Proteins - deficiency | Protein Structure, Secondary | Lymphoproliferative Disorders - virology | Herpesvirus 4, Human - immunology | Models, Molecular | Lymphoproliferative Disorders - genetics | Lymphoproliferative Disorders - pathology | Sequence Alignment | Pedigree | Immunologic Deficiency Syndromes - genetics | Consanguinity | Mutation | T cells | Genomics | Risk factors | Immunodeficiency | Antigens | Genealogy | Genes | Families & family life | Kinases | Patients | Streptococcus infections | Proteins | Chemotherapy | Parents & parenting | Lymphocytes | Tetanus | Genetic testing | Potassium | Age | Deoxyribonucleic acid--DNA | Life Sciences | Human health and pathology
Journal Article
Journal of allergy and clinical immunology, ISSN 0091-6749, 2009, Volume 124, Issue 6, pp. 1311 - 1318.e7
Background Defects in the development or activation of T cells result in immunodeficiency associated with severe infections early in life. T-cell activation... 
Allergy and Immunology | calcium channel | store-operated Ca | signal transduction | anhydrotic ectodermal dysplasia | T cells | CRAC | amelogenesis imperfecta | dental enamel | entry | STIM1 | ORAI1 | immunodeficiency | congenital myopathy | ACTIVATED CALCIUM-CHANNELS | IMMUNE-DEFICIENCY | IMMUNOLOGY | T-CELL IMMUNODEFICIENCY | MICE LACKING | SKELETAL-MUSCLE | INFLUX | ALLERGY | Ca2 | store-operated Ca2+ entry | MUTATION | PORE SUBUNIT | CRAC CHANNEL | Immunologic Deficiency Syndromes - pathology | Cell Adhesion Molecules - genetics | Frameshift Mutation | Calcium Channels - metabolism | Calcium - metabolism | Humans | Mutation, Missense | Neoplasm Proteins - metabolism | Ectodermal Dysplasia - metabolism | Transfection | Ectodermal Dysplasia - pathology | Membrane Proteins - metabolism | Neoplasm Proteins - genetics | Calcium Channels - genetics | Stromal Interaction Molecule 1 | ORAI2 Protein | Membrane Proteins - genetics | Muscular Diseases - metabolism | Stromal Interaction Molecule 2 | Muscular Diseases - pathology | Cell Adhesion Molecules - metabolism | ORAI1 Protein | Homozygote | Immunologic Deficiency Syndromes - genetics | Immunologic Deficiency Syndromes - metabolism | Ectodermal Dysplasia - genetics | Muscular Diseases - genetics | Calcium Channels - deficiency | Proteins | Cytomegalovirus | Cell growth | Plasmids | Lymphocytes | Cloning | Protein expression | Mutation | Gene expression | Patients | Age | Deoxyribonucleic acid--DNA
Journal Article
Journal of clinical immunology, ISSN 1573-2592, 2017, Volume 38, Issue 1, pp. 129 - 143
...ORIGINAL ARTICLE The 2017 IUIS Phenotypic Classification for Primary Immunodeficiencies Aziz Bousfiha 1 & Leïla Jeddane 1,2 & Capucine Picard 3,4 & Fatima... 
Medical Microbiology | Biomedicine | Immunology | Primary immunodeficiencies | IUIS | Classification | Infectious Diseases | Internal Medicine | Inborn errors of immunity | Phenotypic | DISEASES | IMMUNOLOGY | Immunodeficiency | Hypersensitivity | Malignancy | Original
Journal Article
Nature immunology, ISSN 1529-2916, 2016, Volume 17, Issue 11, pp. 1291 - 1299
Journal Article