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Journal of Allergy and Clinical Immunology, The, ISSN 0091-6749, 2012, Volume 130, Issue 5, pp. 1144 - 1152.e11
Background Signals emanating from the antigen T-cell receptor (TCR) are required for T-cell development and function. The T lymphocyte–specific protein... 
Allergy and Immunology | LCK, SRC tyrosine kinase | recurrent infections | CD4 | T-cell receptor signaling | autoinflammation | immunodeficiency | genetic defect | lymphopenia | ACTIVATION | COMPLEX | SRC tyrosine kinase | PROTEIN-TYROSINE KINASES | P56(LCK) | IMMUNOLOGY | MICE LACKING | SIGNAL-TRANSDUCTION | ALLERGY | LCK | MUTATION | DOCK8 DEFICIENCY | FYN | ANTIGEN RECEPTOR | Genetic Predisposition to Disease | T-Lymphocytopenia, Idiopathic CD4-Positive - diagnosis | Receptors, Antigen, T-Cell - metabolism | Genes, Recessive - genetics | Humans | Cells, Cultured | Child, Preschool | T-Lymphocytopenia, Idiopathic CD4-Positive - genetics | Mutation, Missense - genetics | Polymorphism, Genetic | CD4-Positive T-Lymphocytes - immunology | DNA Mutational Analysis | Pedigree | Immunologic Deficiency Syndromes - genetics | Lymphocyte Specific Protein Tyrosine Kinase p56(lck) - chemistry | Female | Lymphocyte Specific Protein Tyrosine Kinase p56(lck) - genetics | Calcium Signaling - genetics | France | Immunologic Deficiency Syndromes - diagnosis | Tyrosine | Antigens | T cells | Genes | Immunodeficiency | T cell receptors | Infections | Kinases | Viral infections | Immune system | Autoimmunity | Calcium mobilization | Phosphorylation | CD8 antigen | Recurrent infection | Inflammation | Lymphocytes T | Risk factors | CD4 antigen | Calcium signalling | T-cell receptor | Missense mutation | Lymphopenia | Lck protein | Respiratory tract diseases | Differentiation | Protein-tyrosine kinase | Age | uniparental disomy | Life Sciences | Biochemistry, Molecular Biology
Journal Article
Journal of Allergy and Clinical Immunology, The, 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
Journal Article
Nature, ISSN 0028-0836, 2014, Volume 510, Issue 7504, pp. 288 - 292
Journal Article
FRONTIERS IN IMMUNOLOGY, ISSN 1664-3224, 07/2019, Volume 10, p. 1781
Journal Article
Current Opinion in Allergy and Clinical Immunology, ISSN 1528-4050, 12/2013, Volume 13, Issue 6, pp. 596 - 606
PURPOSE OF REVIEWThe purpose of this review is to summarize pathogenic mechanisms and clinical implications of the most illustrative genetic entities of... 
X-linked neutropenia | Severe congenital neutropenia | Vacuolar protein sorting 45 homolog | Haematopoietic cell specific LYN substrate 1 associated protein X-1 | Elastase neutrophil expressed | Glucose 6 phosphatase catalytic subunit 3 | Growth factor independent 1 transcription repressor | growth factor independent 1 transcription repressor | vacuolar protein sorting 45 homolog | COLONY-STIMULATING-FACTOR | glucose 6 phosphatase catalytic subunit 3 | ANTI-APOPTOTIC PROTEIN | ACTIN POLYMERIZATION | CARTILAGE-HAIR HYPOPLASIA | elastase neutrophil expressed | haematopoietic cell specific LYN substrate 1 associated protein X-1 | IMMUNOLOGY | HERMANSKY-PUDLAK-SYNDROME | HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS | ALLERGY | ORIGINAL KOSTMANN FAMILY | GRISCELLI SYNDROME | INTRACELLULAR PROTEIN | severe congenital neutropenia | Glucose-6-Phosphatase - genetics | Neutropenia - metabolism | Vesicular Transport Proteins - metabolism | Humans | Biological Transport, Active - genetics | Endoplasmic Reticulum Stress - genetics | Endoplasmic Reticulum Stress - immunology | Neutropenia - congenital | DNA-Binding Proteins - metabolism | Biological Transport, Active - immunology | Adaptor Proteins, Signal Transducing - immunology | Membrane Potential, Mitochondrial - genetics | Neutropenia - pathology | Neutropenia - genetics | Transcription Factors - immunology | Neutrophils - metabolism | Vesicular Transport Proteins - immunology | Neutropenia - immunology | Neutrophils - pathology | DNA-Binding Proteins - immunology | Unfolded Protein Response - genetics | Vesicular Transport Proteins - genetics | Neutrophils - immunology | Glucose-6-Phosphatase - immunology | Transcription Factors - genetics | DNA-Binding Proteins - genetics | Glucose-6-Phosphatase - metabolism | Transcription Factors - metabolism | Unfolded Protein Response - immunology | Membrane Potential, Mitochondrial - immunology | Adaptor Proteins, Signal Transducing - genetics | Adaptor Proteins, Signal Transducing - metabolism | Neutropenia - physiopathology
Journal Article
Journal of Allergy and Clinical Immunology, The, ISSN 0091-6749, 2016, Volume 139, Issue 4, pp. 1302 - 1310.e4
Journal Article
Proceedings of the National Academy of Sciences of the United States of America, ISSN 0027-8424, 12/2016, Volume 113, Issue 51, pp. E8277 - E8285
Journal Article
Diabetologia, ISSN 0012-186X, 2/2017, Volume 60, Issue 2, pp. 287 - 295
Journal Article
PLoS ONE, ISSN 1932-6203, 01/2016, Volume 11, Issue 1, p. e0146887
Journal Article
Journal of Clinical Investigation, ISSN 0021-9738, 07/2018, Volume 128, Issue 7, pp. 3071 - 3087