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Journal of Allergy and Clinical Immunology, The, ISSN 0091-6749, 2013, Volume 131, Issue 6, pp. 1611 - 1623.e3
Background Mutations in signal transducer and activator of transcription (STAT) 1 cause a broad spectrum of disease, ranging from severe viral and bacterial... 
Allergy and Immunology | Signal transducer and activator of transcription 1 | regulatory T cell | immune dysregulation–polyendocrinopathy–enteropathy–X-linked | chronic mucocutaneous candidiasis | forkhead box protein 3 | aneurysms | immune dysregulation-polyendocrinopathy-enteropathy-X-linked | IMMUNOLOGY | DEFICIENCY | DISEASES | ALLERGY | REGULATORY T-CELLS | IPEX | EXPRESSION | IMMUNODEFICIENCY | T-Lymphocytes, Regulatory - metabolism | Polyendocrinopathies, Autoimmune - diagnosis | Humans | Transcriptional Activation | Interleukin-17 - immunology | Child, Preschool | Male | Intestinal Diseases - immunology | Lymphocyte Subsets - immunology | T-Lymphocytes, Regulatory - immunology | Lymphocyte Subsets - metabolism | STAT1 Transcription Factor - metabolism | Genes, Dominant | Th17 Cells - metabolism | Interleukins - immunology | Female | Genetic Diseases, X-Linked - genetics | Polyendocrinopathies, Autoimmune - genetics | Phosphorylation - drug effects | Child | Intestinal Diseases - genetics | Immunophenotyping | DNA - metabolism | Forkhead Transcription Factors - genetics | STAT1 Transcription Factor - genetics | Genetic Diseases, X-Linked - diagnosis | Syndrome | Interferon-alpha - immunology | Polyendocrinopathies, Autoimmune - immunology | Genetic Diseases, X-Linked - immunology | Intestinal Diseases - diagnosis | Autoantibodies - immunology | Phenotype | Adolescent | Th17 Cells - immunology | Mutation | Cell Line, Transformed | Interferon-gamma - pharmacology | Autoimmunity | Medical colleges | Invisibility | Molecular genetics | Mycoses | Aneurysms | Genetic aspects | Children | Health aspects | Index Medicus | Abridged Index Medicus
Journal Article
Journal of Allergy and Clinical Immunology, The, ISSN 0091-6749, 2014, Volume 135, Issue 1, pp. 217 - 227.e9
Journal Article
Journal of Clinical Immunology, ISSN 0271-9142, 8/2014, Volume 34, Issue 6, pp. 627 - 632
Journal Article
Journal of Allergy and Clinical Immunology, The, ISSN 0091-6749, 2008, Volume 122, Issue 6, pp. 1105 - 1112.e1
Background Immune dysregulation, polyendocrinopathy, enteropathy, X-linked (IPEX) syndrome is an autoimmune genetic disorder caused by mutation of the forkhead... 
Allergy and Immunology | regulatory T cells | transcription factor | Immune dysregulation | autoimmunity | immunosuppressive treatment | polyendocrinopathy | enteropathy | X-linked syndrome | FOXP3 | bone marrow transplantation | Forkhead Transcription Factors - immunology | Polyendocrinopathies, Autoimmune - diagnosis | Humans | Polyendocrinopathies, Autoimmune - therapy | Male | Intestinal Diseases - immunology | DNA Mutational Analysis - methods | Mutation - immunology | Genetic Diseases, X-Linked - genetics | Polyendocrinopathies, Autoimmune - genetics | Immunologic Deficiency Syndromes - diagnosis | Immunologic Deficiency Syndromes - immunology | Immunologic Deficiency Syndromes - therapy | Gene Expression Regulation - genetics | Gene Expression Regulation - immunology | Intestinal Diseases - genetics | Genotype | Protein Structure, Tertiary - genetics | Forkhead Transcription Factors - genetics | Genetic Diseases, X-Linked - diagnosis | Syndrome | Polyendocrinopathies, Autoimmune - immunology | Intestinal Diseases - therapy | Genetic Diseases, X-Linked - immunology | Intestinal Diseases - diagnosis | Phenotype | Immunologic Deficiency Syndromes - genetics | Genetic Diseases, X-Linked - therapy | Genetic disorders | Stem cells | Bone marrow | Cystic fibrosis | Transplantation | Diabetes | Gene therapy | Antitank weapons | Proteins | Genotype & phenotype | Transplants & implants | Disease | Genes | Protein expression | Mutation | Patients | Age | Deoxyribonucleic acid--DNA | Index Medicus | Abridged Index Medicus
Journal Article
Journal Article
Journal of Allergy and Clinical Immunology, The, ISSN 0091-6749, 2015, Volume 136, Issue 5, pp. 1401 - 1404.e3
Journal Article
PLoS ONE, ISSN 1932-6203, 04/2017, Volume 12, Issue 4, pp. e0175961 - e0175961
The lack of BTK in X-linked agammaglobulinemia (XLA) patients does not affect monocytes and polymorphonuclear cells (PMN) phenotype and functions. In this... 
RHEUMATOID-ARTHRITIS | BRUTONS TYROSINE KINASE | RESPIRATORY BURST | ACTIVATION | PROTEIN | MEDIATED PHAGOCYTOSIS OCCURS | MACROPHAGES | MULTIDISCIPLINARY SCIENCES | OXIDATIVE BURST | CROSS-LINKING | RECEPTORS | Agammaglobulinemia - immunology | Reactive Oxygen Species - metabolism | Agammaglobulinemia - genetics | Calcium - metabolism | Humans | Middle Aged | Male | Monocytes - immunology | Respiratory Burst - immunology | Protein-Tyrosine Kinases - deficiency | Case-Control Studies | Protein-Tyrosine Kinases - immunology | Respiratory Burst - drug effects | Agammaglobulinemia - pathology | Protein-Tyrosine Kinases - genetics | Receptors, IgG - genetics | Agammaglobulinemia - drug therapy | Genetic Diseases, X-Linked - drug therapy | Reactive Oxygen Species - immunology | Leukocytes, Mononuclear - immunology | Monocytes - pathology | Adult | Genetic Diseases, X-Linked - genetics | Calcium Chelating Agents - pharmacology | Phagocytosis - drug effects | Leukocytes, Mononuclear - drug effects | Drug Administration Schedule | Signal Transduction | Gene Expression Regulation | Receptors, IgG - immunology | Monocytes - drug effects | Cell Movement - drug effects | Genetic Diseases, X-Linked - immunology | Leukocytes, Mononuclear - pathology | Phenotype | Immunoglobulins, Intravenous - therapeutic use | Agammaglobulinaemia Tyrosine Kinase | Genetic Diseases, X-Linked - pathology | Protein tyrosine kinase | Physiological aspects | Genetic aspects | Research | Drug therapy | Agammaglobulinemia | Drugs | Regulations | Calcium | Leukemia | Defensive behavior | Immunoglobulin G | Escherichia coli | Centrifugation | Antibodies | Arachidonic acid | Kinases | Blood | Proteins | Respiratory tract | Signal transduction | Microorganisms | Actin | Chelation | Bone marrow | Oxidation | Downstream | Age | Neutropenia | Spleen | Antigens | Immunoglobulins | Immune response | Blood cells | Hypersensitivity | Neutrophils | Immunodeficiency | Gastrointestinal tract | Lymphoid tissue | Lymphatic leukemia | Cell differentiation | Lymphoma | Bruton's tyrosine kinase | Adhesion | Medicine | Inhibitors | Lymphocytes B | Protein kinase | Rheumatoid arthritis | Skin | Mutation | Index Medicus
Journal Article
Proceedings of the National Academy of Sciences of the United States of America, ISSN 0027-8424, 4/2006, Volume 103, Issue 17, pp. 6659 - 6664
Journal Article
Journal of Clinical Immunology, ISSN 0271-9142, 4/2016, Volume 36, Issue 3, pp. 187 - 194
X-linked agammagobulinemia (XLA) is a primary immunodeficiency caused by Bruton’s tyrosine kinase (BTK) gene defect. XLA patients have absent or reduced number... 
Medical Microbiology | north african population | Biomedicine | Immunology | novel mutations | BTK | Infectious Diseases | Internal Medicine | XLA | GENOTYPE-PHENOTYPE CORRELATION | GENE-MUTATIONS | GENOMIC ORGANIZATION | IMMUNOLOGY | IDENTIFICATION | B-CELLS | BRUTONS TYROSINE KINASE | FAMILIES | AGAMMAGLOBULINEMIA XLA | Agammaglobulinemia - immunology | Agammaglobulinemia - genetics | Humans | Child, Preschool | Genetic Diseases, X-Linked - complications | Agammaglobulinemia - diagnosis | Infant | Male | Genetic Counseling | Protein-Tyrosine Kinases - immunology | Protein-Tyrosine Kinases - genetics | Morocco | Adult | Genetic Diseases, X-Linked - genetics | Algeria | Opportunistic Infections - immunology | B-Lymphocytes - pathology | Child | Tunisia | Opportunistic Infections - complications | Gene Expression | Agammaglobulinemia - complications | Genetic Association Studies | Gene Frequency | Opportunistic Infections - genetics | Sequence Analysis, DNA | Genetic Diseases, X-Linked - diagnosis | Opportunistic Infections - diagnosis | Genetic Diseases, X-Linked - immunology | B-Lymphocytes - immunology | Age of Onset | Alleles | Heterozygote | Mutation | Genetic research | Genetic aspects | B cells | Index Medicus | Agammaglobulinemia/diagnosis | Protein-Tyrosine Kinases/genetics | Agammaglobulinemia/complications | Life Sciences | Agammaglobulinemia/genetics | Genetic Diseases, X-Linked/complications | Opportunistic Infections/complications | Biochemistry, Molecular Biology | Agammaglobulinemia/immunology | Genetic Diseases, X-Linked/immunology | B-Lymphocytes/pathology | Genetic Diseases, X-Linked/diagnosis | Opportunistic Infections/diagnosis | B-Lymphocytes/immunology | Protein-Tyrosine Kinases/immunology | Agammaglobulinaemia Tyrosine Kinase | Opportunistic Infections/immunology | Opportunistic Infections/genetics | Genetic Diseases, X-Linked/genetics
Journal Article
Blood, ISSN 0006-4971, 01/2011, Volume 117, Issue 4, pp. 1329 - 1339
Journal Article