Primary B cell immunodeficiencies: comparisons and contrasts
| Autor: | Conley, Mary, Dobbs, Kerry, Farmer, Dana, Paris, Kenneth, Grigoriadou, Sofia, Coustan-Smith, Elaine, Howard, Vanessa, Campana, Dario |
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| Přispěvatelé: | Uludağ Üniversitesi/ Tıp Fakültesi/ Pediatri Anabilim Dalı., Kılı., Sara Şebnem |
| Jazyk: | angličtina |
| Rok vydání: | 2009 |
| Předmět: |
Amino acid substitution
Bone marrow cell Disease gene sh2d1a Major histocompatibility complex B lymphocyte receptor Immune deficiency Antigens CD79 Autoimmunity Review Bruton tyrosine kinase Antibody-deficiency syndrome CD40 antigen Genetic heterogeneity Opportunistic infection Agammaglobulinemia Immunoglobulin A deficiency Pre B lymphocyte Symptomatology Scaffold protein Priority journal B-Lymphocytes Adaptor proteins signal transducing Antigens differentiation T-Lymphocyte Protein-tyrosine kinases Cellular immunity Immunologic deficiency syndromes Amino acid Bruton Tyrosine Kinase Bruton Type Agammaglobulinemia Ibrutinib Btk CD79b antigen Hyper IgM syndrome CD27 antigen Dysgammaglobulinemia CD40 ligand Human Precursor cells B-Lymphoid Neutropenia X-linked agammaglobulinemia Antigens CD19 Immunology X linked agammaglobulinemia Patient care Beta 2 microglobulin Common variable immunodeficiency Sepsis Autosomal recessive form Immunoglobulin Animals Humans Genotype phenotype correlation Meningitis Gene mutation Empyema Hyper-igm syndrome lymphocyte activation Autosomal recessive disorder B lymphocyte TACI CD19 antigen Pneumonia Transmembrane activator and CAML interactor protein Immunoglobulin E Nonhuman Induced cytidine deaminase Environmental factor Immunoglobulin A Immunoglobulin M Immunoglobulin G Immunoglobulin G1 Brutons tyrosine kinase Mutation Genetic association Transmembrane activator and CAML interactor Genetic variability Cell maturation Class-switch recombination Macroglobulin |
| Popis: | Sophisticated genetic tools have made possible the identification of the genes responsible for most well-described immunodeficiencies in the past 15 years. Mutations in Btk, components of the pre-B cell and B cell receptor (lambda 5, Ig alpha, Ig beta), or the scaffold protein BLNK account for approximately 90% of patients with defects in early B cell development. Hyper-IgM syndromes result from mutations in CD40 ligand, CD40, AID, or UNG in 70-80% of affected patients. Rare defects in ICOS or CD 19 can result in a clinical picture that is consistent with common variable immunodeficiency, and as many as 10% of patients with this disorder have hetetozygous amino acid substitutions in TACI. For all these disorders, there is considerable clinical heterogeneity in patients with the same mutation. Identifying the genetic and environmental factors that influence the clinical phenotype may enhance patient care and our understanding of normal B cell development. United States Department of Health & Human Services National Institutes of Health (NIH) - USA (AI25129) United States Department of Health & Human Services National Institutes of Health (NIH) - USA NIH National Cancer Institute (NCI) ( P30 CA21765) Federal Express Chair of Excellence United States Department of Health & Human Services National Institutes of Health (NIH) - USA NIH National Cancer Institute (NCI) ( P30CA021765) United States Department of Health & Human Services National Institutes of Health (NIH) - USA NIH National Institute of Allergy & Infectious Diseases (NIAID) ( R56AI025129) United States Department of Health & Human Services National Institutes of Health (NIH) - USA NIH National Institute of Allergy & Infectious Diseases (NIAID) ( R01AI025129) United States Department of Health & Human Services National Institutes of Health (NIH) - USA NIH National Institute of Allergy & Infectious Diseases (NIAID) ( R37AI025129) |
| Databáze: | OpenAIRE |
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