Primary B cell immunodeficiencies: comparisons and contrasts
Date
2009
Authors
Conley, Mary
Dobbs, Kerry
Farmer, Dana
Paris, Kenneth
Grigoriadou, Sofia
Coustan-Smith, Elaine
Howard, Vanessa
Campana, Dario
Journal Title
Journal ISSN
Volume Title
Publisher
Annual Reviews
Abstract
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.
Description
Keywords
X-linked agammaglobulinemia, Hyper-IgM syndrome, Common variable immunodeficiency, Btk, TACI, Common variable immunodeficiency, X-linked agammaglobulinemia, Brutons tyrosine kinase, Hyper-igm syndrome, Class-switch recombination, Induced cytidine deaminase, Major histocompatibility complex, Antibody-deficiency syndrome, Autosomal recessive form, Disease gene sh2d1a
Citation
Conley, ME. vd.(2009). "Primary B Cell Immunodeficiencies: Comparisons and Contrasts". Annual Review of Immunology, 27, 199-227.