Article
Primary B cell immunodeficiencies: comparisons and contrasts.
Annual review of immunology - 1 Jan 2009
Conley Mary Ellen, Dobbs A Kerry, Farmer Dana M, Kilic Sebnem, Paris Kenneth, Grigoriadou Sofia, Coustan-Smith Elaine, Howard Vanessa, Campana Dario
Abstract excerpt
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 (lambda5, Igalpha, Igbeta), 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...
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