Article
WHIM syndrome caused by a single amino acid substitution in the carboxy-tail of chemokine receptor CXCR4.
Blood - 5 Jul 2012
Liu Qian, Chen Haoqian, Ojode Teresa, Gao Xiangxi, Anaya-O'Brien Sandra, Turner Nicholas A, Ulrick Jean, DeCastro Rosamma, Kelly Corin, Cardones Adela R, Gold Stuart H, Hwang Eugene I, Wechsler Daniel S, Malech Harry L, Murphy Philip M, McDermott David H
Abstract excerpt
WHIM syndrome is a rare, autosomal dominant, immunodeficiency disorder so-named because it is characterized by warts, hypogammaglobulinemia, infections, and myelokathexis (defective neutrophil egress from the BM). Gain-of-function mutations that truncate the C-terminus of the chemokine receptor CXCR4 by 10-19 amino acids cause WHIM syndrome. We have identified a family with autosomal dominant inheritance of WHIM...
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