WHIM syndrome caused by a single amino acid substitution in the carboxy-tail of chemokine receptor CXCR4

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 CXCR...

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Hlavní autoři: 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.
Médium: Artigo
Jazyk:Inglês
Vydáno: American Society of Hematology 2012
Témata:
Phagocytes, Granulocytes, and Myelopoiesis
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC3390956/
https://ncbi.nlm.nih.gov/pubmed/22596258
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1182/blood-2011-12-395608
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