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Article

WHIM Syndrome Caused by Waldenström's Macroglobulinemia-Associated Mutation CXCR4 (L329fs).

Journal of clinical immunology - 1 May 2016

Liu Qian, Pan Catherina, Lopez Lizbeeth, Gao Jiliang, Velez Daniel, Anaya-O'Brien Sandra, Ulrick Jean, Littel Patricia, Corns John S, Ellenburg Donald T, Malech Harry L, Murphy Philip M, McDermott David H

Abstract excerpt

WHIM syndrome is an autosomal dominant immunodeficiency disease caused by mutations affecting the carboxy-terminus of CXCR4. To characterize novel genetic causes of the syndrome, we recruited a pediatric patient with possible WHIM syndrome, performed CXCR4 gene sequencing and compared his clinical phenotype and CXCR4 tail amino acid sequences with other patients with WHIM syndrome carrying CXCR4 (R334X)...

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Source

Identifiers

PMID: 27059040
DOI: 10.1007/s10875-016-0276-3

Genes

CXCR4
CXCL12

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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WHIM Syndrome Caused by Waldenström's Macroglobulinemia-Associated Mutation CXCR4 (L329fs).PMID 27059040Read ↗

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