Genetics on a WHIM

被引：37

作者：

Al Ustwani, Omar ^{[1
]}

Kurzrock, Razelle ^{[2
]}

Wetzler, Meir ^{[1
]}

机构：

[1] Roswell Pk Canc Inst, Dept Med, Leukemia Sect, Buffalo, NY 14263 USA

[2] Univ Calif San Diego, Moores Canc Ctr, San Diego, CA 92103 USA

来源：

BRITISH JOURNAL OF HAEMATOLOGY | 2014年 / 164卷 / 01期

关键词：

CXCR4; myelokathexis; neutropenia; plerixafor; WHIM; CHEMOKINE RECEPTOR CXCR4; COLONY-STIMULATING FACTOR; IMMUNODEFICIENCY SYNDROME; ANTAGONIST PLERIXAFOR; NEUTROPHIL MOTILITY; BETA-ARRESTIN; PIVOTAL ROLE; MYELOKATHEXIS; HYPOGAMMAGLOBULINEMIA; INFECTIONS;

D O I：

10.1111/bjh.12574

中图分类号：

R5 [内科学];

学科分类号：

1002 ; 100201 ;

摘要：

We initially described the WHIM syndrome based on the combination of Warts, Hypogammaglobulinaemia, Infections and Myelokathexis (neutrophil retention in the bone marrow). Translational research led to the discovery that this rare immunodeficiency disease is caused by a heterozygous mutation in the CXCR4 gene. Recently, Plerixafor has been suggested as a treatment for WHIM syndrome due to its efficacy as a CXCR4 antagonist, closing the translational research loop. In this review, we will focus on the clinical manifestations, pathophysiology, diagnosis and possible therapies for this rare entity.

引用

页码：15 / 23

页数：9

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