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

共 78 条

[11] β-arrestin differentially regulates the chemokine receptor CXCR4-mediated signaling and receptor internalization, and this implicates multiple interaction sites between β-arrestin and CXCR4 [J].

Cheng, ZJ ;

Zhao, J ;

Sun, Y ;

Hu, W ;

Wu, YL ;

Cen, B ;

Wu, GX ;

Pei, G .

JOURNAL OF BIOLOGICAL CHEMISTRY, 2000, 275 (04) :2479-2485

[12] A Pivotal Role for CXCL12 Signaling in HPV-Mediated Transformation of Keratinocytes: Clues to Understanding HPV-Pathogenesis in WHIM Syndrome [J].

Chow, Ken Y. C. ;

Brotin, Emilie ;

Ben Khalifa, Youcef ;

Carthagena, Laetitia ;

Teissier, Sebastien ;

Danckaert, Anne ;

Galzi, Jean-Luc ;

Arenzana-Seisdedos, Fernando ;

Thierry, Francoise ;

Bachelerie, Francoise .

CELL HOST & MICROBE, 2010, 8 (06) :523-533

[13] WHIM syndrome and oral squamous cell carcinoma [J].

Cipriani, Nicole A. ;

Blair, Elizabeth ;

Taxy, Jerome B. .

ORAL SURGERY ORAL MEDICINE ORAL PATHOLOGY ORAL RADIOLOGY AND ENDODONTOLOGY, 2010, 109 (01) :105-108

[14] Description and outcome of a cohort of 8 patients with WHIM syndrome from the French Severe Chronic Neutropenia Registry [J].

Cohen, Sarah Beaussant ;

Fenneteau, Odile ;

Plouvier, Emmanuel ;

Rohrlich, Pierre-Simon ;

Daltroff, Gerard ;

Plantier, Isabelle ;

Dupuy, Alain ;

Kerob, Delphine ;

Beaupain, Blandine ;

Bordigoni, Pierre ;

Fouyssac, Fanny ;

Delezoide, Anne-Lise ;

Devouassoux, Gilles ;

Nicolas, Jean Francois ;

Bensaid, Philippe ;

Bertrand, Yves ;

Balabanian, Karl ;

Chantelot, Christine Bellanne ;

Bachelerie, Francoise ;

Donadieu, Jean .

ORPHANET JOURNAL OF RARE DISEASES, 2012, 7

[15] The CXCR4 antagonist plerixafor is a potential therapy for myelokathexis, WHIM syndrome [J].

Dale, David C. ;

Bolyard, Audrey Anna ;

Kelley, Merideth L. ;

Westrup, Ernest C. ;

Makaryan, Vahagn ;

Aprikyan, Andrew ;

Wood, Brent ;

Hsu, Frank J. .

BLOOD, 2011, 118 (18) :4963-4966

[16] Dual Roles for Rac2 in Neutrophil Motility and Active Retention in Zebrafish Hematopoietic Tissue [J].

Deng, Qing ;

Yoo, Sa Kan ;

Cavnar, Peter J. ;

Green, Julie M. ;

Huttenlocher, Anna .

DEVELOPMENTAL CELL, 2011, 21 (04) :735-745

[17] CXCR4 mutations in WHIM syndrome: a misguided immune system? [J].

Diaz, GA .

IMMUNOLOGICAL REVIEWS, 2005, 203 :235-243

[18] WHIM syndrome: A defect in CXCR4 signaling [J].

Diaz, GA ;

Gulino, AV .

CURRENT ALLERGY AND ASTHMA REPORTS, 2005, 5 (05) :350-355

[19] Phase III Prospective Randomized Double-Blind Placebo-Controlled Trial of Plerixafor Plus Granulocyte Colony-Stimulating Factor Compared With Placebo Plus Granulocyte Colony-Stimulating Factor for Autologous Stem-Cell Mobilization and Transplantation for Patients With Non-Hodgkin's Lymphoma [J].

DiPersio, John F. ;

Micallef, Ivana N. ;

Stiff, Patrick J. ;

Bolwell, Brian J. ;

Maziarz, Richard T. ;

Jacobsen, Eric ;

Nademanee, Auayporn ;

McCarty, John ;

Bridger, Gary ;

Calandra, Gary .

JOURNAL OF CLINICAL ONCOLOGY, 2009, 27 (28) :4767-4773

[20] Two cases of disseminated Mycobacterium avium infection associated with a new immunodeficiency syndrome related to CXCR4 dysfunctions [J].

Doncker, A-V. ;

Balabanian, K. ;

Bellanne-Chantelot, C. ;

de Guibert, S. ;

Revest, M. ;

Bachelerie, F. ;

Lamy, T. .

CLINICAL MICROBIOLOGY AND INFECTION, 2011, 17 (02) :135-139

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