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Journal of Clinical Immunology
Erschienen in:

16.07.2019 | CME Review

WHIM Syndrome: from Pathogenesis Towards Personalized Medicine and Cure

Erschienen in: Journal of Clinical Immunology | Ausgabe 6/2019

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Abstract

WHIM syndrome is a rare combined primary immunodeficiency disease named by acronym for the diagnostic tetrad of warts, hypogammaglobulinemia, infections, and myelokathexis. Myelokathexis is a unique form of non-cyclic severe congenital neutropenia caused by accumulation of mature and degenerating neutrophils in the bone marrow; monocytopenia and lymphopenia, especially B lymphopenia, also commonly occur. WHIM syndrome is usually caused by autosomal dominant mutations in the G protein-coupled chemokine receptor CXCR4 that impair desensitization, resulting in enhanced and prolonged G protein- and β-arrestin-dependent responses. Accordingly, CXCR4 antagonists have shown promise as mechanism-based treatments in phase 1 clinical trials. This review is based on analysis of all 105 published cases of WHIM syndrome and covers current concepts, recent advances, unresolved enigmas and controversies, and promising future research directions.
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Metadaten
Titel
WHIM Syndrome: from Pathogenesis Towards Personalized Medicine and Cure
Publikationsdatum
16.07.2019
Erschienen in
Journal of Clinical Immunology / Ausgabe 6/2019
Print ISSN: 0271-9142
Elektronische ISSN: 1573-2592
DOI
https://doi.org/10.1007/s10875-019-00665-w

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