WHIM Syndrome: A Literature Review and a Report of Two Cases in One Family

AUTOIMMUNE THROMBOCYTOPENIA

MV Marchenko, YuN Kuznetsov, AV Lapina, IA Mikhailova, TA Bykova, TS Shchegoleva, VV Baikov, AD Kulagin

RM Gorbacheva Scientific Research Institute of Pediatric Oncology, Hematology and Transplantation; IP Pavlov First Saint Petersburg State Medical University, 6/8 L’va Tolstogo ul., Saint Petersburg, Russian Federation, 197022

For correspondence: Mariya Viktorovna Marchenko, 6/8 L’va Tolstogo ul., Saint Petersburg, Russian Federation, 197022; Tel.: +7(812)338-62-65; e-mail: mv_bogomolova@mail.ru

For citation: Marchenko MV, Kuznetsov YuN, Lapina AV, et al. WHIM Syndrome: A Literature Review and a Report of Two Cases in One Family. Clinical oncohematology. 2023;16(1):14–26. (In Russ).

DOI: 10.21320/2500-2139-2023-16-1-14-26

ABSTRACT

WHIM syndrome (warts, hypogammaglobulinemia, infections, and myelokathexis) is a rare genetic disease associated with activating germline mutations in the gene encoding chemokine receptor CXCR4. WHIM syndrome is manifested by neutropenia, lymphopenia, infections, and degenerative changes of mature neutrophils with bone marrow myeloid hyperplasia (myelokathexis). Some patients show hypogammaglobulinemia, persistent cutaneous, genital, or elsewhere localized warts. There are also cases of congenital heart defects. The present paper extensively analyzes genetic basis, pathophysiology, clinical manifestations, and diagnosis of WHIM syndrome as well as its treatment options. The paper reports two cases in one family.

Keywords: WHIM syndrome, CXCR4, warts, hypogammaglobulinemia, infections, myelokathexis.

Received: August 30, 2022

Accepted: December 2, 2022

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Статистика Plumx английский

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