ISSN (print) 1997-6933     ISSN (online) 2500-2139
Vol. 16 No. 1 (2023), RARE HEMATOLOGICAL TUMORS AND SYNDROMES
Vol. 16 No. 1 (2023)
RARE HEMATOLOGICAL TUMORS AND SYNDROMES

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

Published 20.02.2024
Mariya Viktorovna Marchenko
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
Yu.N. Kuznetsov
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
A.V. Lapina
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
I.A. Mikhailova
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
T.A. Bykova
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
T.S. Shchegoleva
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
V.V. Baikov
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
A.D. 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
2023-1
PDF_2023-16-1_14-26 (Russian)

Keywords

WHIM syndrome
CXCR4
warts
hypogammaglobulinemia
infections
myelokathexis

How to Cite

Marchenko M.V., Kuznetsov Y.N., Lapina A.V., Mikhailova I.A., Bykova T.A., Shchegoleva T.S., Baikov V.V., Kulagin A.D. WHIM Syndrome: A Literature Review and a Report of Two Cases in One Family. Clinical Oncohematology. 2024;(1):14–26. doi:10.21320/2500-2139-2023-16-1-14-26.
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Keywords

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.

PDF_2023-16-1_14-26 (Russian)

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