Characteristics of a group of patients with WHIM syndrome

E. A. Deordieva; Деордиева Е. А.; O. A. Shvets; Швец О. А.; A. L. Laberko; Лаберко А. Л.; D. V. Yukhacheva; Юхачева Д. В.; T. V. Konyukhova; Конюхова Т. В.; S. A. Plyasunova; Плясунова С. А.; E. V. Raykina; Райкина Е. В.; K. A. Voronin; Воронин К. А.; Yu. A. Rodinа; Родина Ю. А.; G. A. Novichkova; Новичкова Г. А.; A. Yu. Shcherbina; Щербина А. Ю.

doi:10.24287/1726-1708-2020-19-4suppl-68-75

Characteristics of a group of patients with WHIM syndrome

Authors: Deordieva E.A.¹, Shvets O.A.¹, Laberko A.L.¹, Yukhacheva D.V.¹, Konyukhova T.V.¹, Plyasunova S.A.¹, Raykina E.V.¹, Voronin K.A.¹, Rodinа Y.A.¹, Novichkova G.A.¹, Shcherbina A.Y.¹
Affiliations:
1. Dmitry Rogachev National Medical Research Center of Pediatric Hematology, Oncology and Immunology, Ministry of Healthcare of the Russian Federation
Issue: Vol 19, No 4 (2020): supplement
Pages: 68-75
Section: MATERIALS OF THE 3rd WORKING MEETING OF ALLERGISTS-IMMUNOLOGISTS
Submitted: 09.01.2021
Accepted: 09.01.2021
Published: 09.01.2021
URL: https://hemoncim.com/jour/article/view/448
DOI: https://doi.org/10.24287/1726-1708-2020-19-4suppl-68-75
ID: 448

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Abstract

WHIM syndrome (warts, hypogammaglobulinemia, infections, myelokathexis) is a rare combined primary immunodeficiency. Here we describe 10 Russian patients with WHIM syndrome that were followed in the Dmitry Rogachev National Medical Research Center оf Pediatric Hematology, Oncology and Immunology. This study is supported by the Independent Ethics Committee and approved by the Academic Council of the Dmitry Rogachev National Medical Research Center of Pediatric Hematology, Oncology and Immunology. Neutropenia and lymphopenia were observed in all 10 patients, hypogammaglobulinemia – in 7/10 patients. In all cases bone marrow analysis demonstrated myelokathexis features (cytoplasmic vacuolization in neutrophils and eosinophils, hyperlobulated pyknotic nuclear lobes connected by long thin strands, hypogranular and hypersegmented neutrophils). All patients were treated with granulocyte colony-stimulating factor and intravenous immunoglobulin. In 3/10 poor disease control was an indication to perform HSCT. In 2 of 3 patients HSTC was successful and all symptoms of the disease resolved. In conclusion, the diagnosis of WHIM syndrome must be considered in patients with early onset of neutro- and lymphopenia in conjunction with morphological features of myelokathexis. Treatment of this disease is still a challenging problem.

Keywords

WHIM syndrome, CXCR4, myelocatexis, warts, congenital neutropenia, lymphopenia, hypogammaglobulinemia, granulocyte colony-stimulating factor, intravenous immunoglobulin

About the authors

E. A. Deordieva

Dmitry Rogachev National Medical Research Center of Pediatric Hematology, Oncology and Immunology, Ministry of Healthcare of the Russian Federation

Author for correspondence.
Email: deor2005@yandex.ru
ORCID iD: 0000-0002-8208-2075

Cand. Med. Sci., an allergist-immunologist at the Outpatient Department

1 Samory Mashela St., Moscow 117997, Russia

Russian Federation

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