Pediatric Hematology/Oncology and Immunopathology

Вопросы гематологии/онкологии и иммунопатологии в педиатрии

1726-17082414-9314

Fund Doctors, Innovations, Science for Children

448

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

MATERIALS OF THE 3rd WORKING MEETING OF ALLERGISTS-IMMUNOLOGISTS

МАТЕРИАЛЫ III РАБОЧЕГО СОВЕЩАНИЯ АЛЛЕРГОЛОГОВ-ИММУНОЛОГОВ

Characteristics of a group of patients with WHIM syndrome

Характеристика группы пациентов с WHIM-синдромом

https://orcid.org/0000-0002-8208-2075

Deordieva

E. A.

Деордиева

Е. А.

Russian Federation

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

1 Samory Mashela St., Moscow 117997, Russia

канд. мед. наук, врач-аллергологиммунолог консультативного отделения

117997, Москва, ул. Саморы Машела, 1

deor2005@yandex.ru

https://orcid.org/0000-0001-5347-7150

Shvets

O. A.

Швец

О. А.

Russian Federation

1 Samory Mashela St., Moscow 117997, Russia

117997, Москва, ул. Саморы Машела, 1

https://orcid.org/0000-0002-2354-2588

Laberko

A. L.

Лаберко

А. Л.

Russian Federation

1 Samory Mashela St., Moscow 117997, Russia

117997, Москва, ул. Саморы Машела, 1

https://orcid.org/0000-0001-9078-8206

Yukhacheva

D. V.

Юхачева

Д. В.

Russian Federation

1 Samory Mashela St., Moscow 117997, Russia

117997, Москва, ул. Саморы Машела, 1

https://orcid.org/0000-0001-6271-7435

Konyukhova

T. V.

Конюхова

Т. В.

Russian Federation

1 Samory Mashela St., Moscow 117997, Russia

117997, Москва, ул. Саморы Машела, 1

https://orcid.org/0000-0002-4503-0735

Plyasunova

S. A.

Плясунова

С. А.

Russian Federation

1 Samory Mashela St., Moscow 117997, Russia

117997, Москва, ул. Саморы Машела, 1

https://orcid.org/0000-0002-7634-2053

Raykina

E. V.

Райкина

Е. В.

Russian Federation

1 Samory Mashela St., Moscow 117997, Russia

117997, Москва, ул. Саморы Машела, 1

https://orcid.org/0000-0001-7578-9657

Voronin

K. A.

Воронин

К. А.

Russian Federation

117997, Москва, ул. Саморы Машела, 1

https://orcid.org/0000-0001-9857-4456

Rodinа

Yu. A.

Родина

Ю. А.

Russian Federation

1 Samory Mashela St., Moscow 117997, Russia

117997, Москва, ул. Саморы Машела, 1

https://orcid.org/0000-0002-2322-5734

Novichkova

G. A.

Новичкова

Г. А.

Russian Federation

1 Samory Mashela St., Moscow 117997, Russia

117997, Москва, ул. Саморы Машела, 1

https://orcid.org/0000-0002-3113-4939

Shcherbina

A. Yu.

Щербина

А. Ю.

Russian Federation

1 Samory Mashela St., Moscow 117997, Russia

117997, Москва, ул. Саморы Машела, 1

Dmitry Rogachev National Medical Research Center of Pediatric Hematology, Oncology and Immunology, Ministry of Healthcare of the Russian FederationФГБУ «Национальный медицинский исследовательский центр детской гематологии, онкологии и иммунологии им. Дмитрия Рогачева» Минздрава России

11012021

194

supplement

приложение

68750901202109012021

2021

«D. Rogachev NMRCPHOI»

ФГБУ «НМИЦ ДГОИ им. Дмитрия Рогачева» Минздрава России

https://creativecommons.org/licenses/by/4.0

https://hemoncim.com/jour/article/view/448

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.

WHIM-синдром – это редкое комбинированное первичное иммунодефицитное состояние, симптомокомплекс которого отражен в названии: бородавки (warts), гипогаммаглобулинемия (hypogammaglobulinemia), инфекции (infections) и миелокатексис (myelokathexis). В данной статье впервые в России представлена клинико-лабораторная характеристика 10 пациентов с WHIMсиндромом, наблюдающихся в ФГБУ «НМИЦ ДГОИ им. Дмитрия Рогачева» Минздрава России. Исследование одобрено локальным этическим комитетом и утверждено решением ученого совета НМИЦ ДГОИ им. Дмитрия Рогачева. У всех 10 пациентов были выявлены нейтропения и лимфопения, однако гипогаммаглобулинемия отмечена лишь у 7/10 больных. У всех пациентов при исследовании костного мозга отмечались типичные признаки миелокатексиса (вакуолизация цитоплазмы нейтрофилов и эозинофилов, пикнотически измененные ядра, длинные тонкие хроматиновые перемычки между сегментами, гипогранулярность, гиперсегментация). Все пациенты получали терапию препаратами гранулоцитарного колониестимулирующего фактора и внутривенных иммуноглобулинов, однако развившиеся инфекционные и цитопенические осложнения послужили поводом для проведения трансплантации гемопоэтических стволовых клеток у 3/10 пациентов, у 2 больных она прошла успешно и привела к разрешению всех симптомов заболевания. При ведении пациентов с ранним дебютом лимфо- и нейтропении в сочетании с морфологическими признаками миелокатексиса в костном мозге необходимо исключать WHIM-синдром. Лечение данного заболевания остается нерешенной проблемой и требует дальнейшего изучения.

WHIM syndromeCXCR4myelocatexiswartscongenital neutropenialymphopeniahypogammaglobulinemiagranulocyte colony-stimulating factorintravenous immunoglobulin

WHIM-синдромCXCR4миелокатексисбородавкиврожденная нейтропениялимфопениягипогаммаглобулинемиягранулоцитарный колониестимулирующий факторвнутривенные иммуноглобулины

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