Russian Journal of AllergyRussian Journal of AllergyРоссийский Аллергологический Журнал1810-88302686-682XPublishing House ABV Press1697310.36691/RJA16973Case reportsКлинические случаиResearch ArticleGATA2 deficiency: a long way to diagnosis (case report)Дефицит GATA2: долгий путь к постановке диагноза (клинический случай)https://orcid.org/0009-0000-0043-5985AvgustovskayaIrina S.АвгустовскаяИрина Сергеевна
Russian Federation

Moscow Center of Allergy and Immunology

Московский городской научно-практический центр аллергологии и иммунологии

is-avgustovskaya@mail.ruhttps://orcid.org/0000-0001-5132-12677249-4423RoppeltAnna A.РоппельтАнна Артуровна
Russian Federation

MD, Cand. Sci. (Medicine)

Московский городской научно-практический центр аллергологии и иммунологии, канд. мед. наук

roppelt_anna@mail.ruhttps://orcid.org/0000-0002-6646-4233MarkinaUlyana A.МаркинаУльяна Алексеевна
Russian Federation

Moscow Center of Allergy and Immunology

Московский городской научно-практический центр аллергологии и иммунологии

itcher.md@bk.ruhttps://orcid.org/0009-0005-1988-1703GogolAnna L.ГогольАнна Леонидовна
Russian Federation
catharsis17@yandex.ruhttps://orcid.org/0000-0002-2266-14975339-8420BeloglazovaIrina P.БелоглазоваИрина Павловна
Russian Federation

MD, Cand. Sci. (Medicine)

канд. мед. наук

beloglazova.irina@gmail.comhttps://orcid.org/0000-0003-1104-44159940-6413KorennayaVera V.КореннаяВера Вячеславовна
Russian Federation

MD, Cand. Sci. (Medicine), Assistant Professor

канд. мед. наук, доцент

drkorennaya@mail.ruhttps://orcid.org/0000-0002-1930-54244122-5565KaraulovAlexander V.КарауловАлександр Викторович
Russian Federation

MD, Dr. Sci. (Medicine), Professor

д-р мед. наук, профессор

drkaraulov@mail.ruhttps://orcid.org/0000-0002-2337-33075028-4695NurtazinaAsel Yu.НуртазинаАсель Юсуповна
Russian Federation

Cand. Sci. (Medicine), Assistant Professor

канд. мед. наук, доцент

asel26nurtazina@mail.ruhttps://orcid.org/0000-0001-6010-79753887-6250LysenkoMaryana A.ЛысенкоМарьяна Анатольевна
Russian Federation

MD, Dr. Sci. (Medicine), Professor

д-р мед. наук, профессор

gkb52@zdrav.mos.ruhttps://orcid.org/0000-0002-5083-66373023-4538FominaDarya S.ФоминаДарья Сергеевна
Russian Federation

Moscow Center of Allergy and Immunology, MD, Cand. Sci. (Medicine), Assistant Professor

Московский городской научно-практический центр аллергологии и иммунологии, канд. мед. наук, доцент

daria_fomina@mail.ruClinical City Hospital No. 52Городская клиническая больница № 52The First Sechenov Moscow State Medical University (Sechenov University)Первый Московский государственный медицинский университет имени И.М. Сеченова (Сеченовский Университет)The Russian National Research Medical University named after N.I. PirogovРоссийский национальный исследовательский медицинский университет имени Н.И. ПироговаRussian Medical Academy of Continuous Professional EducationРоссийская медицинская академия непрерывного профессионального образованияAstana Medical UniversityМедицинский университет Астана20122024281220242145405532809202410122024Copyright ©; 2024, Pharmarus Print MediaCopyright ©; 2024, Фармарус Принт Медиа2024Pharmarus Print MediaФармарус Принт Медиаhttps://rusalljournal.ru/raj/article/view/16973

GATA2 deficiency is a form of inborn errors of immunity (or primary immunodeficiencies) with a wide range of symptoms. According to the international classification of primary immunodeficiency diseases it is classified as congenital defects of phagocyte number, function, or both. Heterozygous mutations in the GATA2 gene cause syndromes reported in the literature as dendritic cell, monocyte, B and NK lymphoid deficiency, MonoMAC syndrome (monocytopenia and mycobacterial infection), familial myelodysplastic syndrome, and Emberger syndrome (the combination of myelodysplasia and congenital lymphedema).

Here we present a literature review on GATA2 deficiency and report a clinical case of an adult woman with the abovementioned immune defect, the results of laboratory and instrumental examinations, therapy, and outcome. The patient’s condition was complicated by lymphedema, myelodysplastic syndrome, endometrial carcinoma in situ, nonspecific pulmonary lesion, recurrent miscarriage, and rheumatic conditions (erythema nodosum). The mentioned diversity of clinical manifestations is a reason for long diagnostic search, as well as difficulties in diagnosis and selection of optimal treatment tactics.

Дефицит фактора GATA2 – одна из форм врожденных дефектов иммунитета (или первичных иммунодефицитных состояний) с широким спектром разнообразных симптомов. Данная патология, согласно международной классификации первичных иммунодефицитных состояний, отнесена к группе с количественным или функциональным дефектом фагоцитов. Гетерозиготные мутации в гене GATA2 являются причиной синдромов, отраженных в научной литературе под такими названиями, как комбинированный вариант с дефицитом дендритных клеток, моноцитов, B-лимфоцитов и натуральных киллеров, синдром MonoMAC (monocytopenia and mycobacterial infections; моноцитопения с инфекцией Mycobacterium avium complex), семейный миелодиспластический синдром и синдром Эмбергера (сочетание миелодиспластического синдрома с врожденной лимфедемой).

В статье представлены описание клинического случая болезни пациентки с данным дефектом иммунитета, диагностированным во взрослом возрасте, а также результаты лабораторных и инструментальных исследований, терапия и исход наблюдения. Заболевание пациентки было осложнено лимфедемой, миелодиспластическим синдромом, карциномой эндометрия in situ, неспецифическим поражением легких, привычным невынашиванием беременности и ревматологическими проявлениями (узловатая эритема). Указанное многообразие клинических проявлений объясняет длительный диагностический поиск, а также затруднения в процессе верификации диагноза и выборе оптимальной тактики лечения.

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