mvjrМедицинский вестник Юга РоссииMedical Herald of the South of Russia2219-80752618-7876The Rostov State Medical University10.21886/2219-8075-2023-14-4-35-43mvjr-1803Research ArticleАЛЛЕРГОЛОГИЯ И ИММУНОЛОГИЯALLERGOLOGY AND IMMUNOLOGYОсобенности клинической картины и течения дефицита GATA2, осложнённого генерализованным веррукозом с исходом в миелодиспластический синдром во взрослом возрастеFeatures of the clinical picture and course of GATA2 deficiency complicated by generalized verrucosis with an outcome in myelodysplastic syndrome in adulthoodhttps://orcid.org/0000-0002-0800-5960ФроловЕ. А.FrolovE. A.

Евгений Александрович Фролов – врач аллерголог-иммунолог, младший научный сотрудник отделения Иммунопатологии

Москва

Evgeny A. Frolov – allergist-immunologist, Junior Researcher at the Immunopathology department

Moscow

frolovevgeny@rambler.ruhttps://orcid.org/0009-0009-1842-6521АбдулаеваФ. И.AbdulaevaF. I.

Фатима Ильясовна Абдулаева – врач-ординатор

Москва

Fatima I. Abdulaeva – Resident Physician

Moscow

fati_abd@mail.ruГорностаеваЮ. А.GornostaevaU. A.

Юлия Алексеевна Горностаева – к.м.н., старший научный сотрудник отделения Иммунопатологии

Москва

Yulia A. Gornostaeva – Cand. Sci. (Med.), Senior Researcher at the Immunopathology department

Moscow

ya.gornostaeva@nrcii.ruhttps://orcid.org/0000-0003-1508-0640ЛатышеваТ. В.LatyshevaT. V.

Татьяна Васильевна Латышева – д.м.н., проф., профессор кафедры клинической аллергологии и иммунологии; заведующий отделения интенсивной терапии

Москва

Tatiana V. Latysheva – Professor, Dr. Sci. (Med.), Professor of the department of Clinical Allergology and Immunology; head of the Intensive Care Unit

Moscow

tvlat@mail.ruhttps://orcid.org/0000-0002-1606-205XЛатышеваЕ. А.LatyshevaE. A.

Елена Александровна Латышева – д.м.н., доцент кафедры Клинической иммунологии факультета; заведующий отделения Иммунопатологии

Москва

Elena A. Latysheva – Dr. Sci. (Med.), Associate Professor of the Department of Clinical Immunology; Head of the Immunopathology Department

Moscow

ealat@mail.ruhttps://orcid.org/0000-0002-7139-4882АминоваГ. Э.AminovaG. E.

Гулюмхан Эльвировна Аминова – врач-рентгенолог, заведующий отделением лучевой диагностики

Москва

Gulyumkhan E. Aminova – radiologist, head of the radiologydepartment

Moscow

79263037827@yandex.ruГосударственный научный центр «Институт иммунологии» Федерального медико-биологического агентстваРоссияNational Research Center – Institute of Immunology Federal Medical-Biological AgencyRussian FederationРоссийский национальный исследовательский медицинский университет им. Н.И. ПироговаРоссияPirogov Russian National Research Medical UniversityRussian FederationГосударственный научный центр «Институт иммунологии» Федерального медико-биологического агентства; Московский государственный медико-стоматологический университет имени А.И. ЕвдокимоваРоссияNational Research Center – Institute of Immunology Federal Medical-Biological Agency; A.I. Yevdokimov Moscow State University of Medicine and DentistryRussian FederationГосударственный научный центр «Институт иммунологии» Федерального медико-биологического агентства; Российский национальный исследовательский медицинский университет им. Н.И. ПироговаРоссияNational Research Center – Institute of Immunology Federal Medical-Biological Agency; Pirogov Russian National Research Medical UniversityRussian Federation2023261120231443543Copyright © Фролов Е.А., Абдулаева Ф.И., Горностаева Ю.А., Латышева Т.В., Латышева Е.А., Аминова Г.Э., 20232023Фролов Е.А., Абдулаева Ф.И., Горностаева Ю.А., Латышева Т.В., Латышева Е.А., Аминова Г.Э.Frolov E.A., Abdulaeva F.I., Gornostaeva U.A., Latysheva T.V., Latysheva E.A., Aminova G.E.Данная работа распространяется под лицензией Creative Commons Attribution 4.0.This work is licensed under a Creative Commons Attribution 4.0 License.https://www.medicalherald.ru/jour/article/view/1803

Дефицит GATA2 – редкое заболевание, относящееся к группе врождённых дефектов фагоцитов, которое клинически проявляется четырьмя синдромами: синдромом MonoMAC (миедисплазия и иммунодефицит, ассоциированный с развитием инфекций, вызванных Mycobacterium avium complex), синдромом дефицита моноцитов, дендритных клеток, В- и NK-лимфоцитов, синдромом Эмбергера, включающим первичную лимфедему с миелодисплазией и нейросенсорную потерю слуха, а также семейным миелодиспластическим синдромом и острым миелоидным лейкозом. Заболевание наследуется по аутосомно-доминантному типу, но в большинстве случаев мутации зародышевой линии гена GATA2 возникают de novo. Первые проявления заболевания встречаются в раннем взрослом возрасте, течение дефицита GATA2 является вариабельным и может различаться у лиц в одной семье, имеющих схожие генетические варианты. В статье представлен клинический случай манифестации дефицита GATA2 в возрасте семи лет в виде развития генерализованного веррукоза, лимфостаза нижней конечности, генерализованного туберкулёза с поражением брюшной полости, малого таза, органов грудной клетки. В результате обследования выявлен дефицит моноцитов, В- и NK-лимфоцитов, миелодиспластический синдром с мультилинейной дисплазией. Представлено подробное описание клинической картины и особенностей течения первичного иммунодефицитного состояния, результаты проведенного обследования и лечения.

GATA2 deficiency is a rare disease belonging to the group of phagocyte birth defects, which is clinically manifested by four syndromes: MonoMac syndrome (myedysplasia and immunodeficiency associated with the development of infections caused by Mycobacterium avium complex); monocyte, dendritic cell, B- and NK-lymphocyte deficiency syndrome; Emberger syndrome, including primary lymphedema with myelodysplasia and sensorineural hearing loss, as well as familial myelodysplastic syndrome and acute myeloid leukemia. The disease is inherited by autosomal dominant type, but in most cases, mutations ofthe germ line of the GATA2 gene occur de novo. The first manifestations of the disease occur in early adulthood, the course of GATA2 deficiency is variable and may differ in individuals in the same family with similar genetic variants. The article presents a clinical case of manifestation of GATA2 deficiency at the age of seven years in the form of development of generalized verrucosis, lymphostasis of the lower limb, generalized tuberculosis with involvement of the abdominal cavity, small pelvis, and chest organs. The examination revealed deficiency of monocytes, B- and NK-lymphocytes, myelodysplastic syndrome with multilineage dysplasia. We present a detailed description of the clinical picture and peculiarities of the course of the primary immunodeficiency state, the results of the examination and treatment.

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The authors declare that there are no conflicts of interest present.