Russian Journal of AllergyRussian Journal of AllergyРоссийский Аллергологический Журнал1810-88302686-682XPublishing House ABV Press1699210.36691/RJA16992Case reportsКлинические случаиResearch ArticleVasculitis with nervous system damage in a patient with adenosine deaminase 2 deficiencyВаскулит c поражением нервной системы у пациента с дефицитом аденозиндезаминазы 2https://orcid.org/0000-0001-7247-545X1538-3632GolovinaOksana A.ГоловинаОксана Андреевна
Russian Federation
ksan7ch@mail.ruhttps://orcid.org/0000-0001-5132-12677249-4423RoppeltAnna A.РоппельтАнна Артуровна
Russian Federation

MD, Cand. Sci. (Medicine)

канд. мед. наук

roppelt_anna@mail.ruhttps://orcid.org/0000-0002-6646-42336424-0012MarkinaUlyana A.МаркинаУльяна Алеексеевна
Russian Federation
itcher.md@bk.ruhttps://orcid.org/0000-0001-5809-60153943-7930MutovinaZinaida Yu.МутовинаЗинаида Юрьевна
Russian Federation

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

канд. мед. наук, доцент

zmutovina@mail.ruhttps://orcid.org/0009-0004-5466-69486318-3532ShishimorovAleksey A.ШишиморовАлексей Андреевич
Russian Federation
gkb52@zdrav.mos.ruhttps://orcid.org/0009-0000-3179-20887776-1024SchukinKonstantin A.ЩукинКонстантин Алексеевич
Russian Federation
k_schukin@mail.ruhttps://orcid.org/0000-0002-1930-54244122-5565KaraulovAlexander V.КарауловАлександр Викторович
Russian Federation

MD, Dr. Sci. (Med.), Professor, academician of the Russian Academy of Sciences

д-р мед. наук, профессор, академик РАН

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

MD, Dr. Sci. (Medicine), Professor

д-р мед. наук, профессор

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

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

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)LIFT Center«ЛИФТ» ЦентрThe Russian National Research Medical University named after N.I. PirogovРоссийский национальный исследовательский медицинский университет имени Н.И. ПироговаAstana Medical UniversityМедицинский университет Астана07042025030620252222172251301202526032025Copyright ©; 2025, ABV-pressCopyright ©; 2025, ИД "АБВ-пресс"2025ABV-pressИД "АБВ-пресс"https://creativecommons.org/licenses/by-nc-nd/4.0/https://rusalljournal.ru/raj/article/view/16992

Deficiency of adenosine deaminase 2 is a rare monogenic disease, inherited in an autosomal recessive manner and caused by a loss-of-function mutation in the ADA2 gene. The disease is manifested by systemic vasculitis, deficiency of bone marrow failure, and/or immunodeficiency. According to international classification of inborn errors of immunity, deficiency of adenosine deaminase 2 is considered to be an autoinflammatory syndrome. Most often, the disease debuts before the age of 18, however, debuts at an older age have been reported. Due to nonspecificity of the symptoms, the correct diagnosis can be quite late, and patients can end up consulting a number of specialists besides a pediatrician or an immunologist. A delay in diagnosis, in turn, delays the start of therapy of the underlying disease, which determines the prognosis of the disease, and affects patients’ quality of life.

In this article, we present a literature review on deficiency of adenosine deaminase 2 and a clinical case with a prevailing clinical picture of vasculitis with nervous system damage, which demonstrates the importance of timely diagnosis and the relevance of knowledge of the disease by doctors of different specialties.

Дефицит аденозиндезаминазы 2-го типа является редким моногенным аутосомно-рецессивным заболеванием, вызванным мутацией с потерей функции в гене аденозиндезаминазы 2-го типа, проявляющимся системным васкулитом, недостаточностью костномозгового кроветворения и/или иммунодефицитом. Cогласно международной классификации врожденных дефектов иммунитета (или первичных иммунодефицитов) заболевание отнесено к группе аутовоспалительных синдромов. Дефицит аденозиндезаминазы 2-го типа дебютирует, как правило, до 18 лет, однако описаны случаи дебюта в более старшем возрасте. Из-за неспецифичности симптомов зачастую постановка верного диагноза запаздывает и пациенты могут оказаться на приеме у специалистов разного профиля, не только врача-педиатра или иммунолога. Задержка диагноза, в свою очередь, ведет к задержке патогенетического лечения, что определяет прогноз заболевания и качество жизни пациента.

В статье приведены обзор литературы по дефициту аденозиндезаминазы 2-го типа и описание случая с превалирующей клинической картиной васкулита с поражением нервной системы. На фоне инициированной патогенетический терапии адалимумабом достигнуты купирование признаков васкулита, нормализация уровня воспалительных маркеров, отсутствие прогрессирования полинейропатии и эпизодов лихорадок. Данный случай демонстрирует важность своевременной постановки диагноза и актуальность знаний врачей различных специальностей о таком редком заболевании.

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