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Vasculitis with nervous system damage in a patient with adenosine deaminase 2 deficiency.
- Authors: Roppelt A.A.1,2, Golovina O.A.3, Markina U.A.1, Mutovina Z.Y.3, Shishimorov A.A.3, Schukin K.A.4, Karaulov A.V.5,6, Lysenko M.A.3,7, Fomina D.S.8,5,9
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Affiliations:
- the Center of Allergy and Immunology Clinical City hospital 52 Ministry of Healthcare of Moscow
- Dmitry Rogachev National Medical Research Center of Pediatric Hematology, Oncology and Immunology, Moscow, Russia
- Moscow City Hospital 52
- Московский городской научно-практический центр аллергологии и иммунологии ГБУЗ «Городская клиническая больница № 52
- The First Sechenov Moscow State Medical University (Sechenov University)
- Life Improvement by Future Technologies (LIFT) Center
- The Russian National Research Medical University named after N.I. Pirogov
- Center of Allergy and Immunology Clinical Moscow City Hospital 52
- Astana Medical University
- Section: Case reports
- Submitted: 13.01.2025
- Accepted: 26.03.2025
- Published: 07.04.2025
- URL: https://rusalljournal.ru/raj/article/view/16992
- DOI: https://doi.org/10.36691/RJA16992
- ID: 16992
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Abstract
Deficiency of adenosine deaminase 2 (DADA2) is a rare monogenic disease, inherited in an autosomal recessive manner, which is caused by a loss-of-function mutation in the ADA2 gene. The disease is manifested by systemic vasculitis, deficiency of medullary hematopoiesis, and/or immunodeficiency. According to international classification of primary immunodeficiencies, DADA2 is considered to be an autoimmflamotary 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 before seeing a pediatrician or an immunologist. A delay in diagnosis, in turn, delays the start of pathogenic therapy, which determines the prognosis of the disease, and affects patients` quality of life. In this article, we present a literature review on DADA2 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.
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About the authors
Anna A. Roppelt
the Center of Allergy and Immunology Clinical City hospital 52 Ministry of Healthcare of Moscow; Dmitry Rogachev National Medical Research Center of Pediatric Hematology, Oncology and Immunology, Moscow, Russia
Author for correspondence.
Email: roppelt_anna@mail.ru
ORCID iD: 0000-0001-5132-1267
SPIN-code: 7249-4423
Allergist-immunologist
Россия, 3 Pekhotnaya str., 123182 Moscow, Russia;Oksana A. Golovina
Moscow City Hospital 52
Email: ksan7ch@mail.ru
ORCID iD: 0000-0001-7247-545X
SPIN-code: 1538-3632
врач-ревматолог
3 Pekhotnaya str., 123182 Moscow, Russia;Ulyana A. Markina
the Center of Allergy and Immunology Clinical City hospital 52 Ministry of Healthcare of Moscow
Email: itcher.md@bk.ru
ORCID iD: 0000-0002-6646-4233
SPIN-code: 6424-0012
врач аллерголог-иммунолог
3 Pekhotnaya str., 123182 Moscow, Russia;Zinaida Y. Mutovina
Moscow City Hospital 52
Email: zmutovina@mail.ru
ORCID iD: 0000-0001-5809-6015
врач-ревматолог, к.м.н., доцент
3 Pekhotnaya str., 123182 Moscow, Russia;Alexey A. Shishimorov
Moscow City Hospital 52
Email: gkb52@zdrav.mos.ru
ORCID iD: 0009-0004-5466-6948
SPIN-code: 6318-3532
radiologist
3 Pekhotnaya str., 123182 Moscow, Russia;Konstantin A. Schukin
Московский городской научно-практический центр аллергологии и иммунологии ГБУЗ «Городская клиническая больница № 52
Email: k_schukin@mail.ru
ORCID iD: 0009-0000-3179-2088
3 Pekhotnaya str., 123182 Moscow, Russia;
Alexander V. Karaulov
The First Sechenov Moscow State Medical University (Sechenov University); Life Improvement by Future Technologies (LIFT) Center
Email: drkaraulov@mail.ru
ORCID iD: 0000-0002-1930-5424
SPIN-code: 4122-5565
MD, Dr. Sci. (Med.), Professor, academician of the Russian Academy of Sciences
Россия, MoscowMariana A. Lysenko
Moscow City Hospital 52; The Russian National Research Medical University named after N.I. Pirogov
Email: gkb52@zdrav.mos.ru
ORCID iD: 0000-0001-6010-7975
SPIN-code: 3887-6250
MD, Dr. Sci. (Med.), Professor
Россия, Moscow; MoscowDaria S. Fomina
Center of Allergy and Immunology Clinical Moscow City Hospital 52; The First Sechenov Moscow State Medical University (Sechenov University); Astana Medical University
Email: daria_fomina@mail.ru
ORCID iD: 0000-0002-5083-6637
SPIN-code: 3023-4538
MD, Cand. Sci. (Med.), Associate Professor
Россия, Moscow; Moscow; AstanaReferences
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