Granulomatous inflammation in the manifestation of chronic granulomatous disease: a clinical case report
- Authors: Yukhacheva D.V.1, Pershin D.E.1, Uskova N.G.1, Tereshchenko G.V.1, Kuzmenko N.B.1
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Affiliations:
- Dmitriy Rogachev National Medical Research Center of Pediatric Hematology, Oncology, Immunology Ministry of Healthcare of Russian Federation
- Issue: Vol 18, No 4 (2019)
- Pages: 99-104
- Section: SCHOOL OF IMMUNOLOGY – EXPERT OPINION
- Submitted: 31.12.2019
- Accepted: 31.12.2019
- Published: 31.12.2019
- URL: https://hemoncim.com/jour/article/view/291
- DOI: https://doi.org/10.24287/1726-1708-2019-18-4-99-104
- ID: 291
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Abstract
Chronic granulomatous disease is a primary immunodeficiency, characterized by a violation of the oxygen-dependent mechanisms of phagocytosis. Mutations in the genes encoding proteins of the NADPH-oxidase complex lead to a violation of the respiratory burst. Clinical manifestations are recurrent bacterial and fungal infections, and the development of granulomatous complications due to a defect in autophagy, accompanied by an increase in the level of interleukin-1 inthe blood. The treatment of this disease is continuous preventive antimicrobial therapy, and specific therapy for the treatment of granulomatous complications. Hematopoietic stem cell transplantation from an allogeneic or unrelated donor is currently considered to be only radical treatment for CGD. This article presents a clinical case of the manifestation of an X-linked form of chronic granulomatous disease with granulomatous manifestations in the absence of an infectious history. Parents patient agreed to use personal data in research and publications.
About the authors
D. V. Yukhacheva
Dmitriy Rogachev National Medical Research Center of Pediatric Hematology, Oncology, Immunology Ministry of Healthcare of Russian Federation
Author for correspondence.
Email: yukhachevadv@gmail.com
ORCID iD: 0000-0001-9078-8206
Correspondence: Daria V. Yukhacheva, MD, Department of Clinical Immunology of Dmitriy Rogachev National Medical Research Center of Pediatric Hematology, Oncology, Immunology Ministry of Healthcare of Russian Federation.
Address: Russia 117997, Moscow, Samory Mashela st., 1 Russian FederationD. E. Pershin
Dmitriy Rogachev National Medical Research Center of Pediatric Hematology, Oncology, Immunology Ministry of Healthcare of Russian Federation
ORCID iD: 0000-0002-6148-7209
Moscow Russian Federation
N. G. Uskova
Dmitriy Rogachev National Medical Research Center of Pediatric Hematology, Oncology, Immunology Ministry of Healthcare of Russian Federation
ORCID iD: 0000-0001-9424-1646
Moscow Russian Federation
G. V. Tereshchenko
Dmitriy Rogachev National Medical Research Center of Pediatric Hematology, Oncology, Immunology Ministry of Healthcare of Russian Federation
ORCID iD: 0000-0001-7317-7104
Moscow Russian Federation
N. B. Kuzmenko
Dmitriy Rogachev National Medical Research Center of Pediatric Hematology, Oncology, Immunology Ministry of Healthcare of Russian Federation
ORCID iD: 0000-0002-1669-8621
Moscow Russian Federation
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