Email this article Immune dysregulation symptoms as a rare manifestation of X-linked lymphoproliferative syndrome type 1
- Authors: Roppelt A.А.1, Fadeeva M.S.1, Pershin D.E.1, Kieva A.М.1, Raykina E.M.1, Gutovskaya E.I.1, Radygina S.A.1, Abramov D.S.1, Shcherbina A.Y.1
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Affiliations:
- Dmitry Rogachev National Medical Research Center of Pediatric Hematology, Oncology and Immunology of Ministry of Healthcare of the Russian Federation
- Issue: Vol 19, No 4 (2020)
- Pages: 178-184
- Section: SCHOOL OF IMMUNOLOGY – EXPERT OPINION
- Submitted: 21.12.2020
- Accepted: 21.12.2020
- Published: 08.07.2025
- URL: https://hemoncim.com/jour/article/view/434
- DOI: https://doi.org/10.24287/1726-1708-2020-19-4-178-184
- ID: 434
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Abstract
X-linked lymphoproliferative syndrome type 1 (XLP1) is a primary immunodeficiency, the most dramatic manifestations of which are hemophagocytic lymphohistiocytosis (usually associated with Epstein-Barr virus), lymphoma and dysgammaglobulinemia. Immune symptoms like vasculitis, aplastic anemia and others are extremely rare. Specialists awareness and suspicion regarding such complications of XLP1 facilitate correct diagnosis and early curative treatment - hematopoietic stem cell transplantation (HSCT). Here we present two clinical cases of XLP1 with immune dysregulation symptoms where one patient underwent successful HSCT. In each case, the parents gave consent to the use of their child's data, including photographs, for research purposes and in publications.
About the authors
A. А. Roppelt
Dmitry Rogachev National Medical Research Center of Pediatric Hematology, Oncology and Immunology of Ministry of Healthcare of the Russian Federation
Author for correspondence.
Email: roppelt_anna@mail.ru
ORCID iD: 0000-0001-5132-1267
Anna A. Roppelt, doctor in the Department of Immunology
1 Samory Mashela St., Moscow 117997
Russian FederationM. S. Fadeeva
Dmitry Rogachev National Medical Research Center of Pediatric Hematology, Oncology and Immunology of Ministry of Healthcare of the Russian Federation
ORCID iD: 0000-0002-6553-2505
Moscow Russian Federation
D. E. Pershin
Dmitry Rogachev National Medical Research Center of Pediatric Hematology, Oncology and Immunology of Ministry of Healthcare of the Russian Federation
ORCID iD: 0000-0002-6148-7209
Moscow Russian Federation
A. М. Kieva
Dmitry Rogachev National Medical Research Center of Pediatric Hematology, Oncology and Immunology of Ministry of Healthcare of the Russian Federation
ORCID iD: 0000-0003-2467-2840
Moscow Russian Federation
E. M. Raykina
Dmitry Rogachev National Medical Research Center of Pediatric Hematology, Oncology and Immunology of Ministry of Healthcare of the Russian Federation
ORCID iD: 0000-0002-7634-2053
Moscow Russian Federation
E. I. Gutovskaya
Dmitry Rogachev National Medical Research Center of Pediatric Hematology, Oncology and Immunology of Ministry of Healthcare of the Russian Federation
ORCID iD: 0000-0002-3800-8927
Moscow Russian Federation
S. A. Radygina
Dmitry Rogachev National Medical Research Center of Pediatric Hematology, Oncology and Immunology of Ministry of Healthcare of the Russian Federation
ORCID iD: 0000-0002-7696-1153
Moscow Russian Federation
D. S. Abramov
Dmitry Rogachev National Medical Research Center of Pediatric Hematology, Oncology and Immunology of Ministry of Healthcare of the Russian Federation
ORCID iD: 0000-0003-3664-2876
Moscow Russian Federation
A. Yu. Shcherbina
Dmitry Rogachev National Medical Research Center of Pediatric Hematology, Oncology and Immunology of Ministry of Healthcare of the Russian Federation
ORCID iD: 0000-0002-3113-4939
Moscow Russian Federation
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