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
- 
							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
Cite item
Full Text
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													
References
Supplementary files
 
				
			 
					 
						 
									
 
  
  
  Email this article
			Email this article 

