Progress in diagnosis and treatment of RAS-related autoimmune lymphoproliferative disorder.
10.7499/j.issn.1008-8830.2502103
- Author:
Jia-Ning REN
1
;
Yang WAN
;
Xiao-Fan ZHU
1
Author Information
1. Haihe Laboratory of Cell Ecosystem, Tianjin Medical University, Tianjin 300070, China.
- Publication Type:English Abstract
- Keywords:
Autoimmune disorder;
Lymphoproliferative disorder;
RAS gene
- MeSH:
Humans;
Lymphoproliferative Disorders/etiology*;
Autoimmune Diseases/etiology*;
Autoimmune Lymphoproliferative Syndrome/genetics*;
GTP Phosphohydrolases/genetics*;
Proto-Oncogene Proteins p21(ras)/genetics*;
Mutation;
Membrane Proteins
- From:
Chinese Journal of Contemporary Pediatrics
2025;27(9):1149-1155
- CountryChina
- Language:Chinese
-
Abstract:
RAS-associated autoimmune lymphoproliferative disorder (RALD) is a rare congenital immunodeficiency disorder caused by somatic mutations in NRAS or KRAS. Its main pathological feature is immune dysregulation-induced hematologic destruction, presenting with symptoms resembling autoimmune diseases. RALD exhibits significant clinical heterogeneity, with manifestations including autoimmune phenomena, hepatosplenomegaly, lymphadenopathy, monocytosis, and increased susceptibility to infections. Owing to its rarity and its unclear nature, a standardized therapeutic regimen for RALD is currently lacking. This review summarizes the latest advances in the pathogenesis, clinical manifestations, differential diagnosis, and treatment of RALD, aiming to provide new insights and reference for the understanding and management of this disorder.
