Progress in diagnosis and treatment of RAS-related autoimmune lymphoproliferative disorder

Jia-Ning REN; Yang WAN; Xiao-Fan ZHU

doi:10.7499/j.issn.1008-8830.2502103

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Chinese Journal of Contemporary Pediatrics ›› 2025, Vol. 27 ›› Issue (9) : 1149-1155. DOI: 10.7499/j.issn.1008-8830.2502103

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Progress in diagnosis and treatment of RAS-related autoimmune lymphoproliferative disorder

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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.

Key words

Autoimmune disorder / Lymphoproliferative disorder / RAS gene

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Jia-Ning REN , Yang WAN , Xiao-Fan ZHU. Progress in diagnosis and treatment of RAS-related autoimmune lymphoproliferative disorder[J]. Chinese Journal of Contemporary Pediatrics. 2025, 27(9): 1149-1155 https://doi.org/10.7499/j.issn.1008-8830.2502103

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