[ras相关自身免疫性淋巴细胞增生性疾病的诊断和治疗进展]。

Q3 Medicine

中国当代儿科杂志 Pub Date : 2025-07-15 DOI:10.7499/j.issn.1008-8830.2502103

Jia-Ning Ren, Yang Wan, Xiao-Fan Zhu

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引用次数: 0

摘要

ras相关自身免疫性淋巴细胞增生性疾病（RALD）是一种罕见的先天性免疫缺陷疾病，由NRAS或KRAS的体细胞突变引起。其主要病理特征是免疫失调引起的血液学破坏，表现为类似自身免疫性疾病的症状。RALD具有明显的临床异质性，表现为自身免疫现象、肝脾肿大、淋巴结病变、单核细胞增多和对感染的易感性增加。由于其罕见性和不明确的性质，目前缺乏标准化的RALD治疗方案。本文综述了RALD的发病机制、临床表现、鉴别诊断和治疗等方面的最新进展，旨在为该病的认识和治疗提供新的见解和参考。

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

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.

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来源期刊

中国当代儿科杂志 Medicine-Pediatrics, Perinatology and Child Health

CiteScore

1.50

自引率

0.00%

发文量

5006

期刊介绍： The Chinese Journal of Contemporary Pediatrics (CJCP) is a peer-reviewed open access periodical in the field of pediatrics that is sponsored by the Central South University/Xiangya Hospital of Central South University and under the auspices of the Ministry of Education of China. It is cited as a source in the scientific and technological papers of Chinese journals, the Chinese Science Citation Database (CSCD), and is one of the core Chinese periodicals in the Peking University Library. CJCP has been indexed by MEDLINE/PubMed/PMC of the American National Library, American Chemical Abstracts (CA), Holland Medical Abstracts (EM), Western Pacific Region Index Medicus (WPRIM), Scopus and EBSCO. It is a monthly periodical published on the 15th of every month, and is distributed both at home and overseas. The Chinese series publication number is CN 43-1301/R；ISSN 1008-8830. The tenet of CJCP is to “reflect the latest advances and be open to the world”. The periodical reports the most recent advances in the contemporary pediatric field. The majority of the readership is pediatric doctors and researchers.