Advances in Mechanism and Treatment of Diseases with Abnormal Cell Cloning and Inflammatory Organ Injury

Xuan ZHOU; Chunlei LI; Yueying MAO; Min SHEN

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Advances in Mechanism and Treatment of Diseases with Abnormal Cell Cloning and Inflammatory Organ Injury

VernacularTitle:细胞克隆异常-脏器炎性损伤疾病的机制和治疗研究进展
Author: Xuan ZHOU ¹ ; Chunlei LI ² ; Yueying MAO ² ; Min SHEN ¹
Author Information

1. Department of Rare Diseases, State Key Laboratory of Complex, Severe, and Rare Diseases, Ministry of Science & Technology, Key Laboratory of Rheumatology and Clinical Immunology, Ministry of Education, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences & Peking Union Medical College, Beijing 100730, China;Department of Rheumatology and Clinical Immunology, National Clinical Research Center for Dermatologic and Immunologic Diseases (NCRC-DID), Ministry of Science & Technology, Key Laboratory of Rheumatology and Clinical Immunology, Ministry of Education, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences & Peking Union Medical College, Beijing 100730, China;.
2. Department of Rare Diseases, State Key Laboratory of Complex, Severe, and Rare Diseases, Ministry of Science & Technology, Key Laboratory of Rheumatology and Clinical Immunology, Ministry of Education, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences & Peking Union Medical College, Beijing 100730, China;.
Publication Type:Journal Article
Keywords: VEXAS syndrome; GATA2 deficiency; STAT3-GOF syndrome; hemophagocytic lymphohistiocytosis; Schnitzler syndrome
From: JOURNAL OF RARE DISEASES 2026;5(3):274-282
CountryChina
Language:Chinese
Abstract:
Clonal cell abnormalities represent a shared initiating event for systemic inflammation and organ injury across a spectrum of diseases, with diverse clonal origing including somatic mutations, germline mutations, and aberrant monoclonal immunoglobulin secretion. This review focuses on the clinical features, mechanism studies and therapeutic advances of the diseases, including VEXAS (vacuoles, E1 enzyme, X-linked, autoin-flammatory, somatic) syndrome, GATA2 deficiency, STAT3 gain-of-function (STAT3-GOF)syndrome, secondary hemophagocytic lymphohistiocytosis, and Schnitzler syndrome. It aims to deepen clinical understanding of these diseases and provide references for precision treatment.