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Article

Loss of Function Mutation in ELF4 Causes Autoinflammatory and Immunodeficiency Disease in Human.

Journal of clinical immunology - 1 May 2022

Sun Gan, Qiu Luyao, Yu Lang, An Yunfei, Ding Yuan, Zhou Lina, Wu Junfeng, Yang Xi, Zhang Zhiyong, Tang Xuemei, Xia Huawei, Cao Lili, You Fuping, Zhao Xiaodong, Du Hongqiang

Abstract excerpt

Monogenic autoinflammatory diseases (mAIDs) are a heterogeneous group of diseases affecting primarily innate immunity, with various genetic causes. Genetic diagnosis of mAIDs can assist in the patient's management and therapy. However, a large number of sporadic and familial cases remain genetically uncharacterized. Deficiency in ELF4, X-linked (DEX) is recently identified as a novel mAID. Here, we described a...

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PMID: 35266071
DOI: 10.1007/s10875-022-01243-3

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