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Article

A Novel Frameshift Variant of the ELF4 Gene in a Patient with Autoinflammatory Disease: Clinical Features, Transcriptomic Profiling and Functional Studies.

Journal of clinical immunology - 22 May 2024

Sun Lina, Han Ya'nan, Li Benchang, Yang Ying, Fang Ying, Ren Xiaoxia, An Lu, Hou Xin, Fan Huafeng, Wu Yi

Abstract excerpt

We described the diagnosis and treatment of a patient with autoinflammatory disease, named "Deficiency in ELF4, X-linked (DEX)". A novel ELF4 variant was discovered and its pathogenic mechanism was elucidated. The data about clinical, laboratory and endoscopic features, treatment, and follow-up of a patient with DEX were analyzed. Whole exome sequencing and Sanger sequencing were performed to identify potential...

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Identifiers

PMID: 38773005
DOI: 10.1007/s10875-024-01732-7

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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