Article

Somatic mutation of <i>ELF4</i> causes autoinflammatory diseases and cell type-specific immune alterations

2026-04-11

Abstract excerpt

ELF4 is an ETS family transcription factor involved in immune regulation, and germline loss-of-function mutations in ELF4 have been known as “deficiency in ELF4, X-linked”(DEX). To date, ELF4-related disease has been exclusively associated with germline mutations. Here, we report a pediatric patient with recurrent mucocutaneous inflammation and periodic fever caused by a somatic truncating mutation in ELF4. By dir...

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Literature Corpus work: 2b8aa6e6-c8bf-55bd-988c-ec41fe574c1b
DOI: 10.64898/2026.04.08.26350315

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