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Article

Immune dysregulation due to bi-allelic mutation of the actin remodeling protein DIAPH1.

Frontiers in immunology - 1 Jan 2024

Bhattad Sagar, Ramakrishna Somashekara H, Kumar Ratan, Choi Joseph M, Markle Janet G

Abstract excerpt

Children with severe inflammatory diseases are challenging to diagnose and treat, and the etiology of disease often remains unexplained. Here we present DIAPH1 deficiency as an unexpected genetic finding in a child with fatal inflammatory bowel disease who also displayed complex neurological and developmental phenotypes. Bi-allelic mutations of DIAPH1 were first described in patients with a severe neurological...

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Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

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Identifiers

PMID: 39076976
DOI: 10.3389/fimmu.2024.1406781
PMCID: PMC11284534

Genes

DIAPH1
CD4

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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