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Article

Novel Compound Heterozygous Mutations in HOIP Result in Autoinflammation and Immunodeficiency.

Journal of clinical immunology - 30 Sept 2025

Wang Li, Xiao Jing, Gan Rui, Tang Xuemei, Wu Junfeng

Abstract excerpt

OBJECTIVE: Mutations in the HOIP gene, encoding Heme-oxidized IRP2 ubiquitin ligase-1 (HOIL-1) interacting protein, a key component of the linear ubiquitination chain assembly complex (LUBAC), affect the activation of the NF-κB pathway and result in autoinflammation and immunodeficiency. To date, only three patients with HOIP mutations have been reported in the English literature. This study aimed to identify the...

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

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Source

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Identifiers

PMID: 41026334
DOI: 10.1007/s10875-025-01939-2
PMCID: PMC12484311

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CD4

Variants

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 9 Sept 2026.

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