Novel Compound Heterozygous Mutations in HOIP Result in Autoinflammation and Immunodeficiency

HOIP mutations may lead to multiple immune abnormalities, impaired NF-κB activation, and activation of the type I interferon pathway. These findings highlight the diversity of HOIP mutations and expand the clinical spectrum of associated diseases.

Authors

Junfeng Wu (ORCID: https://orcid.org/0000-0001-5443-5825)
Rui Gan (ORCID: https://orcid.org/0000-0002-4471-9098)
Li Wang (ORCID: https://orcid.org/0000-0002-8686-6627)
Xuemei Tang (ORCID: https://orcid.org/0000-0002-4476-506X)
Jing Xiao (ORCID: https://orcid.org/0000-0002-6525-252X)

Institutions

Affiliated Hospital of Guangdong Medical College Hospital (CN)
Children's Hospital of Chongqing Medical University (CN)
Chongqing Medical University (CN)

Publication Details

Journal: Journal of Clinical Immunology
Published: 2025-09-30
DOI: https://doi.org/10.1007/s10875-025-01939-2
Primary Topic: NF-κB Signaling Pathways
Type: article
Field-Weighted Citation Impact: 0.00

Funders

China Postdoctoral Science Foundation
Chongqing Municipal Education Commission

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article

Novel Compound Heterozygous Mutations in HOIP Result in Autoinflammation and Immunodeficiency

Junfeng Wu, Rui Gan, Li Wang, Xuemei Tang et al.

Sep 30, 2025

Journal of Clinical Immunology

NF-κB Signaling Pathways

article

Novel Compound Heterozygous Mutations in HOIP Result in Autoinflammation and Immunodeficiency

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

September 30, 2025article en

Abstract

HOIP mutations may lead to multiple immune abnormalities, impaired NF-κB activation, and activation of the type I interferon pathway. These findings highlight the diversity of HOIP mutations and expand the clinical spectrum of associated diseases.

Journal of Clinical ImmunologyVol. 45(1)

Affiliated Hospital of Guangdong Medical College Hospital (CN), Children's Hospital of Chongqing Medical University (CN), Chongqing Medical University (CN)

China Postdoctoral Science Foundation, Chongqing Municipal Education Commission

Openalex Percentile: Top 67%

NF-κB Signaling Pathways

DOI Open Access PDF OpenAlex

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