Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

Monogenic disorders of the IRF transcription factors.

The Journal of experimental medicine - 5 Jan 2026

Stojcic Mattison P, Yousefi Pariya, Biggs Catherine M, Turvey Stuart E

Abstract excerpt

Interferon regulatory factors (IRFs) are a family of transcription factors essential for immune system development and host defense. Beyond immunity, IRF6 plays an indispensable role in craniofacial development. Inborn errors of IRFs (IE-IRFs) are a group of rare monogenic disorders caused by damaging variants in the IRF family of genes. In this review, we comprehensively discuss known IE-IRFs and how they...

Read the complete abstract on PubMed

Topics

Humans
Interferon Regulatory Factors
Animals
Genetic Diseases, Inborn
Mutation
Genetic Predisposition to Disease

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

Source

Identifiers

PMID: 41269129
DOI: 10.1084/jem.20250939

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 21 Oct 2026.

Related research

Semantic proximity does not establish scientific evidence. Graph snapshot: 2026-09-29.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Monogenic disorders of the IRF transcription factors.PMID 41269129Read ↗

Novel mutations in IRF6 in nonsyndromic cleft lip with or without cleft palate: when should IRF6 mutational screening be done?Semantic proximity Read ↗

A novel IRF6 mutation causing non-syndromic cleft lip with or without cleft palate in a pedigree.Semantic proximity Read ↗

Interferon regulatory factor 6 (IRF6) is associated with oral-facial cleft in individuals that originate in South America.Semantic proximity Read ↗

A heritable cause of cleft lip and palate--Van der Woude syndrome caused by a novel IRF6 mutation. Review of the literature and of the differential diagnosis.Semantic proximity Read ↗

Variation in IRF6 contributes to nonsyndromic cleft lip and palate.Semantic proximity Read ↗

The prevalence, penetrance, and expressivity of etiologic IRF 6variants in orofacial clefts patients from sub‐Saharan AfricaSemantic proximity Read ↗

Role of IRF8 in immune cells functions, protection against infections, and susceptibility to inflammatory diseases.Semantic proximity Read ↗

The TFAP2A-IRF6-GRHL3 genetic pathway is conserved in neurulation.Semantic proximity Read ↗

Regulating IRFs in IFN Driven DiseaseSemantic proximity Read ↗

A Novel IRF6 Variant Detected in a Family With Nonsyndromic Cleft Lip and Palate by Whole Exome Sequencing.Semantic proximity Read ↗

Deep Phenotyping and Molecular Elucidation of a New Syndrome: Ectodermal Dysplasia Caused by IRF6 Variants.Semantic proximity Read ↗

Non‐random distribution of deleterious mutations in the DNA and protein‐binding domains of IRF6 are associated with Van Der Woude syndromeSemantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.