Information on IRF4-HI
Basic details
Name: IRF4 haploinsufficiency | Acronym: IRF4-HI
Alt. names: Whipple’s disease | pathogen-specific IRF4 immunodeficiency
Gene: IRF4 | MOI: Autosomal dominant | Mechanism of action: Haploinsufficiency
No. of cases in DB: 0 | First reported in: 2018
Last updated on: 2024-10-25 00:00:00 by Xiao P. Peng
OMIM:
Orphanet: -
MONDO: -
DOID: -
ClinGen:
Description
Guerin et al. (2018) identified a rare non-synonymous heterozygous loss-of-function variant (R98W) in 4 patients with Whipple's disease (WD) (PMID: 29537367). This mutation modified the transcriptome of heterozygous leukocytes following Tw stimulation, and was not dominant-negative. The authors showed that AD IRF4 deficiency can underlie WD by haploinsufficiency, with age-dependent incomplete penetrance.
Management
Description of management option has not been reviewed yet.
Please mind that full curation of this condition has not been completed yet. It is currently ongoing.
0 reported cases added to GenIA
| SubjectID | Sex | Fam.ID | AD | AFM | Validity | Country | Population | Reference & Pub.code |
|---|
AD: Age at genetic diagnosis; AFM: age at first manifestation; PMID: PubMed ID; GRID: GenIA reference ID (ref. not in PubMed).
Summary of clinical findings
[Considering only Definitive and Possible cases]
| Rank | Clinical term | Present | Absent | Unreported |
|---|
Please mind that full curation of this condition has not been completed yet. It is currently ongoing.
Summary of treatment outcomes
[Considering only Definitive and Possible cases]
| Treatment ⓘ | Responses & clinical indications |
|---|
Please mind that full curation of this condition has not been completed yet. It is currently ongoing.