Information on CANDF10
Basic details
Name: JNK1 haploinsufficiency | Acronym: CANDF10
Alt. names: chronic mucocutaneous candidiasis 10
Gene: MAPK8 | MOI: Autosomal dominant | Mechanism of action: Haploinsufficiency
No. of cases in DB: 0 | First reported in: 2019
Last updated on: 2023-02-28 16:41:18 by Andrés Caballero-Oteyza
OMIM:
Orphanet: -
MONDO: -
DOID: -
ClinGen:
Description
At least 3 patients have been reported with this condition (PMID:31784499). It is characterized by CMC, and a connective tissue disorder (similar to Ehlers-Danlos syndrome). T cells and fibroblasts are mostly affected. Biologically, it is characterized by reduction of Th17 cells ex vivo and in vitro, reduced responses of fibroblasts to IL-17A, IL-17F, and reduced c-Jun/ATF-2- dependant TGF-? signaling.
Management
Description of management option has not been reviewed yet.
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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 |
|---|
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Summary of treatment outcomes
[Considering only Definitive and Possible cases]
| Treatment ⓘ | Responses & clinical indications |
|---|
Please mind that full curation of this condition has not started yet. Please contact us if you want to volunteer.