Information on CANDF10

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 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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Summary of clinical findings

[Considering only Definitive and Possible cases]

Rank Clinical phenotype Present Absent Unreported
Age of onset
distribution

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Summary of treatment outcomes

[Considering only Definitive and Possible cases]

Treatment ⓘ Responses & clinical indications

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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).