Chronic mucocutaneous candidiasis and connective tissue disease due to JNK1 haploinsufficiency

MONDO:0800142

An immunodeficiency disease caused by a variation in MAPK8, the gene encoding c-Jun N-terminal kinase 1 (JNK1), that is characterized by chronic mucocutaneous candidiasis and a connective tissue disorder that clinically overlaps with Ehlers-Danlos syndrome (EDS).

Also known as: JNK1 haploinsufficiency (causing combination of chronic mucocutaneous candidiasis and connective tissue disease)

0 clinical trials for this condition and its sub-types, 0 tagged with Chronic mucocutaneous candidiasis and connective tissue disease due to JNK1 haploinsufficiency itself.

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