/chronic mucocutaneous candidiasis and connective tissue disease due to JNK1 haploinsufficiency

chronic mucocutaneous candidiasis and connective tissue disease due to JNK1 haploinsufficiency

MONDO:0800142

Also Known As

JNK1 haploinsufficiency (causing combination of chronic mucocutaneous candidiasis and connective tissue disease)

Definition

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).