label: chronic mucocutaneous candidiasis and connective tissue disease due to JNK1 haploinsufficiency
label_lc: chronic mucocutaneous candidiasis and connective tissue disease due to jnk1 haploinsufficiency
description: "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)."