These are variable even within families. the main features are recurrent oral, genital and/or gastrointestinal ulcers, musculoskeletal and gastrointestinal complaints, cutaneous lesions, episodic fever and recurrent infections. The age on onset is also variable ranging from the first week of life to 29 years. The male:female ratio is 1:3.
Haploinsufficiency of A20
Chromosome 2q deletion
Y chromosome microdeletion
Prenatal cocaine exposure
Mevalonate kinase deficiency
17β-Hydroxysteroid dehydrogenase III deficiency
WNT4 deficiency
Guanidinoacetate methyltransferase deficiency