Diagnosis is made by sequencing the TNFAIP3 gene. The usual laboratory tests are consistent with non-specific inflammation. Antinuclear antibodies and anti-dsDNA antibodies may be positive. Biopsies show non specific inflammatory changes. Differential diagnosis The main differential diagnosis are Behçet's disease and systemic lupus erythematosus.
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