An infant with generalized pustular psoriasis and geographic tongue had a heterozygous IL36RN mutation and IgG2 deficiency

Pathogenic gene mutations in IL36RN, which encodes the interleukin 36-receptor antagonist (IL36Ra), were reported as causative genetic defects in several generalized pustular psoriasis (GPP) cases in 2011 [1,2]. Later, we reported that "GPP without psoriasis vulgaris (PV)" patients had homozygous or compound heterozygous mutations in IL36RN, and only a small number of "GPP with PV" patients had IL36RN mutations [3,4]. Mutation of IL36RN has been associated with GPP in both its heterozygous and homozygous states.