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Homozygous missense mutation in the IL36RN gene resulting in deficiency of interleukin-36-receptor antagonist (DITRA) is phenotypically presented as severe generalized pustular psoriasis starting in early childhood. Compound heterozygous cases have been described with the same DITRA phenotype, but to our knowledge heterozygous IL36RN mutation related to severe generalized pustular psoriasis in early childhood has not been described.

Generalized pustular psoriasis in infant with heterozygous mutation in the IL36RN gene successfully treated with infliximab