PW02-012 - First clinical description of an infant with DITRA
نویسندگان
چکیده
Introduction Interleukin-36-receptor antagonist deficiency (DITRA) is a recently described auto-inflammatory disease, characterized by repeated flares of generalized pustular psoriasis, high fever, asthenia and systemic inflammation. This condition is caused by homozygous missense mutation in the IL36RN gene, encoding the interleukin-36-receptor antagonist (IL-36Ra), an anti-inflammatory cytokine. We report herein the first exhaustive clinical description of an infant with DITRA, who was successfully treated with anakinra.
منابع مشابه
First clinical description of an infant with interleukin-36-receptor antagonist deficiency successfully treated with anakinra.
YM is the first son of Tunisian consanguineous parents who developed, at 2 weeks of life, an erythematous and scaly eruption, with subsequent rapid evolution toward generalized pustular psoriasis. Afterward, cutaneous flares of diffuse erythematous rash and pustules involving the whole body appeared, with a once weekly periodicity. Intense irritability was present during flares without fever. M...
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Introduction 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 ...
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