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Article

Interleukin-36 receptor antagonist deficiency patient with a novel mutation.

Archives de pediatrie : organe officiel de la Societe francaise de pediatrie - 1 Feb 2026

Sezer Müge, Aydın Fatma, Özaydın Eda, Çelikel Elif, Yorulmaz Ahu, Karakuş Resul, Acar Banu

Abstract excerpt

BACKGROUND: The deficiency of interleukin-36 receptor antagonist (DITRA) is a monogenic autoinflammatory condition associated with generalized pustular psoriasis (GPP). Diagnostic criteria and treatment recommendations for DITRA are inadequate. The diagnosis is established by detecting a biallelic loss-of-function mutation in IL36RN, which leads to activation of the IL36 pathway. OBSERVATION AND DISCUSSION: We...

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Identifiers

PMID: 41611556
DOI: 10.1016/j.arcped.2025.12.005

Genes

IL36RN
TNF

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 8 Sept 2026.

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Interleukin-36 receptor antagonist deficiency patient with a novel mutation.PMID 41611556Read ↗

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Mutation in IL36RN impairs the processing and regulatory function of the interleukin-36-receptor antagonist and is associated with DITRA syndrome.Semantic proximity Read ↗

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