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Deficiency of interleukin‐36 receptor antagonist ( DITRA ): An analysis of 58 Chinese patients in a tertiary hospital in Taiwan

27 Feb 2023

Abstract excerpt

DITRA, acronym for deficiency of interleukin-36 receptor antagonist (IL36RN), leads to unopposed pro-inflammatory signalling which typically manifests as pustular psoriasis. In Asian patients, c.115 + 6 T > C mutation is the most common and important single-nucleotide variant in DITRA. We present the largest case series consisting of 58 DITRA patients carrying heterozygous or homozygous c.115 + 6 T > C mutation....

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PMID: 36843341
DOI: 10.1111/exd.14783

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