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Article

IL36RN Mutations Affect Protein Expression and Function: A Basis for Genotype-Phenotype Correlation in Pustular Diseases.

The Journal of investigative dermatology - 1 Sept 2016

Tauber Marie, Bal Elodie, Pei Xue-Yuan, Madrange Marine, Khelil Amel, Sahel Houria, Zenati Akila, Makrelouf Mohamed, Boubridaa Khaled, Chiali Amel, Smahi Naima, Otsmane Farida, Bouajar Bakar, Marrakchi Slaheddine, Turki Hamida, Bourrat Emmanuelle, Viguier Manuelle, Hamel Yamina, Bachelez Hervé, Smahi Asma

Abstract excerpt

Homozygous or compound heterozygous IL36RN gene mutations underlie the pathogenesis of psoriasis-related pustular eruptions including generalized pustular psoriasis, palmoplantar pustular psoriasis, acrodermatitis continua of Hallopeau, and acute generalized exanthematous pustular eruption. We identified two unreported IL36RN homozygous mutations (c.41C>A/p.Ser14X and c.420_426del/p.Gly141MetfsX29) in patients...

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PMID: 27220475
DOI: 10.1016/j.jid.2016.04.038

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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IL36RN Mutations Affect Protein Expression and Function: A Basis for Genotype-Phenotype Correlation in Pustular Diseases.PMID 27220475Read ↗

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