Varaico: Literature-Extracted Genetic Variants

Gene:IL36RN
Variant:p.T123M
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IL36RN

NM_012275.3:p.T123M

Associated Papers

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

Sezer M et al.

Archives De Pediatrie : Organe Officiel De La Societe Francaise De Pediatrie, 2026

Severe, Resistant Generalized Pustular Psoriasis-Associated Inflammatory Syndrome Successfully Treated With Adalimumab: A Case Report.

Bourousis E et al.

Cureus, 2025

Whole-genome sequencing reveals rare and structural variants contributing to psoriasis and identifies CERCAM as a risk gene.

Sonehara K et al.

Cell Genomics, 2025

40848718 (PubMed )
Supplement: mmc6.xlsx › Table_S12

Epidemiological, Genetic, Clinical, and Treatment Differences of Generalized Pustular Psoriasis and Acrodermatitis Continua of Hallopeau Across Ethnicities: A Systematic Review.

Hsu FL et al.

American Journal of Clinical Dermatology, 2025

IL-36RN gene: key insights into its role in pediatric pustular psoriasis pathogenesis and treatment.

Wang Y et al.

Frontiers in Pediatrics, 2025

In Silico and In Vitro Analysis of IL36RN Alterations Reveals Critical Residues for the Function of the Interleukin-36 Receptor Complex.

Hassi NK et al.

The Journal of Investigative Dermatology, 2023

A viewpoint on the genetic determinants of generalised pustular psoriasis.

Capon F

Experimental Dermatology, 2023

Safety and efficacy of canakinumab treatment for undifferentiated autoinflammatory diseases: the data of a retrospective cohort two-centered study.

Alexeeva E et al.

Frontiers in Medicine, 2023

Recurrence of impetigo herpetiformis carrying compound heterozygous mutations in IL36RN after remission with secukinumab.

Kanatani Y et al.

The Journal of Dermatology, 2022

Rapid response to secukinumab in a 5-year-old with deficiency of the interleukin-36 receptor antagonist (DITRA) with severe scalp and nail involvement.

Jing G et al.

Pediatric Dermatology, 2021

An update on genetic basis of generalized pustular psoriasis (Review).

Zhou J et al.

International Journal of Molecular Medicine, 2021

Association between mutation of interleukin 36 receptor antagonist and generalized pustular psoriasis: A PRISMA-compliant systematic review and meta-analysis.

Liu ZJ et al.

Medicine, 2020

Myeloperoxidase Modulates Inflammation in Generalized Pustular Psoriasis and Additional Rare Pustular Skin Diseases.

Haskamp S et al.

American Journal of Human Genetics, 2020

Scoping review of biological treatment of deficiency of interleukin-36 receptor antagonist (DITRA) in children and adolescents.

Hospach T et al.

Pediatric Rheumatology Online Journal, 2019

Successful therapy with secukinumab in a patient with generalized pustular psoriasis carrying homozygous IL36RN p.His32Arg mutation.

Gabeff R et al.

International Journal of Dermatology, 2019

Genetic polymorphism of IL36RN in Han patients with generalized pustular psoriasis in Sichuan region of China: A case-control study.

Li Z et al.

Medicine, 2018

Codeine-induced acute generalized exanthematous pustulosis without IL36RN mutations.

Chadli Z et al.

Pharmacogenomics, 2018

[Genetic Polymorphism of IL36RN in Han Patients with Generalized Pustular Psoriasis Alone in Sichuan Region].

Li ZT et al.

Sichuan Da Xue Xue Bao. Yi Xue Ban = Journal of Sichuan University. Medical Science Edition, 2018

Clinical profiles of pediatric patients with GPP alone and with different IL36RN genotypes.

Wang Y et al.

Journal of Dermatological Science, 2017

Mutation analysis of IL36RN gene in Japanese patients with palmoplantar pustulosis.

Takahashi T et al.

The Journal of Dermatology, 2017

Monogenic Autoinflammatory Diseases with Mendelian Inheritance: Genes, Mutations, and Genotype/Phenotype Correlations.

Martorana D et al.

Frontiers in Immunology, 2017

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

Tauber M et al.

The Journal of Investigative Dermatology, 2016

A tale of two sisters: identical IL36RN mutations and discordant phenotypes.

Rajan N et al.

The British Journal of Dermatology, 2016

IL36RN mutations define a severe autoinflammatory phenotype of generalized pustular psoriasis.

Hussain S et al.

The Journal of Allergy and Clinical Immunology, 2015

IL36RN gene analysis of two Japanese patients with generalized pustular psoriasis.

Shiratori T et al.

International Journal of Dermatology, 2015

Novel IL36RN gene mutation revealed by analysis of 8 Japanese patients with generalized pustular psoriasis.

Hayashi M et al.

Journal of Dermatological Science, 2014

The genetic background of generalized pustular psoriasis: IL36RN mutations and CARD14 gain-of-function variants.

Sugiura K

Journal of Dermatological Science, 2014

Novel IL36RN mutation in a Japanese case of early onset generalized pustular psoriasis.

Kanazawa N et al.

The Journal of Dermatology, 2013

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."