Varaico: Literature-Extracted Genetic Variants

Gene:IL36RN
Variant:p.H32R
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IL36RN

NM_012275.3:p.H32R

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

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

Excellent response to secukinumab in an infant with severe generalized pustular psoriasis.

López-Sánchez C et al.

The Journal of Dermatology, 2021

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

Zhou J et al.

International Journal of Molecular Medicine, 2021

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

Codeine-induced acute generalized exanthematous pustulosis without IL36RN mutations.

Chadli Z et al.

Pharmacogenomics, 2018

The genetic basis for most patients with pustular skin disease remains elusive.

Mössner R et al.

The British Journal of Dermatology, 2018

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

Wang Y et al.

Journal of Dermatological Science, 2017

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

Martorana D et al.

Frontiers in Immunology, 2017

Association analysis of psoriasis vulgaris and psoriatic arthritis with loss-of-function mutations in IL36RN in German patients.

Löhr S et al.

The British Journal of Dermatology, 2016

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

Generalized pustular psoriasis with a novel mutation of interleukin-36 receptor antagonist, responding to methotrexate.

Teoh YL et al.

Jaad Case Reports, 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

Six mutations in AAGAB confirm its pathogenic role in Chinese punctate palmoplantar keratoderma patients.

Cui H et al.

The Journal of Investigative Dermatology, 2013

Mutations in IL36RN in patients with generalized pustular psoriasis.

Körber A et al.

The Journal of Investigative 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."