Varaico: Literature-Extracted Genetic Variants

Gene:IL36RN
Variant:p.R48W
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IL36RN

NM_012275.3:p.R48W

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

Characterization of Genetic Landscape and Novel Inflammatory Biomarkers in Patients With Adult-Onset Still's Disease.

Topping J et al.

Arthritis & Rheumatology (hoboken, N.j.), 2025

39492681 (PubMed )
Supplement: ART-77-582-s004.pdf

Generalized pustular psoriasis: immunological mechanisms, genetics, and emerging therapeutics.

Lee CC et al.

Trends in Immunology, 2025

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

Wang Y et al.

Frontiers in Pediatrics, 2025

IL36RN mutations in Chinese patients with acute generalized exanthematous pustulosis.

Li Z et al.

International Journal of Dermatology, 2024

Cutaneous findings and treatments in deficiency of interleukin-36 receptor antagonist (DITRA): A review of the literature.

Okorie CL et al.

Experimental Dermatology, 2024

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

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

Generalized Pustular Psoriasis: Divergence of Innate and Adaptive Immunity.

Samotij D et al.

International Journal of Molecular Sciences, 2021

New variant in deficiency of interleukin-36 receptor antagonist syndrome (DITRA).

Salik D et al.

International Journal of Dermatology, 2021

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

Zhou J et al.

International Journal of Molecular Medicine, 2021

Impact of rare and common genetic variation in the interleukin-1 pathway on human cytokine responses.

van Deuren RC et al.

Genome Medicine, 2021

34034819 (PubMed )
Supplement: 13073_2021_907_MOESM1_ESM.xlsx › Table_S3

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

Clinical and genetic differences between pustular psoriasis subtypes.

Twelves S et al.

The Journal of Allergy and Clinical Immunology, 2019

30036598 (PubMed )
Supplement: mmc1.docx

Assessing the Pathogenicity, Penetrance, and Expressivity of Putative Disease-Causing Variants in a Population Setting.

Wright CF et al.

American Journal of Human Genetics, 2019

30665703 (PubMed )
Supplement: mmc3.xlsx › data_for_supp2

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

A newly revealed IL36RN mutation in sibling cases complements our IL36RN mutation statistics for generalized pustular psoriasis.

Takeichi T et al.

Journal of Dermatological Science, 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

Palmoplantar Pustular Psoriasis Is Associated with Missense Variants in CARD14, but Not with Loss-of-Function Mutations in IL36RN in European Patients.

Mössner R et al.

The Journal of Investigative Dermatology, 2015

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

Hussain S et al.

The Journal of Allergy and Clinical Immunology, 2015

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

Teoh YL et al.

Jaad Case Reports, 2015

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

Shiratori T et al.

International Journal of Dermatology, 2015

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

Sugiura K

Journal of Dermatological Science, 2014

Successful therapy with anakinra in a patient with generalized pustular psoriasis carrying IL36RN mutations.

Hüffmeier U et al.

The British Journal of Dermatology, 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

Prevalent and rare mutations in IL-36RN gene in Chinese patients with generalized pustular psoriasis and psoriasis vulgaris.

Li M et al.

The Journal of Investigative Dermatology, 2013

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

Kanazawa N et al.

The Journal of Dermatology, 2013

Rare variations in IL36RN in severe adverse drug reactions manifesting as acute generalized exanthematous pustulosis.

Navarini AA et al.

The Journal of Investigative Dermatology, 2013

Monogenic autoinflammatory diseases: concept and clinical manifestations.

Almeida de Jesus A et al.

Clinical Immunology (orlando, Fla.), 2013

Mutation analysis of the IL36RN gene in 14 Japanese patients with generalized pustular psoriasis.

Farooq M et al.

Human Mutation, 2013

A novel IL36RN/IL1F5 homozygous nonsense mutation, p.Arg10X, in a Japanese patient with adult-onset generalized pustular psoriasis.

Sugiura K et al.

The British Journal of Dermatology, 2012

Immunology in clinic review series; focus on autoinflammatory diseases: update on monogenic autoinflammatory diseases: the role of interleukin (IL)-1 and an emerging role for cytokines beyond IL-1.

Goldbach-Mansky R

Clinical and Experimental Immunology, 2012

[Generalised pustular psoriasis: the role of mutation in the interleukin-36-receptor antagonist gene].

Dereure O

Annales De Dermatologie Et De Venereologie, 2012

Mutations in IL36RN/IL1F5 are associated with the severe episodic inflammatory skin disease known as generalized pustular psoriasis.

Onoufriadis A et al.

American Journal of Human Genetics, 2011

Lack of association between mutation in IL36RN and palmoplantar pustular psoriasis in Chinese patients.

Xiaoling Y et al.

Anais Brasileiros De Dermatologia, 0

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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."