Varaico: Literature-Extracted Genetic Variants

Gene:IL36RN
Variant:p.L27P
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IL36RN

NM_012275.3:p.L27P

Associated Papers

A scalable approach to resolving variants of uncertain significance.

Tejura M et al.

Biorxiv : the Preprint Server for Biology, 2026

41727046 (PubMed )
Supplement: media-7.xlsx › VarChAMP_data_supp_mat_PP

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

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

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

Targeted review of IL36RN mutations in patients with generalised pustular psoriasis.

Krueger JG et al.

Skin Health and Disease, 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

Pathophysiology of generalized pustular psoriasis.

Young KZ et al.

Experimental Dermatology, 2023

Prevalence, comorbidities and mortality of generalized pustular psoriasis: A literature review.

Prinz JC et al.

Journal of the European Academy of Dermatology and Venereology : Jeadv, 2023

A review of disease burden and clinical management for generalized pustular psoriasis in China.

Lu J et al.

Expert Review of Clinical Immunology, 2022

Pustular psoriasis of pregnancy: Clinical and genetic characteristics in a series of eight patients and review of the literature.

Ennouri M et al.

Dermatologic Therapy, 2022

Role of Interleukin 36 in Generalised Pustular Psoriasis and Beyond.

Sugiura K

Dermatology and Therapy, 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

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

Diagnostic next generation sequencing in neonatal erythroderma.

Cuperus E et al.

Journal Der Deutschen Dermatologischen Gesellschaft = Journal of the German Society of Dermatology : Jddg, 2021

Novel IL36RN Mutation Identified in Pediatric-Onset Generalized Pustular Psoriasis Causes IL36 Antagonist Degradation.

Li H et al.

Journal of Clinical Immunology, 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

Successful use of secukinumab in a 4-year-old patient with deficiency of interleukin-36 antagonist.

Köstner K et al.

Rheumatology (oxford, England), 2018

Juvenile interleukin-36 receptor antagonist deficiency (DITRA) with c.80T>C (p.Leu27Pro) mutation successfully treated with etanercept and acitretin.

Cuperus E et al.

Jaad Case Reports, 2018

Generation and functional characterization of anti-human and anti-mouse IL-36R antagonist monoclonal antibodies.

Ganesan R et al.

Mabs, 2017

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

One SNP at a Time: Moving beyond GWAS in Psoriasis.

Ray-Jones H et al.

The Journal of Investigative Dermatology, 2016

Correlation of IL36RN mutation with different clinical features of pustular psoriasis in Chinese patients.

Wang TS et al.

Archives of Dermatological Research, 2016

From bench to bedside and back again: translational research in autoinflammation.

Holzinger D et al.

Nature Reviews. Rheumatology, 2015

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

Homozygous IL36RN mutation and NSD1 duplication in a patient with severe pustular psoriasis and symptoms unrelated to deficiency of interleukin-36 receptor antagonist.

Carapito R et al.

The British 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

Mutation analysis of the IL36RN gene in Chinese patients with generalized pustular psoriasis with/without psoriasis vulgaris.

Li X 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

Increased epidermal expression and absence of mutations in CARD14 in a series of patients with sporadic pityriasis rubra pilaris.

Eytan O et al.

The British Journal of Dermatology, 2014

Generalized pustular psoriasis triggered by amoxicillin in monozygotic twins with compound heterozygous IL36RN mutations: comment on the article by Navarini et al.

Sugiura K et al.

The Journal of Investigative Dermatology, 2014

Mutations in IL36RN in patients with generalized pustular psoriasis.

Körber A et al.

The Journal of Investigative Dermatology, 2013

The majority of generalized pustular psoriasis without psoriasis vulgaris is caused by deficiency of interleukin-36 receptor antagonist.

Sugiura K 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."