Varaico: Literature-Extracted Genetic Variants

Gene:IL36RN
Variant:p.P76L
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IL36RN

NM_012275.3:p.P76L

Associated Papers

Spesolimab for a child with generalized pustular psoriasis accompanied epilepsy and hyperactivity.

Wang Y et al.

The Journal of Dermatological Treatment, 2025

Diagnostic yield of expanded carrier screening of a multi-ethnic population in yunnan, China.

Wang H et al.

Scientific Reports, 2025

40604033 (PubMed )
Supplement: 41598_2025_8012_MOESM1_ESM.xlsx › S3

IL-36 signaling as a drug target in Crohn's disease patients with IL36RN mutations.

Hecker J et al.

Embo Molecular Medicine, 2025

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

Spesolimab Treatment in GPP: Impact of IL-36RN Mutations and Concomitant Plaque Psoriasis.

Li W et al.

Clinical, Cosmetic and Investigational Dermatology, 2025

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

Krueger JG et al.

Skin Health and Disease, 2024

Enrichment of Immune Dysregulation Disorders in Adult Patients with Human Inborn Errors of Immunity.

Segura-Tudela A et al.

Journal of Clinical Immunology, 2024

38363452 (PubMed )
Supplement: 10875_2024_1664_MOESM1_ESM.docx

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

Okorie CL et al.

Experimental Dermatology, 2024

IL36RN Mutations and Correlated Characteristics in Generalized Pustular Psoriasis Patients in Can Tho City, Vietnam: A Cross-Sectional Study.

Nguyen Thi Thuy T et al.

Dermatology (basel, Switzerland), 2024

Clinical features and genetic analysis of a case series of skeletal ciliopathies in a prenatal setting.

Peng Y et al.

Bmc Medical Genomics, 2023

38062428 (PubMed )
Supplement: 12920_2023_1753_MOESM2_ESM.xlsx › Sheet1

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

Clinical profile of patients with acute generalized pustular psoriasis with and without IL36RN mutations in multi-ethnic Johor Bahru, Malaysia.

Choon SE et al.

Experimental Dermatology, 2023

Newly revealed variants of SERPINA3 in generalized pustular psoriasis attenuate inhibition of ACT on cathepsin G.

Liu Y et al.

Journal of Human Genetics, 2023

Different Clinical Features of Pediatric Generalized Pustular Psoriasis in Patients with or without IL36RN Variants.

Wang Z et al.

Dermatology (basel, Switzerland), 2023

NLRP12 and IL36RN mutations in a Portuguese woman with autoinflammatory syndrome.

Antunes-Duarte S et al.

Jaad Case Reports, 2022

Case report: Infantile generalized pustular psoriasis with IL36RN and CARD14 gene mutations.

Tong X et al.

Frontiers in Genetics, 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

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

Salik D et al.

International Journal of Dermatology, 2021

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

Genetic Landscape of Rare Autoinflammatory Disease Variants in Qatar and Middle Eastern Populations Through the Integration of Whole-Genome and Exome Datasets.

Sharma P et al.

Frontiers in Genetics, 2021

34054914 (PubMed )
Supplement: Data_Sheet_1.zip › Table_4.XLSX › Sheet1

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

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

Unopposed IL-36 Activity Promotes Clonal CD4+ T-Cell Responses with IL-17A Production in Generalized Pustular Psoriasis.

Arakawa A et al.

The Journal of Investigative Dermatology, 2018

Association of IL36RN mutations with clinical features, therapeutic response to acitretin, and frequency of recurrence in patients with generalized pustular psoriasis.

Zhu T et al.

European Journal of Dermatology : Ejd, 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

Therapeutic Efficacy of Interleukin 12/Interleukin 23 Blockade in Generalized Pustular Psoriasis Regardless of IL36RN Mutation Status.

Arakawa A et al.

Jama 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

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

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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."