Varaico: Literature-Extracted Genetic Variants

Gene:IL36RN
Variant:p.G39Splc
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IL36RN

NM_012275.3:p.G39Splc

Associated Papers

Genetic spectrum analysis of high-carrier-frequency monogenic disorders based on whole-exome sequencing in the Chinese general population.

Hao N et al.

Human Genomics, 2026

Identification of a Novel FLNC Truncating Variant in Fetal Tetralogy of Fallot: A Case Report and Review of the Literature.

Zhang Z et al.

Diagnostics (basel, Switzerland), 2025

41464097 (PubMed )
Supplement: diagnostics-15-03097-s001.zip › Table_S2.xls › Genetic_Analysis_Variant_List

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

Wang Y et al.

The Journal of Dermatological Treatment, 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

Successful Treatment of Generalized Pustular Psoriasis With Spesolimab in Two Young Children.

Longnecker A et al.

Pediatric Dermatology, 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 › S10

Immunoproteomic Response to IL-17A Blockade in a Patient With Generalized Pustular Psoriasis: New Insights From Plasma Olink Profiling.

Jeng YC et al.

The Journal of Dermatology, 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

Acrodermatitis Continua of Hallopeau and Generalised Pustular Psoriasis: Case Reports of Two Different Manifestations of IL36RN Mutation in Siblings.

Gu M et al.

Psoriasis (auckland, N.z.), 2025

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

Wang Y et al.

Frontiers in Pediatrics, 2025

Clinical Characteristics of CARD14-Associated Papulosquamous Eruption and Evaluation of Therapeutic Efficacy of Secukinumab.

Zhao X et al.

Journal of Inflammation Research, 2025

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

Li W et al.

Clinical, Cosmetic and Investigational Dermatology, 2025

A case of revertant mosaic-like normal-looking spots in a patient with erythroderma with IL36RN and CARD14 heterozygous mutations.

Matsuo M et al.

The Journal of Dermatology, 2024

Asia-Pacific consensus recommendations on the management of generalized pustular psoriasis.

Choon SE et al.

The Journal of Dermatology, 2024

IL36RN mutations in Chinese patients with acute generalized exanthematous pustulosis.

Li Z et al.

International Journal of Dermatology, 2024

Genetic analysis of different subtypes of aseptic pustulosis in the Chinese population.

Chen J et al.

Clinical and Experimental Dermatology, 2024

Genetic Mutations Associated With TNFAIP3 (A20) Haploinsufficiency and Their Impact on Inflammatory Diseases.

Bagyinszky E et al.

International Journal of Molecular Sciences, 2024

Characteristics of psoriatic plaques in generalized pustular psoriasis patients with or without IL36RN mutation.

Hsieh CY et al.

Archives of Dermatological Research, 2024

Mature IL-36γ Induces Stratum Corneum Exfoliation in Generalized Pustular Psoriasis by Suppressing Corneodesmosin.

Sato E et al.

The Journal of Investigative Dermatology, 2024

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

Krueger JG et al.

Skin Health and Disease, 2024

Acquired diffuse palmoplantar erythema with keratoderma in Chinese patients with pustular psoriasis: A predictor for IL36 receptor antagonist c.115+6T>C mutation?

Hsu FL et al.

Experimental 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

Paediatric pustulotic arthro-osteitis patient with an IL36RN variant, heterozygous c.115+6T>C, who was successfully treated with tonsillectomy: A case report and literature review.

Takami K 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

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

Deficiency of interleukin-36 receptor antagonist (DITRA): An analysis of 58 Chinese patients in a tertiary hospital in Taiwan.

Hsieh CY et al.

Experimental Dermatology, 2023

Transcriptomic responses of peripheral blood mononuclear cells to cyclosporin and etanercept in a female infant with juvenile generalized pustular psoriasis.

Lin YC 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

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

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

Wang Z et al.

Dermatology (basel, Switzerland), 2023

Analysis of clinically relevant variants from ancestrally diverse Asian genomes.

Chan SH et al.

Nature Communications, 2022

Neutrophil extracellular traps are involved in enhanced contact hypersensitivity response in IL-36 receptor antagonist-deficient mice.

Hasegawa Y et al.

Scientific Reports, 2022

Elderly-onset generalized pustular psoriasis: a case series.

Chao JP et al.

Clinical and Experimental Dermatology, 2022

Hydroxychloroquine-induced acute generalized exanthematous pustulosis in an orofacial granulomatosis patient with homozygous IL36RN mutation.

Yan C et al.

Dermatologic Therapy, 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

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

Kanatani Y et al.

The Journal of Dermatology, 2022

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

Tong X et al.

Frontiers in Genetics, 2022

Genetic epidemiology of autoinflammatory disease variants in Indian population from 1029 whole genomes.

Jain A et al.

Journal, Genetic Engineering & Biotechnology, 2021

Generalized pustular psoriasis with deficiency of interleukin-36 receptor antagonist associated with sensorineural hearing impairment.

Ichiyama S et al.

The Journal of Dermatology, 2021

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

Successful treatment of a 3-year-old girl with generalized pustular psoriasis using secukinumab monotherapy.

Zhu H et al.

Pediatric Dermatology, 2021

A deep learning approach to identify gene targets of a therapeutic for human splicing disorders.

Gao D et al.

Nature Communications, 2021

Significance of IL36RN mutation analyses in the management of impetigo herpetiformis: A case report and review of published cases.

Yoshikawa M et al.

The Journal of Dermatology, 2021

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

Li H et al.

Journal of Clinical Immunology, 2021

Clinical Application of Whole Exome Sequencing for Monogenic Disorders in PICU of China.

Liu Y et al.

Frontiers in Genetics, 2021

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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."