Associated Papers
A scalable approach to resolving variants of uncertain significance.
Tejura M et al.
Biorxiv : the Preprint Server for Biology, 2026
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
Germline Variants in the Immune Response-Related Genes: Possible Modifying Effect on Age-Dependent BRCA1 Penetrance in Breast Cancer Patient.
Kuligina ES et al.
Cancers, 2025
Association of IgG4-related disease with human inborn errors of immunity.
Batani V et al.
Rheumatology (oxford, England), 2025
Diagnostic yield of expanded carrier screening of a multi-ethnic population in yunnan, China.
Wang H et al.
Scientific Reports, 2025
IL-36 signaling as a drug target in Crohn's disease patients with IL36RN mutations.
Hecker J et al.
Embo Molecular Medicine, 2025
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
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
Genomic profiling at a single center cracks the code in inborn errors of immunity.
Andriano A et al.
Internal and Emergency Medicine, 2025
Whole exome sequencing for identifying rare genetic variants related to idiopathic granulomatous mastitis.
Ozer L et al.
Clinical Rheumatology, 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
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
Genomic Landscape of Susceptibility to Severe COVID-19 in the Slovenian Population.
Kovanda A et al.
International Journal of Molecular Sciences, 2024
The Role of Genetics on Psoriasis Susceptibility, Comorbidities, and Treatment Response.
Bui A et al.
Dermatologic Clinics, 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
Attempts to identify the molecular cause of autoinflammatory recurrent fever.
Boyarchuk O et al.
Reumatologia, 2024
Case report: Successful treatment with spesolimab of acrodermatitis continua of Hallopeau in an older patient without IL36RN mutations.
Zheng J et al.
Frontiers in Immunology, 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
Acute generalized exanthematous pustulosis caused by hydroxychloroquine in a patient with rheumatoid arthritis and CARD14 mutation: Case report.
Luo F et al.
Medicine, 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
Implementation of genomic medicine for rare disease in a tertiary healthcare system: Mayo Clinic Program for Rare and Undiagnosed Diseases (PRaUD).
Pinto E Vairo F et al.
Journal of Translational Medicine, 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
An explainable model of host genetic interactions linked to COVID-19 severity.
Onoja A et al.
Communications Biology, 2022
A review of disease burden and clinical management for generalized pustular psoriasis in China.
Lu J et al.
Expert Review of Clinical Immunology, 2022
Genetic epidemiology of autoinflammatory disease variants in Indian population from 1029 whole genomes.
Jain A et al.
Journal, Genetic Engineering & Biotechnology, 2021
[Successful treatment of generalized pustular psoriasis with certolizumab].
Post H et al.
Der Hautarzt; Zeitschrift Fur Dermatologie, Venerologie, Und Verwandte Gebiete, 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
Generalized Pustular Psoriasis: Divergence of Innate and Adaptive Immunity.
Samotij D et al.
International Journal of Molecular Sciences, 2021
An update on genetic basis of generalized pustular psoriasis (Review).
Zhou J et al.
International Journal of Molecular Medicine, 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
Prioritization of candidate genes for a South African family with Parkinson's disease using in-silico tools.
Sebate B et al.
Plos One, 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
Novel use of Autoinflammatory Diseases Activity Index (AIDAI) captures skin and extracutaneous features to help manage pediatric DITRA: A case report and a proposal for a modified disease activity index in autoinflammatory keratinization disorders.
Stephenson C et al.
Pediatric Dermatology, 2020