Associated Papers
Association of IgG4-related disease with human inborn errors of immunity.
Batani V et al.
Rheumatology (oxford, England), 2025
40569058 (PubMed )
Supplement: keaf353_supplementary_data.zip › keaf353_Supplementary_Data › rhe-24-2575-File009.pdf
Isolated Chronic Mucocutaneous Candidiasis due to a Novel Duplication Variant of IL17RC.
Noma K et al.
Journal of Clinical Immunology, 2023
Chronic mucocutaneous candidiasis presenting as refractory fissured tongue in a patient with IL-17RC mutation: the first reported case of Chinese ethnicity.
Xie Y et al.
Emerging Microbes & Infections, 2023
Isolated chronic mucocutaneous candidiasis due to a novel duplication variant of IL17RC.
Noma K et al.
Research Square, 2023
Presence of rare potential pathogenic variants in subjects under 65 years old with very severe or fatal COVID-19.
López-Rodríguez R et al.
Scientific Reports, 2022
35725860 (PubMed )
Supplement: 41598_2022_14035_MOESM3_ESM.xlsx › Hoja1
Integration of whole genome sequencing into a healthcare setting: high diagnostic rates across multiple clinical entities in 3219 rare disease patients.
Stranneheim H et al.
Genome Medicine, 2021
33726816 (PubMed )
Supplement: 13073_2021_855_MOESM3_ESM.xlsx › Reported_genes_and_variants
Inherited IL-17RC deficiency in patients with chronic mucocutaneous candidiasis.
Ling Y et al.
The Journal of Experimental Medicine, 2015
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