Associated Papers
OAS-1-associated polymorphic autoinflammatory disorder with distinct cutaneous manifestations and multisystem inflammation: Further expanding the spectrum with a phenotype resembling Behcet's disease.
Baskaran N et al.
Indian Journal of Dermatology, Venereology and Leprology, 2025
RNA helicase SKIV2L limits antiviral defense and autoinflammation elicited by the OAS-RNase L pathway.
Yang K et al.
The Embo Journal, 2024
Next-generation phenotyping integrated in a national framework for patients with ultrarare disorders improves genetic diagnostics and yields new molecular findings.
Schmidt A et al.
Nature Genetics, 2024
39039281 (PubMed )
Supplement: 41588_2024_1836_MOESM4_ESM.xlsx › S1
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
Pulmonary alveolar proteinosis due to heterozygous mutation in OAS1: Whole lung lavages for long-term bridging to hematopoietic stem cell transplantation.
Seidl E et al.
Pediatric Pulmonology, 2022
Heterozygous OAS1 gain-of-function variants cause an autoinflammatory immunodeficiency.
Magg T et al.
Science Immunology, 2021
Inborn errors of immunity-recent advances in research on the pathogenesis.
Yamashita M et al.
Inflammation and Regeneration, 2021
2019 CIS Annual Meeting: Immune Deficiency & Dysregulation North American Conference.
Unknown Author
Journal of Clinical Immunology, 2019
Heterozygous Mutations in OAS1 Cause Infantile-Onset Pulmonary Alveolar Proteinosis with Hypogammaglobulinemia.
Cho K et al.
American Journal of Human Genetics, 2018
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