Associated Papers
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
RNASEH2C c.194G>A is a Chinese-specific founder mutation in three unrelated patients with Aicardi-Goutières syndrome 3.
Wang Q et al.
Clinical Genetics, 2023
Case report: Durable response to ruxolitinib in a child with TREX1-related disorder.
Bin Khathlan Y et al.
Frontiers in Pediatrics, 2023
37187582 (PubMed )
Supplement: Table1.pdf
Type I interferonopathies with novel compound heterozygous TREX1 mutations in two siblings with different symptoms responded to tofacitinib.
Zhang S et al.
Pediatric Rheumatology Online Journal, 2021
Characterization of human disease phenotypes associated with mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, ADAR, and IFIH1.
Crow YJ et al.
American Journal of Medical Genetics. Part A, 2015
25604658 (PubMed )
Supplement: supplement_1.docx
Select a paper to view details