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- Title
MIRAGE Syndrome Due to a de novo SAMD9 c.2944C > T (p.Arg982Cys) Variant: a Case Report and Relevant Literature Review.
- Authors
Jiajia Dai; Mei Mei; Gang Li; Lu Wang; Libo Wang
- Abstract
Background: MIRAGE syndrome is a rare autosomal dominant genetic disorder. Methods: We studied a 15-month-old girl with growth retardation and refractory respiratory infections. Results: The patient had thrombocytopenia and was positive for Epstein-Barr virus, cytomegalovirus IgM and IgG, and herpes simplex virus type I and II IgG. The genomic analysis reported a heterozygous de novo SAMD9 c.2944C > T (p.Arg982Cys) pathogenic variant. She improved after antibiotic treatments, but finally died due to severe recurrent infection. Conclusions: Patients with MIRAGE syndrome could have various clinical presentations. Infections from mixed pathogens are common, which require adequate coverage for bacteria, viruses, and fungi.
- Subjects
HERPESVIRUSES; LITERATURE reviews; HUMAN herpesvirus 1; OPTICAL illusions; GENETIC disorders; GROWTH disorders
- Publication
Clinical Laboratory, 2024, Vol 70, Issue 1, p167
- ISSN
1433-6510
- Publication type
Article
- DOI
10.7754/Clin.Lab.2023.230507