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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.
DOI: 10.7754/Clin.Lab.2023.230507
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