Novel SAMD9 Variant Causing MIRAGE Syndrome Treated with Subcutaneous Immunoglobulin.

This article discusses a rare genetic disorder called MIRAGE syndrome, which is characterized by various symptoms including myelodysplasia, infection, restricted growth, adrenal hypoplasia, genital phenotypes, enteropathy, achalasia, alacrimia, endocrinopathies, and immune dysregulation. The article presents a case study of a 5-year-old boy with MIRAGE syndrome who had a novel SAMD9 variant and unique pulmonary findings. The patient experienced recurring episodes of febrile illness and improved with immunoglobulin replacement therapy. The article also discusses the potential mechanisms underlying the anti-inflammatory effects of immunoglobulin therapy and suggests that it may benefit other patients with MIRAGE syndrome. [Extracted from the article]