著者

Dorna Derakhshan Erfan Taherifard Ehsan Taherifard Sarvin Sajedianfard Ali Derakhshan

出版者

International Research and Cooperation Association for Bio & Socio-Sciences Advancement

雑誌

Intractable & Rare Diseases Research (ISSN:21863644)

巻号頁・発行日

vol.9, no.2, pp.109-112, 2020-05-31 (Released:2020-06-15)

参考文献数

23

---

Immunodeficiency 10 is an autosomal recessive disorder presenting with iris hypoplasia, muscular hypotonia and nonprogressive myopathy, recurrent bacterial infections, autoimmune hemolytic anemia, hypohidrosis and nail dysplasia caused by the mutation of stromal interaction molecule 1 gene (STIM1). Herein, we present a new case of STIM1 mediated immunodeficiency, carrying a novel frameshift mutation. Our patient presented with nephrotic syndrome, hypotonia, myopathy, recurrent bacterial infections, thrombocytopenia and autoimmune hemolytic anemia. She is now 23 months old and is on steroid, cyclosporine and monthly IVIG. She has had no recent significant infections and is receiving rehabilitation therapy to improve her motor skills. Rare genetic syndromes should be suspected in patients of consanguineous parents, who present with a set of different manifestations. Gathering all the patient's manifestations together and looking them as one disease should be encouraged.