Derakhshan Dorna, Taherifard Erfan, Taherifard Ehsan, Sajedianfard Sarvin, Derakhshan Ali
Shiraz University of Medical Sciences, Shiraz, Iran.
Intractable Rare Dis Res. 2020 May;9(2):109-112. doi: 10.5582/irdr.2020.01020.
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 (). Herein, we present a new case of 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.
免疫缺陷10是一种常染色体隐性疾病，表现为虹膜发育不全、肌张力减退和非进行性肌病、复发性细菌感染、自身免疫性溶血性贫血、少汗症和由基质相互作用分子1基因（）突变引起的指甲发育异常。在此，我们报告一例新的介导免疫缺陷病例，携带一种新的移码突变。我们的患者表现为肾病综合征、肌张力减退、肌病、复发性细菌感染、血小板减少和自身免疫性溶血性贫血。她现在23个月大，正在接受类固醇、环孢素和每月静脉注射免疫球蛋白治疗。她最近没有严重感染，正在接受康复治疗以提高运动技能。对于父母近亲结婚且出现一系列不同表现的患者，应怀疑患有罕见的遗传综合征。应鼓励将患者的所有表现综合起来并视为一种疾病。
