Department of "NEUROFARBA", Section of Child's Health, University of Florence, Italy; Department of Haematology-Oncology "Anna Meyer" Children's Hospital, Florence, Italy.
Department of Structural and Molecular Microbiology, Structural Biology Research Center, Structural Biology Brussels, VIB, Vrije Universiteit Brussel, Pleinlaan 2, 1050 Brussels, Belgium.
Clin Immunol. 2019 Apr;201:15-19. doi: 10.1016/j.clim.2019.02.003. Epub 2019 Feb 8.
CD25 deficiency is a very rare autosomal recessive disorder that shows a clinical phenotype highly overlapping IPEX syndrome with an increased susceptibility to viral, bacterial, and fungal infections. It is due to mutations in the IL2Rα gene that codes for the α subunit of the IL2 receptor complex. Here we report the characterization of a novel IL2Rα gene mutation leading to a severe protein conformational alteration that abrogates its cell surface expression in a child presenting with early-onset IPEX-like disorder. Cytofluorimetric analysis revealed the total absence of CD25 cell surface expression and addressed IL2Rα molecular investigation. The early clinical and molecular diagnosis of CD25 deficiency in this patient promptly led to hematopoietic stem cell transplantation (HSCT), allowing complete resolution of the symptoms and definitive cure of the disease.
CD25 缺乏症是一种非常罕见的常染色体隐性遗传病，其临床表现与 IPEX 综合征高度重叠，易发生病毒、细菌和真菌感染。它是由于编码 IL2 受体复合物 α 亚单位的 IL2Rα 基因突变引起的。在这里，我们报告了一种新型的 IL2Rα 基因突变导致严重的蛋白构象改变，从而导致患儿出现早发性 IPEX 样疾病时其细胞表面表达缺失。流式细胞术分析显示 CD25 细胞表面表达完全缺失，并对 IL2Rα 分子进行了研究。该患者的 CD25 缺乏症的早期临床和分子诊断迅速导致造血干细胞移植（HSCT），从而完全缓解症状并彻底治愈疾病。
