CD25 deficiency: A new conformational mutation prevents the receptor expression on cell surface.

Abstract 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. Highlights • Novel homozygous missense IL2Rα gene mutation. • Cytofluorimetric analysis as diagnostic tool of CD25 deficiency. • Homology Modeling as method to confirm IL2Rα mutated protein instability. [ABSTRACT FROM AUTHOR]