X-linked severe combined immunodeficiency due to IL2RG p.V223F variant: clinical evidence that support its pathogenicity- a case report

Introduction: , accounts for approximately 30% of all SCID cases. Case presentation: p.V223F. Based on this evidence, we propose that its current classification as "likely pathogenic" should be updated to "pathogenic". Discussion: These cases underscore the challenges faced by patients with SCID when timely access to curative therapy is not available. They also highlight the importance of readily accessible but highly informative diagnostic clues, such as the absence of a thymic shadow on chest radiography and the occurrence of severe complications following BCG vaccination. Conclusions: This report expands the known genotypic and phenotypic spectrum of SCID and reinforces the critical need for early diagnosis, appropriate genetic counseling in consanguineous families, and equitable access to newborn screening programs and curative treatments, including hematopoietic stem cell transplantation and gene therapy, in order to improve survival outcomes.