TIMELY DIAGNOSIS OF A LIFE-THREATENING PATHOGENIC VARIANT IN THE INTERLEUKIN-2 GAMMA RECEPTOR GENE IN A NEONATE NEONATAL DIAGNOSIS OF SEVERE COMBINED IMMUNODEFICIENCY

Abstract

X-linked Severe Combined Immunodeficiency (X-SCID) is an immune disorder caused by mutations in the IL2RG gene, leading to a fatal outcome if left untreated. We report the case of a newborn with a prenatal suspicion of X-SCID based on the family history of two siblings who died from severe early-onset infections, one of whom exhibited a complete absence of T lymphocytes. Given this background, the patient was approached as a potential case of X-SCID, and the need for hematopoietic stem cell transplantation (HSCT) was considered. However, HSCT for newborns is not available in Peru. At birth, the patient’s immunophenotype was consistent with X-SCID, and genetic testing confirmed the diagnosis. Intravenous immunoglobulin replacement therapy and prophylactic antibiotics were initiated, and the patient was subsequently referred to a specialized center, where an innovative therapeutic alternative was proposed: gene therapy.