Case of T‐B+NK+ X‐Linked Severe Combined Immunodeficiency Disease.

We report a case of T‐B+NK+ severe combined immunodeficiency disease (SCID) caused by IL2RG gene mutation (NM_000206.3 [IL2RG]: c.925‐2A > G). The patient, a 2‐month‐old male, experienced multiple infections and decreased white blood cells in the early postnatal period. Antibiotic treatment was ineffective and ultimately resulted in multiple organ failure. The second‐generation gene sequencing of patient showed that the IL2RG gene had a hemizygous mutation NM_000206.3 (IL2RG): c.925‐2A > G, indicating a classical splice site mutation. According to the guidelines of the American College of Medical Genetics (ACMG), NM_00206.3 (IL2RG): c.925‐2A > G variants can be classified as pathogenic (PVS1&PM1&PM6). [ABSTRACT FROM AUTHOR]