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

Abstract

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).