Qian Wenya, Wu Min, Wang Guanling
Department of Pediatrics, Women and Children's Hospital of Ningbo University, Ningbo, Zhejiang, China.
Case Rep Med. 2024 Oct 17;2024:4278595. doi: 10.1155/2024/4278595. eCollection 2024.
We report a case of T-B+NK+ severe combined immunodeficiency disease (SCID) caused by gene mutation (NM_000206.3 []: 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 gene had a hemizygous mutation NM_000206.3 (): 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 (): c.925-2A > G variants can be classified as pathogenic (PVS1&PM1&PM6).
我们报告了一例由基因突变（NM_000206.3 []: c.925 - 2A＞G）引起的T - B + NK +重症联合免疫缺陷病（SCID）。该患者为2个月大男性，出生后早期经历了多次感染且白细胞减少。抗生素治疗无效，最终导致多器官功能衰竭。对患者进行的二代基因测序显示，该基因存在半合子突变NM_000206.3 (): c.925 - 2A＞G，提示为经典的剪接位点突变。根据美国医学遗传学学会（ACMG）的指南，NM_00206.3 (): c.925 - 2A＞G变异可被分类为致病性变异（PVS1&PM1&PM6）。
