T-B+NK+ X-连锁严重联合免疫缺陷病病例。

IF 0.8 Q3 MEDICINE, GENERAL & INTERNAL

Case Reports in Medicine Pub Date : 2024-10-17 eCollection Date: 2024-01-01 DOI:10.1155/2024/4278595

Wenya Qian, Min Wu, Guanling Wang

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引用次数: 0

摘要

我们报告了一例由 IL2RG 基因突变（NM_000206.3 [IL2RG]: c.925-2A > G）引起的 T-B+NK+ 重症联合免疫缺陷病（SCID）。患者是一名 2 个月大的男性，在出生后早期曾多次感染，白细胞减少。抗生素治疗无效，最终导致多器官功能衰竭。患者的第二代基因测序结果显示，IL2RG 基因有一个半杂合子突变 NM_000206.3（IL2RG）：c.925-2A > G，表明这是一个典型的剪接位点突变。根据美国医学遗传学会（ACMG）的指南，NM_00206.3 (IL2RG): c.925-2A > G 变异可归类为致病性（PVS1&PM1&PM6）。

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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).

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来源期刊

Case Reports in Medicine MEDICINE, GENERAL & INTERNAL-

CiteScore

1.70

自引率

0.00%

发文量

审稿时长

13 weeks