{"title":"T-B+NK+ X-连锁严重联合免疫缺陷病病例。","authors":"Wenya Qian, Min Wu, Guanling Wang","doi":"10.1155/2024/4278595","DOIUrl":null,"url":null,"abstract":"<p><p>We report a case of T-B+NK+ severe combined immunodeficiency disease (SCID) caused by <i>IL2RG</i> gene mutation (NM_000206.3 [<i>IL2RG</i>]: 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 <i>IL2RG</i> gene had a hemizygous mutation NM_000206.3 (<i>IL2RG</i>): 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 (<i>IL2RG</i>): c.925-2A > G variants can be classified as pathogenic (PVS1&PM1&PM6).</p>","PeriodicalId":9627,"journal":{"name":"Case Reports in Medicine","volume":"2024 ","pages":"4278595"},"PeriodicalIF":0.8000,"publicationDate":"2024-10-17","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11502132/pdf/","citationCount":"0","resultStr":"{\"title\":\"Case of T-B+NK+ X-Linked Severe Combined Immunodeficiency Disease.\",\"authors\":\"Wenya Qian, Min Wu, Guanling Wang\",\"doi\":\"10.1155/2024/4278595\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"<p><p>We report a case of T-B+NK+ severe combined immunodeficiency disease (SCID) caused by <i>IL2RG</i> gene mutation (NM_000206.3 [<i>IL2RG</i>]: 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 <i>IL2RG</i> gene had a hemizygous mutation NM_000206.3 (<i>IL2RG</i>): 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 (<i>IL2RG</i>): c.925-2A > G variants can be classified as pathogenic (PVS1&PM1&PM6).</p>\",\"PeriodicalId\":9627,\"journal\":{\"name\":\"Case Reports in Medicine\",\"volume\":\"2024 \",\"pages\":\"4278595\"},\"PeriodicalIF\":0.8000,\"publicationDate\":\"2024-10-17\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11502132/pdf/\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Case Reports in Medicine\",\"FirstCategoryId\":\"1085\",\"ListUrlMain\":\"https://doi.org/10.1155/2024/4278595\",\"RegionNum\":0,\"RegionCategory\":null,\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"2024/1/1 0:00:00\",\"PubModel\":\"eCollection\",\"JCR\":\"Q3\",\"JCRName\":\"MEDICINE, GENERAL & INTERNAL\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"Case Reports in Medicine","FirstCategoryId":"1085","ListUrlMain":"https://doi.org/10.1155/2024/4278595","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"2024/1/1 0:00:00","PubModel":"eCollection","JCR":"Q3","JCRName":"MEDICINE, GENERAL & INTERNAL","Score":null,"Total":0}
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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