Alonazi Na, S. Mohamed, A. Alonazi, H. Elshazaly, B. Jóri, M. Alanazi, Hashem Aa
{"title":"免疫缺陷，着丝体不稳定和面部畸形综合征:1例报告","authors":"Alonazi Na, S. Mohamed, A. Alonazi, H. Elshazaly, B. Jóri, M. Alanazi, Hashem Aa","doi":"10.4172/2165-7920.10001201","DOIUrl":null,"url":null,"abstract":"Immunodeficiency, centromeric instability, and facial dysmorphism (ICF) syndrome is a rare autosomal recessive disorder, characterized by a variable reduction in serum immunoglobulins, sometimes combined with defective cellular immunity. Here, we report an 18-month-old boy, who presented with colonic perforation. The molecular diagnosis was confirmed by whole-exome sequencing that revealed a homozygous c.2506G>A, (p.Val836Met) mutation in DNMT3B gene. This report expands the clinical and immunological features of ICF syndrome.","PeriodicalId":73664,"journal":{"name":"Journal of clinical case reports","volume":"1 1","pages":""},"PeriodicalIF":0.0000,"publicationDate":"2019-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.4172/2165-7920.10001201","citationCount":"0","resultStr":"{\"title\":\"Immunodeficiency, Centromeric Instability and Facial Dysmorphism Syndrome: A Case Report\",\"authors\":\"Alonazi Na, S. Mohamed, A. Alonazi, H. Elshazaly, B. Jóri, M. Alanazi, Hashem Aa\",\"doi\":\"10.4172/2165-7920.10001201\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"Immunodeficiency, centromeric instability, and facial dysmorphism (ICF) syndrome is a rare autosomal recessive disorder, characterized by a variable reduction in serum immunoglobulins, sometimes combined with defective cellular immunity. Here, we report an 18-month-old boy, who presented with colonic perforation. The molecular diagnosis was confirmed by whole-exome sequencing that revealed a homozygous c.2506G>A, (p.Val836Met) mutation in DNMT3B gene. This report expands the clinical and immunological features of ICF syndrome.\",\"PeriodicalId\":73664,\"journal\":{\"name\":\"Journal of clinical case reports\",\"volume\":\"1 1\",\"pages\":\"\"},\"PeriodicalIF\":0.0000,\"publicationDate\":\"2019-01-01\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"https://sci-hub-pdf.com/10.4172/2165-7920.10001201\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Journal of clinical case reports\",\"FirstCategoryId\":\"1085\",\"ListUrlMain\":\"https://doi.org/10.4172/2165-7920.10001201\",\"RegionNum\":0,\"RegionCategory\":null,\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"\",\"PubModel\":\"\",\"JCR\":\"\",\"JCRName\":\"\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"Journal of clinical case reports","FirstCategoryId":"1085","ListUrlMain":"https://doi.org/10.4172/2165-7920.10001201","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"","JCRName":"","Score":null,"Total":0}
Immunodeficiency, Centromeric Instability and Facial Dysmorphism Syndrome: A Case Report
Immunodeficiency, centromeric instability, and facial dysmorphism (ICF) syndrome is a rare autosomal recessive disorder, characterized by a variable reduction in serum immunoglobulins, sometimes combined with defective cellular immunity. Here, we report an 18-month-old boy, who presented with colonic perforation. The molecular diagnosis was confirmed by whole-exome sequencing that revealed a homozygous c.2506G>A, (p.Val836Met) mutation in DNMT3B gene. This report expands the clinical and immunological features of ICF syndrome.
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