Hadel El-Haddad, Eman Khan, I. El-Hemaidi, A. Absi
{"title":"两名男性患者在其生命的第三个十年中出现输血依赖性贫血和继发于细小病毒B19感染的细胞减少,这是X连锁高免疫球蛋白M免疫缺陷综合征的首次表现","authors":"Hadel El-Haddad, Eman Khan, I. El-Hemaidi, A. Absi","doi":"10.47363/jcrr/2021(3)153","DOIUrl":null,"url":null,"abstract":"We describe two male patients with unique mutation of the CD40L gene, unlike the classic presentation of X-linked hyper immunoglobulin M immunodeficiency syndrome (XHIGM syndrome), both were healthy until presenting in their early twenties with a challenging symptomatic transfusion-dependent anemia, investigations confirmed XHIGM syndrome with concurrent chronic parvovirus infection.","PeriodicalId":36501,"journal":{"name":"Journal of Applied Hematology","volume":"13 1","pages":"157 - 161"},"PeriodicalIF":0.0000,"publicationDate":"2021-12-31","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":"{\"title\":\"Transfusion-dependent anemia, and cytopenia secondary to parvovirus B19 infection as the first manifestation of X-linked hyper immunoglobulin M immunodeficiency syndrome in two male patients in their third decade of life\",\"authors\":\"Hadel El-Haddad, Eman Khan, I. El-Hemaidi, A. Absi\",\"doi\":\"10.47363/jcrr/2021(3)153\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"We describe two male patients with unique mutation of the CD40L gene, unlike the classic presentation of X-linked hyper immunoglobulin M immunodeficiency syndrome (XHIGM syndrome), both were healthy until presenting in their early twenties with a challenging symptomatic transfusion-dependent anemia, investigations confirmed XHIGM syndrome with concurrent chronic parvovirus infection.\",\"PeriodicalId\":36501,\"journal\":{\"name\":\"Journal of Applied Hematology\",\"volume\":\"13 1\",\"pages\":\"157 - 161\"},\"PeriodicalIF\":0.0000,\"publicationDate\":\"2021-12-31\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Journal of Applied Hematology\",\"FirstCategoryId\":\"1085\",\"ListUrlMain\":\"https://doi.org/10.47363/jcrr/2021(3)153\",\"RegionNum\":0,\"RegionCategory\":null,\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"\",\"PubModel\":\"\",\"JCR\":\"Q4\",\"JCRName\":\"Medicine\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"Journal of Applied Hematology","FirstCategoryId":"1085","ListUrlMain":"https://doi.org/10.47363/jcrr/2021(3)153","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"Q4","JCRName":"Medicine","Score":null,"Total":0}
Transfusion-dependent anemia, and cytopenia secondary to parvovirus B19 infection as the first manifestation of X-linked hyper immunoglobulin M immunodeficiency syndrome in two male patients in their third decade of life
We describe two male patients with unique mutation of the CD40L gene, unlike the classic presentation of X-linked hyper immunoglobulin M immunodeficiency syndrome (XHIGM syndrome), both were healthy until presenting in their early twenties with a challenging symptomatic transfusion-dependent anemia, investigations confirmed XHIGM syndrome with concurrent chronic parvovirus infection.