| 词条 | Hyper-IgM syndrome type 5 |
| 释义 |
| name = {{PAGENAME}} | synonyms = | image = Autosomal recessive - en.svg | image_size = 150px | alt = | caption = Hyper-IgM syndrome type 5 is inherited in an autosomal recessive manner | pronounce = | field = | symptoms = | complications = | onset = | duration = | types = | causes = | risks = | diagnosis = | differential = | prevention = | treatment = | medication = | prognosis = | frequency = | deaths = }} The fifth type of hyper-IgM syndrome has been characterized in three patients from France and Japan. The symptoms are similar to hyper IgM syndrome type 2, but the AICDA gene is intact.[1] These three patients instead had mutations in the catalytic domain of uracil-DNA glycosylase, an enzyme that removes uracil from DNA. In both type 2 and type 5 hyper-IgM syndromes, the patients are profoundly deficient in IgG and IgA because the B cells can't carry out the recombination steps necessary to class-switch. References1. ^{{Cite web|url=https://omim.org/entry/608106|title=OMIM Entry - # 608106 - IMMUNODEFICIENCY WITH HYPER-IgM, TYPE 5; HIGM5|website=omim.org|language=en-us|access-date=2017-06-27}} External links{{Medical resources| ICD10 = D80.5 | ICD9 = | ICDO = | OMIM = 608106 | DiseasesDB = | MedlinePlus = | eMedicineSubj = | eMedicineTopic = | MeSH = | GeneReviewsNBK = | GeneReviewsName = | Orphanet = 101092 }}{{Immune disorders}}{{immunology-stub}} 2 : Immune system disorders|Rare syndromes |
| 随便看 |
|
开放百科全书收录14589846条英语、德语、日语等多语种百科知识，基本涵盖了大多数领域的百科知识，是一部内容自由、开放的电子版国际百科全书。