Hyper-IgM syndrome type 4
- Hyper-IgM syndrome type 4
Infobox_Disease
Name = PAGENAME
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Caption = Immunoglobulin M
DiseasesDB =
ICD10 = ICD10|D|80|5|d|80
ICD9 = ICD9|279.05
ICDO =
OMIM = 608184
MedlinePlus =
eMedicineSubj = ped
eMedicineTopic = 2457
MeshID = D053306
Hyper-IgM syndrome type 4 is a form of Hyper IgM syndrome which is a defect in class switch recombination downstream of the AICDA gene that does not impair Somatic Hyper Mutation. [cite journal |author=Lougaris V, Badolato R, Ferrari S, Plebani A |title=Hyper immunoglobulin M syndrome due to CD40 deficiency: clinical, molecular, and immunological features |journal=Immunol. Rev. |volume=203 |issue= |pages=48–66 |year=2005 |pmid=15661021 |doi=10.1111/j.0105-2896.2005.00229.x |url=http://www.blackwell-synergy.com/openurl?genre=article&sid=nlm:pubmed&issn=0105-2896&date=2005&volume=203&spage=48]
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