Hyper-IgM syndrome type 5
- Hyper-IgM syndrome type 5
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. These three patients instead had mutations in the catalytic domain of uracil-DNA glycosylase, an enzyme that converts cytosine to uracil. 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.
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Hyper-IgM syndrome type 3 — Infobox Disease Name = PAGENAME Caption = Immunoglobulin M DiseasesDB = ICD10 = ICD10|D|80|5|d|80 ICD9 = ICD9|279.05 ICDO = OMIM = 606843 MedlinePlus = eMedicineSubj = ped eMedicineTopic = 2457 MeshID = D053306 Hyper IgM syndrome type 3 is a form … Wikipedia
Hyper IgM syndrome — Infobox Disease Name = PAGENAME Caption = Immunoglobulin M DiseasesDB = ICD10 = ICD10|D|80|5|d|80 ICD9 = ICD9|279.05 ICDO = OMIM = MedlinePlus = eMedicineSubj = ped eMedicineTopic = 2457 MeshID = D053306 Hyper IgM syndrome is a family of genetic… … Wikipedia
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