Hyper-IgM syndrome type 4

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Hyper-IgM syndrome type 4
IgM scheme.svg
Immunoglobulin M
ICD-10 D80.5
ICD-9 279.05
OMIM 608184
eMedicine ped/2457 
MeSH D053306

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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.[1]

References

  1. Lougaris V, Badolato R, Ferrari S, Plebani A (2005). "Hyper immunoglobulin M syndrome due to CD40 deficiency: clinical, molecular, and immunological features". Immunol. Rev. 203: 48–66. PMID 15661021. doi:10.1111/j.0105-2896.2005.00229.x. 





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