Hyper-IgM syndrome type 4
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| Hyper-IgM syndrome type 4 | |
| Immunoglobulin M | |
| ICD-10 | D80.5 |
| ICD-9 | 279.05 |
| OMIM | 608184 |
| eMedicine | ped/2457 |
| MeSH | 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.[1]
References
- ↑ 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. doi:10.1111/j.0105-2896.2005.00229.x. PMID 15661021.