Catalog

Hyper-IgM syndrome due to uracil N glycosylase

No MMS code

Link to WHO Definition

Hyper-IgM syndrome due to uracil N glycosylase – http://id.who.int/icd/entity/492472329

This has been characterised in three patients from France and Japan. The symptoms are similar to hyper IgM syndrome type 2, but the AICDA gene is intact.

Parents

4A01.05 Immunodeficiencies with severe reduction in serum IgG or IgA with normal or elevated IgM and normal numbers of B-cells