Catalog

Hyper-IgM syndrome due to CD40 deficiency

No MMS code

Link to WHO Definition

Hyper-IgM syndrome due to CD40 deficiency – http://id.who.int/icd/entity/1381161550

This is a form of Hyper IgM syndrome characterised by mutations of the CD40 gene. In this type, B cells cannot receive the signal from T cells to switch classes.

Parents

4A01.1 Combined immunodeficiencies
4A01.05 Immunodeficiencies with severe reduction in serum IgG or IgA with normal or elevated IgM and normal numbers of B-cells