Catalog

Activation-induced cytidine deaminase deficiency

No MMS code

Link to WHO Definition

Activation-induced cytidine deaminase deficiency – http://id.who.int/icd/entity/603312357

This is a rare disease with the absence of immunoglobulin class switch recombination, the lack of immunoglobulin somatic hypermutations, and lymph node hyperplasia caused by the presence of giant germinal centres.

Parents

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