Hyper-IgM syndrome 2 is an autosomal recessive disorder characterized by mutations of the AICDA gene. Typically the patients show absence of Immunoglobulins IgG, IgA, and IgE which is compensated by elevated IgM. Patients exhibit a profound immunodeficiency.
Hyper-IgM syndrome | ||||
Hyper-IgM syndrome 1 | ||||
Hyper-IgM syndrome 2 | ||||
AICDA | ||||
Hyper-IgM syndrome 3 | ||||
Hyper-IgM syndrome 4 | ||||
Hyper-IgM syndrome 5 | ||||
1. |
Revy P et al. (2000) Activation-induced cytidine deaminase (AID) deficiency causes the autosomal recessive form of the Hyper-IgM syndrome (HIGM2). |
2. |
Revy P et al. (1998) Normal CD40-mediated activation of monocytes and dendritic cells from patients with hyper-IgM syndrome due to a CD40 pathway defect in B cells. |
3. |
Conley ME et al. (1994) Hyper IgM syndrome associated with defective CD40-mediated B cell activation. |
5. |
Durandy A et al. (1997) Abnormal CD40-mediated activation pathway in B lymphocytes from patients with hyper-IgM syndrome and normal CD40 ligand expression. |
6. |
OMIM.ORG article Omim 605258 |