Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders

Hyper-IgM syndrome 2

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
Hyper-IgM syndrome 3
Hyper-IgM syndrome 4
Hyper-IgM syndrome 5



Revy P et al. (2000) Activation-induced cytidine deaminase (AID) deficiency causes the autosomal recessive form of the Hyper-IgM syndrome (HIGM2).


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.


Conley ME et al. (1994) Hyper IgM syndrome associated with defective CD40-mediated B cell activation.


Callard RE et al. (1994) CD40 ligand (CD40L) expression and B cell function in agammaglobulinemia with normal or elevated levels of IgM (HIM). Comparison of X-linked, autosomal recessive, and non-X-linked forms of the disease, and obligate carriers.


Durandy A et al. (1997) Abnormal CD40-mediated activation pathway in B lymphocytes from patients with hyper-IgM syndrome and normal CD40 ligand expression.


OMIM.ORG article

Omim 605258 [^]
Update: April 29, 2019