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.

Systematic

Hyper-IgM syndrome
Hyper-IgM syndrome 1
Hyper-IgM syndrome 2
AICDA
Hyper-IgM syndrome 3
Hyper-IgM syndrome 4
Hyper-IgM syndrome 5

References:

1.

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

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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.

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3.

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

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4.

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.

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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.

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Update: Sept. 26, 2018