Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders
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
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Hyper-IgM syndrome 1
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Hyper-IgM syndrome 2
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AICDA
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Hyper-IgM syndrome 3
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Hyper-IgM syndrome 4
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Hyper-IgM syndrome 5
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| 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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| 6. |
OMIM.ORG article Omim 605258
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