Molekulargenetische Diagnostik
Praxis Dr. Mato Nagel

Hyper-IgM-Syndrom 2

Hyper-IgM-Syndrom 2 ist eine autosomal rezessive Erkrankung, die durch Mutationen im AICDA-Gen hervorgerufen wird. Die Störung betrifft vor allem die Immunglobuline IgG, IgA und IgE, die fast völlig fehlen. Im Ausgleich dazu ist das IgM stark erhöht. Die Erkrankung führt zu einer starken Infektanfälligkeit.

Gliederung

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

Referenzen:

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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