Molekulargenetische Diagnostik
Praxis Dr. Mato Nagel

Hyper-IgM-Syndrom 3

Das Hyper-IgM-Syndrom 3 ist eine autosomal rezessive Erkrankung, die durch Mutationen im CD40-Gen hervorgerufen wird. Die Erkrankung ist charakterisiert durch erniedrigte Spiegel der Immunglobuline IgG, IgA und IgE und einem erhöhte Spiegel an IgM. Dieser Mangel an spezifischen Immunglobulinen spiegelt sich in einer erhöhten Infektanfälligkeit wieder.

Gliederung

Hyper-IgM-Syndrom
Hyper-IgM-Syndrom 1
Hyper-IgM-Syndrom 2
Hyper-IgM-Syndrom 3
CD40
Hyper-IgM-Syndrom 4
Hyper-IgM-Syndrom 5

Referenzen:

1.

Castigli E et. al. (1994) CD40-deficient mice generated by recombination-activating gene-2-deficient blastocyst complementation.

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2.

Kawabe T et. al. (1994) The immune responses in CD40-deficient mice: impaired immunoglobulin class switching and germinal center formation.

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3.

Ferrari S et. al. (2001) Mutations of CD40 gene cause an autosomal recessive form of immunodeficiency with hyper IgM.

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4.

Kutukculer N et. al. (2003) Disseminated cryptosporidium infection in an infant with hyper-IgM syndrome caused by CD40 deficiency.

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5.

Mazzolari E et. al. (2007) First report of successful stem cell transplantation in a child with CD40 deficiency.

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6.

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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7.

Kutukculer N et. al. (2003) Outcome of hematopoietic stem cell transplantation in hyper-IgM syndrome caused by CD40 deficiency.

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