Das Hyper-IgM-Syndrom ist eine Gruppe von Erkrankungen, die durch besonders hohe Spiegel des Immunglobulin IgM auffallen. Die gemeinsame Ursache liegt in eines Synthesestörung von anderen spezifischeren Immunglobulinen (IgA, IgG und IgE) im Rahmen des Immunglobulin-Klassenwechsel. Klinisch sind die Patienten meist durch eine erhöhte Infektanfälligkeit charakterisiert.
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Kutukculer N et al. (2003) Disseminated cryptosporidium infection in an infant with hyper-IgM syndrome caused by CD40 deficiency. |
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Aruffo A et al. (1993) The CD40 ligand, gp39, is defective in activated T cells from patients with X-linked hyper-IgM syndrome. |
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Allen RC et al. (1993) CD40 ligand gene defects responsible for X-linked hyper-IgM syndrome. |
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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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Orphanet article Orphanet ID 101088 |
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Wikipedia Artikel Wikipedia DE (Hyper-IgM-Syndrom) |