dbo:abstract
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- Das Hyper-IgM-Syndrom Typ 2 (HIGM2) ist eine spezielle Form des seltenen Hyper-IgM-Syndromes, einer angeborenen Erkrankung mit erhöhtem Immunglobulin M und gleichzeitig vermindertem bis fehlendem Immunglobulin G und Immunglobulin A im Blutserum. Synonyme sind: AID-Mangel; Activation-induced Cytidine-Deaminase-Mangel (de)
- Hyper IgM Syndrome Type 2 is a rare disease. Unlike other hyper-IgM syndromes, Type 2 patients identified thus far did not present with a history of opportunistic infections. One would expect opportunistic infections in any immunodeficiency syndrome. The responsible genetic lesion is in the AICDA gene found at 12p13. (en)
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- 8039 (xsd:nonNegativeInteger)
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dbp:diagnosis
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- MRI, Chest radiography and genetic testing (en)
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- Hyper IgM syndrome type 2 (en)
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dbp:treatment
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- Allogeneic hematopoietic cell transplantation (en)
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dbp:types
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- Hyper-IgM syndrome type 1,2,3,4 and 5 (en)
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rdfs:comment
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- Das Hyper-IgM-Syndrom Typ 2 (HIGM2) ist eine spezielle Form des seltenen Hyper-IgM-Syndromes, einer angeborenen Erkrankung mit erhöhtem Immunglobulin M und gleichzeitig vermindertem bis fehlendem Immunglobulin G und Immunglobulin A im Blutserum. Synonyme sind: AID-Mangel; Activation-induced Cytidine-Deaminase-Mangel (de)
- Hyper IgM Syndrome Type 2 is a rare disease. Unlike other hyper-IgM syndromes, Type 2 patients identified thus far did not present with a history of opportunistic infections. One would expect opportunistic infections in any immunodeficiency syndrome. The responsible genetic lesion is in the AICDA gene found at 12p13. (en)
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- Hyper-IgM-Syndrom Typ 2 (de)
- Hyper-IgM syndrome type 2 (en)
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- Hyper IgM syndrome type 2 (en)
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