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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.

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dbo:abstract
  • 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)
dbo:icd10
  • D80.5
dbo:medicalDiagnosis
dbo:omim
  • 608106 (xsd:integer)
dbo:orpha
  • 101092
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  • 6886201 (xsd:integer)
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  • 8039 (xsd:nonNegativeInteger)
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  • 1100075469 (xsd:integer)
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dbp:caption
dbp:diagnosis
  • MRI, Chest radiography and genetic testing (en)
dbp:icd
  • D80.5 (en)
dbp:name
  • Hyper IgM syndrome type 2 (en)
dbp:omim
  • 608106 (xsd:integer)
dbp:orphanet
  • 101092 (xsd:integer)
dbp:treatment
  • Allogeneic hematopoietic cell transplantation (en)
dbp:types
  • Hyper-IgM syndrome type 1,2,3,4 and 5 (en)
dbp:wikiPageUsesTemplate
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rdfs:comment
  • 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)
rdfs:label
  • Hyper-IgM-Syndrom Typ 2 (de)
  • Hyper-IgM syndrome type 2 (en)
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foaf:name
  • Hyper IgM syndrome type 2 (en)
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