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Agammaglobulinämie, x-chromosomal

Die x-chromosomal rezessive Gammaglobulinämie ist die häufigste Form der Agammaglobulinämie. Diese Immunstörung wird durch Mutationen des BTK-Gens hervorgerufen, einem wichtigen Steuerungsprotein der B-Zell-Entwicklung.

Gliederung

Störungen der Immunglobulinbildung
Agammaglobulinämie, x-chromosomal
BTK
Hyper-IgM-Syndrom

Referenzen:

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55.

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OMIM.ORG article

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Update: 14. August 2020
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