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Immunodeficiency, common variable, 10

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Description

Common variable immunodeficiency-10 (CVID10) is an autosomal dominant primary immunodeficiency characterized by childhood-onset of recurrent infections, hypogammaglobulinemia, and decreased numbers of memory and marginal zone B cells. Some patients may develop autoimmune features and have circulating autoantibodies. An unusual feature is central adrenal insufficiency (summary by Chen et al., 2013). For a general description and a discussion of genetic heterogeneity of common variable immunodeficiency, see CVID1 (607594).

OMIM

  • Mode of Inheritance

  • Autosomal dominant inheritance

VARIANTS

135

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Genes

External Links

  • OMIM

    615577

  • Orphanet
  • HPO
  • Medgen

    C3809991

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