Immunodeficiency, common variable, 10- MedGen UID:
- 816321
- •Concept ID:
- C3809991
- •
- Disease or Syndrome
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).
Immunodeficiency, common variable, 15- MedGen UID:
- 1847802
- •Concept ID:
- C5882741
- •
- Disease or Syndrome
Common variable immunodeficiency-15 (CVID15) is an autosomal dominant immunologic disorder characterized by the onset of severe recurrent infections in infancy or early childhood. Laboratory studies show hypogammaglobulinemia with antibody deficiencies of IgM, IgG, and IgA due to impaired plasma cell homeostasis, although other B cell subset numbers are normal. T and NK cells are also normal. Treatment with IV Ig results in a favorable clinical response to recurrent infections (Schubert et al., 2018).
For a general description and a discussion of genetic heterogeneity of common variable immunodeficiency, see CVID1 (607594).