Conditions / Genetic
agammaglobulinemia 10
info · Genetic
An agammaglobulinemia that is characterized by early-childhood onset of recurrent viral and bacterial infections affecting various organ systems, particularly the sinopulmonary system, and that has_material_basis_in heterozygous mutation in the SPI1 gene on ch
An agammaglobulinemia that is characterized by early-childhood onset of recurrent viral and bacterial infections affecting various organ systems, particularly the sinopulmonary system, and that has_material_basis_in heterozygous mutation in the SPI1 gene on chromosome 11p11.
Signs and symptoms
- Decreased circulating IgM concentration
- Agammaglobulinemia
- Absent circulating B cells
- Recurrent respiratory infections
- Recurrent sinusitis
- Decreased circulating IgA concentration
- Decreased circulating IgG concentration
- Meningitis
- Transiently decreased total neutrophil count
- Type I diabetes mellitus