Conditions / Genetic
immunodeficiency 14
info · Genetic
A combined T cell and B cell immunodeficiency characterized by B- and T-cell abnormalities and onset of recurrent sinopulmonary and other infections in early childhood that has_material_basis_in heterozygous activating mutation in the PIK3CD gene on chromosome
A combined T cell and B cell immunodeficiency characterized by B- and T-cell abnormalities and onset of recurrent sinopulmonary and other infections in early childhood that has_material_basis_in heterozygous activating mutation in the PIK3CD gene on chromosome 1p36.22.
Signs and symptoms
- Decreased circulating specific pneumococcal antibody concentration
- Recurrent respiratory infections
- Recurrent ear infections
- Decreased circulating IgG2 concentration
- Increased transitional B cell proportion
- Increased circulating IgM concentration
- Bronchiectasis
- Lymphadenopathy
- Decreased total T cell count
- Splenomegaly
Also known as: APDS; IMD14; PASLI disease; activated PI3K-delta syndrome; senescent T-cells-lymphadenopathy-immunodeficiency syndrome due to p110delta-activating mutation