Conditions / Immune
immunodeficiency 17
info · Immune
A T cell deficiency characterized by partial T-cell lymphopenia with normal numbers of B and NK cells and highly variable clinical severity that has_material_basis_in homozygous or compound heterozygous mutation in the CD3G gene on chromosome 11q23.3.
Signs and symptoms
- Decreased total T cell count
- Chronic decreased circulating IgG2 concentration
- Recurrent oral thrush
- Recurrent otitis media
- Recurrent respiratory infections
- Anoperineal fistula
- Chronic diarrhea
- Autoimmune hemolytic anemia
- Recurrent gastroenteritis
- Failure to thrive
Also known as: CD3-gamma deficiency; IMD17; SCID-like immunodeficiency, T cell-partial, B cell-positive, NK cell-positive; immunodeficiency 17, CD3 gamma deficient