Conditions / Immune
immunodeficiency 7
info · Immune
A T cell deficiency characterized by decreased or absent CD3+ T cells with TCR-alpha/beta expression, immune dysregulation, recurrent infections, and failure to thrive that has_material_basis_in homozygous or compound heterozygous mutation in the TRAC gene on
A T cell deficiency characterized by decreased or absent CD3+ T cells with TCR-alpha/beta expression, immune dysregulation, recurrent infections, and failure to thrive that has_material_basis_in homozygous or compound heterozygous mutation in the TRAC gene on chromosome 14q11.2.
Signs and symptoms
- Autoimmunity
- Diarrhea
- Hepatomegaly
- Recurrent oral thrush
- Failure to thrive
- Lymphadenopathy
- Recurrent otitis media
- Recurrent respiratory infections
- Decreased total neutrophil count
- Vitiligo
Also known as: IMD7; TCR-alpha-beta-positive T-cell deficiency; immunodeficiency 7, TCR-alpha/beta deficient