Conditions / Immune
immunodeficiency 52
info · Immune
A T cell deficiency characterized by onset of severe recurrent infections in infancy and a defect in T-cell receptor signaling resulting in variable immunological disorders that has_material_basis_in homozygous or compound heterozygous mutation in LAT on chrom
A T cell deficiency characterized by onset of severe recurrent infections in infancy and a defect in T-cell receptor signaling resulting in variable immunological disorders that has_material_basis_in homozygous or compound heterozygous mutation in LAT on chromosome 16p11.2.
Signs and symptoms
- Recurrent infections
- Lymphadenopathy
- Recurrent pneumonia
- Splenomegaly
- Decreased total T cell count
- Persistent CMV viremia
- Abnormal T cell proliferation
- Increased gamma-delta T cell proportion
- Decreased circulating IgA concentration
- Chronic lung disease
Also known as: IMD52; severe combined immunodeficiency due to LAT deficiency