Conditions / Genetic
immunodeficiency 98
info · Genetic
A combined T cell and B cell immunodeficiency that is characterized by recurrent infections associated with lymphoproliferation and autoinflammation in the first decade of life and that has_material_basis_in hemizygous mutation in the TLR8 gene on chromosome X
A combined T cell and B cell immunodeficiency that is characterized by recurrent infections associated with lymphoproliferation and autoinflammation in the first decade of life and that has_material_basis_in hemizygous mutation in the TLR8 gene on chromosome Xp22.
Signs and symptoms
- Decreased total neutrophil count
- Hepatomegaly
- Thrombocytopenia
- Splenomegaly
- Decreased circulating IgG concentration
- Autoimmune hemolytic anemia
- Recurrent infections
- Bone marrow hypocellularity
- Antineutrophil antibody positivity
- Decreased total B cell count
Also known as: X-linked immunodeficiency 98 with autoinflammation