Conditions / Immune
immunodeficiency 118
info · Immune
A primary immunodeficiency disease that is characterized by increased susceptibility to the development of disseminated mycobacterial infections in infancy, notably after BCG vaccination and that has_material_basis_in hemizygous mutation in the MCTS1 gene on c
A primary immunodeficiency disease that is characterized by increased susceptibility to the development of disseminated mycobacterial infections in infancy, notably after BCG vaccination and that has_material_basis_in hemizygous mutation in the MCTS1 gene on chromosome Xq24.
Signs and symptoms
- Lymphadenopathy
- BCGosis
- Recurrent fever
- Hepatomegaly
- Splenomegaly
- Osteomyelitis
- BCGitis
- Decreased circulating immunoglobulin concentration
- Global developmental delay