Conditions / Immune
immunodeficiency 72
info · Immune
A combined immunodeficiency characterized by onset in the first year of life of recurrent infections or systemic inflammation, increased susceptibility to bacterial and viral infections, development of atopy or allergies, hepatosplenomegaly, lymphoproliferatio
A combined immunodeficiency characterized by onset in the first year of life of recurrent infections or systemic inflammation, increased susceptibility to bacterial and viral infections, development of atopy or allergies, hepatosplenomegaly, lymphoproliferation and variable immune cell abnormalities that has_material_basis_in homozygous or compound heterozygous mutation in the NCKAP1L gene on chromosome 12q13.1-q13.2.
Signs and symptoms
- Recurrent infections
- Lymphadenopathy
- Hepatosplenomegaly
- Bronchiectasis
- Increased memory T cell proportion
- Increased circulating IgE concentration
- Increased circulating IgG concentration
- Increased total B cell count
- Recurrent otitis media
- Clubbing of fingers
Also known as: immunodeficiency 72 with autoinflammation