immunodeficiency 10

info · Immune

A T cell and NK cell immunodeficiency characterized by onset in childhood of recurrent infections due to defective T- and NK-cell function that has_material_basis_in homozygous mutation in the STIM1 gene on chromosome 11p15.4.

Signs and symptoms

Hypotonia
Recurrent infections
Kaposi's sarcoma
Recurrent bacterial infections
Sepsis
Amelogenesis imperfecta
Hypoplasia of the iris
Autoimmune thrombocytopenia
Immunodeficiency
Hepatomegaly

Also known as: CID due to STIM1 deficiency; IMD10; STIM1 deficiency; combined immunodeficiency due to STIM1 deficiency; immune dysfunction with T-cell inactivation due to calcium entry defect 2