Coronin 1A deficiency
Related gene: CORO1A
Inheritance pattern: Autosomal recessive
Coronin 1A deficiency is associated with a very low number of T cells, with impaired function, similar to severe combined immunodeficiency (SCID). However, unlike in SCID, affected individuals have a functioning thymus. They can also produce antibodies, though they are non-specific and do not function well. They have severe, early predisposition to infections, as well as early lymphomas. Most have also had neurological complications, though this may be due to confounding factors. Hematopoietic stem cell therapy (HSCT) has been shown to improve the immunodeficiency aspect of the disease.
