Coronin-1A Deficiency
Coronin 1A, an actin regulator that is predominantly expressed in hematopoietic cells, plays a key role in regulating egress of thymocytes and trafficking of naïve T lymphocytes to secondary lymphoid organs. Mutations affecting both alleles of the CORO1A gene have been reported in a patient with CID who presented at 13 months of age with severe vaccine-related varicella and recurrent respiratory tract infections. The immunologic phenotype includes T-cell lymphopenia with normal numbers of B and NK cells. In vitro proliferative responses to mitogens were slightly decreased. Immunoglobulin serum levels were low, but detectable, and antibody responses to antigens were absent.
Cure- Coronin-1A Deficiency – allogeneic hematopoietic stem cell transplantation
The disease can be treated by allogeneic hematopoietic stem cell transplantation