BCL10 deficiency
Related gene: BCL10
Inheritance pattern: Autosomal recessive
Deficiency of BCL10 is a rare combined immunodeficiency (CID) associated with severe recurrent infections and autoimmunity. This disorder results in decreased numbers of memory T cells and B cells, and the absence of regulatory T cells. The best treatment for this disorder is unclear, though Ig replacement therapy and preventative antibiotics are likely warranted, and hematopoietic stem cell transplantation (HSCT) should be considered given the severity of this disorder.
