BCL11A deficiency
Related gene: BCL11A
Inheritance pattern: Autosomal dominant
BCL11A deficiency is a rare combined immunodeficiency (CID) that causes a profound lack of T cells and risk of invasive infections akin to severe combined immunodeficiency (SCID). Other features include neonatal teeth, umbilical hernia, and skeletal and brain abnormalities. The immunologic features of this disorder are correctable by hematopoietic stem cell transplantation (HSCT). This disorder is autosomal dominant but occurred due to a spontaneous variant in the first described affected individual.
