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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.

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This page contains general medical and/or legal information that cannot be applied safely to any individual case. Medical and/or legal knowledge and practice can change rapidly. Therefore, this page should not be used as a substitute for professional medical and/or legal advice.

Adapted from the IDF Patient & Family Handbook for Primary Immunodeficiency Diseases, Sixth Edition 
Copyright ©2019 by Immune Deficiency Foundation, USA