Long-term remission after allogeneic hematopoietic stem cell transplantation in LPS-responsive beige-like anchor (LRBA) deficiency

LPS-responsive vesicle trafficking, beach and anchor containing protein (LRBA) deficiency has been identified as a primary immunodeficiency (PID) characterized by recurrent infections associated with autoimmunity, such as inflammatory bowel disease and autoimmune cytopenias (see Fig E1 in this article's Online Repository at www.jacionline.org).1-3 A wide range of immunosuppressive treatment measures have only induced temporary relief in affected subjects. Although allogeneic hematopoietic stem cell transplantation (HSCT) is the current treatment for many forms of PIDs, HSCT is less established in patients with autoimmune disease4,5 and has not yet been reported in LRBA-deficient patients.