RelB deficiency
Related gene: RELB
Inheritance pattern: Autosomal recessive
RelB deficiency has been found in a small number of individuals with poor T cell and B cell function in spite of normal lymphocyte numbers. Recurrent bacterial infections have been described beginning in the first year of life. Rheumatoid arthritis was described in one child with RelB deficiency. Hematopoietic stem cell transplantation (HSCT) has successfully treated the immunodeficiency, but it is unclear if arthritis resolves after transplantation.
