Bruton agammaglobulinemia

A new disease profile is added to our database – Bruton agammaglobulinemia. X-linked agammaglobulinemia (XLA) is an inherited immunodeficiency disease caused by mutations in the gene coding for Bruton tyrosine kinase (BTK). BTK is critical to the maturation of pre–B cells to differentiating mature B cells. In the absence of BTK, B lymphocytes do not differentiate or mature. Without mature B lymphocytes, antibody-producing plasma cells are also absent. As a consequence, serum levels of immunoglobulins are low or absent. The lymphoid organs in which B cells proliferate, differentiate, and are stored are poorly developed. The incidence of XLA around the world does not vary significantly. This inherited disease occurs in approximately 1 in 250 000 males. To receive a full description of this rare disease absolutely free of charge, please click here and send us a request. The profile was written by our consultant in immunology – Prof. Dr. Mariana Murdjeva, MD, PhD.