Clinical findings:
(1) recurrent bacterial infections which may be severe
(2) severe enteroviral infections
(3) absence of the tonsils, lymph nodes and other lymphoid tissue
(4) variable risk for autoimmune disorders
(5) variable risk for malignancy
Laboratory findings:
(1) absence of immunoglobulins (IgM, IgG, IgA)
(2) decreased B cells (< 2% of lymphocytes)
(3) absence of specific antibody responses
Types:
(1) X-linked
(1a) affects males
(1b) associated with mutation in BTK gene (on Xq22)
(2) autosomal recessive:
(2a) affects males and females
(2b) associated with several gene mutations
