Hypoimmunoglobulinemia with normal T cell function in female siblings

A distinct syndrome reported here provides evidence for an autosomal recessive counterpart to X-linked (Bruton's) hypoimmunoglobulinemia. Two sisters had humoral (B cell) immunodeficiency. One suffered from recurrent infection, the second presented with non septic arthritis. Both had markedly lowered immunoglobulin levels in serum and secretions, deficient antibody production, and absent B-dependent regions in their lymph nodes. They also lacked surface immunoglobulin-bearing peripheral blood lymphocytes. T cell number and cell-mediated immunity were normal; lymphocytes with complement or Fc receptors were present.