A paraprotein in severe combined immunodefeciency disease detected by immunoelectrophoretic analysis of plasma

Abstract

A qualitative study was made of the plasma immunoglobulins of a child with severe combined immunodeficiency. By immunoelectrophoresis an immunoglobulin with an abnormal electrophoretic mobility was detected. This protein possessed mu heavy chain determinants, gave no detectable reaction with antisera specific for light chains, was of a relatively small molecular size, and was probably not composed of subunits held together by easily reduced disulfide bonds. The light chains that were present in this patient's plasma had a homogeneous electrophoretic mobility. The patient's plasma also contained at least two other immunoglobulins whose antigenic identity could not be established. One of these was abnormal in its electrophoretic mobility. The presence of the abnormal protein with mu determinants in the plasma of the second unrelated child with a similar disease suggests that the detection of this protein may have implications for the diagnosis or classification of immunodeficiency diseases.