Hammarström L, Gillner M, Smith C I
Department of Clinical Immunology, Karolinska Institute at Huddinge Hospital, Sweden.
Curr Opin Immunol. 1993 Aug;5(4):579-84. doi: 10.1016/0952-7915(93)90041-p.
Major emphasis is currently being placed on unraveling the molecular basis of various forms of primary human immunodeficiencies. It is clear from recent studies that not only can different mutations give rise to different phenotypes but the same mutation may result in quite diverse clinical pictures. A correct diagnosis at the DNA level therefore becomes increasingly important in view of the possibility of gene therapy.