PURPOSE, PATIENTS, AND METHODS: Detection of males affected with the X-linked lymphoproliferative disease (XLP) was sought using immunovirologic and molecular genetic linkage techniques. The study population consisted of 20 males in six families with XLP. RESULTS: Concordance for detection of affected males was 100% when linkage analysis using DXS42 and DXS37 DNA probes and antibody responses to challenge with bacteriophage phi X174 were both determined. Most affected males showing IgG subclass immune deficiency could not produce antibodies to Epstein-Barr virus nuclear antigen and had deficient responses to challenge with bacteriophage phi X174. CONCLUSION: Use of only one of the techniques described can fail to lead to the diagnosis of XLP, because problems can prevail with each individual determination.
PURPOSE, PATIENTS, AND METHODS: Detection of males affected with the X-linked lymphoproliferative disease (XLP) was sought using immunovirologic and molecular genetic linkage techniques. The study population consisted of 20 males in six families with XLP. RESULTS: Concordance for detection of affected males was 100% when linkage analysis using DXS42 and DXS37 DNA probes and antibody responses to challenge with bacteriophage phi X174 were both determined. Most affected males showing IgG subclass immune deficiency could not produce antibodies to Epstein-Barr virus nuclear antigen and had deficient responses to challenge with bacteriophage phi X174. CONCLUSION: Use of only one of the techniques described can fail to lead to the diagnosis of XLP, because problems can prevail with each individual determination.
Authors: Massimo Morra; Robert A Barrington; Ana C Abadia-Molina; Susumo Okamoto; Aimee Julien; Charles Gullo; Anuj Kalsy; Matthew J Edwards; Gang Chen; Rosanne Spolski; Warren J Leonard; Brigitte T Huber; Persephone Borrow; Christine A Biron; Abhay R Satoskar; Michael C Carroll; Cox Terhorst Journal: Proc Natl Acad Sci U S A Date: 2005-03-17 Impact factor: 11.205
Authors: E F Posthuma; R G Westendorp; A van der Sluys Veer; J C Kluin-Nelemans; P M Kluin; C B Lamers Journal: Gut Date: 1995-02 Impact factor: 23.059