Article
Deleterious mutations in LRBA are associated with a syndrome of immune deficiency and autoimmunity.
American journal of human genetics - 8 Jun 2012
Lopez-Herrera Gabriela, Tampella Giacomo, Pan-Hammarström Qiang, Herholz Peer, Trujillo-Vargas Claudia M, Phadwal Kanchan, Simon Anna Katharina, Moutschen Michel, Etzioni Amos, Mory Adi, Srugo Izhak, Melamed Doron, Hultenby Kjell, Liu Chonghai, Baronio Manuela, Vitali Massimiliano, Philippet Pierre, Dideberg Vinciane, Aghamohammadi Asghar, Rezaei Nima, Enright Victoria, Du Likun, Salzer Ulrich, Eibel Hermann, Pfeifer Dietmar, Veelken Hendrik, Stauss Hans, Lougaris Vassilios, Plebani Alessandro, Gertz E Michael, Schäffer Alejandro A, Hammarström Lennart, Grimbacher Bodo
Abstract excerpt
Most autosomal genetic causes of childhood-onset hypogammaglobulinemia are currently not well understood. Most affected individuals are simplex cases, but both autosomal-dominant and autosomal-recessive inheritance have been described. We performed genetic linkage analysis in consanguineous families affected by hypogammaglobulinemia. Four consanguineous families with childhood-onset humoral immune deficiency and...
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