Analysis of X-linked agammaglobulinemia patients in Mexico (B222)

Abstract

Abstract Humoral immunodeficiences are very common in the National Registry of Primary Immunodeficiences in Mexico. Among the humoral defects, X-linked agammaglobulinemia (XLA) is one of the most frequently found. In this work we report Btk mutations for 13 unrelated XLA patients some of wich has not been reported previously, most of the mutations affect Btk kinase domain, and PH and SH2 domain affecting mutations were also detected. Btk protein expression was found to be present in the majority of patients, in some cases we detect low expression levels and it was absent in other patients.