Abstracts (complete list) - Wissenschaft Online

Marta Rizzi, Ulrich Salzer, Klaus Warnatz, Stefanie Hamm, Sigune Goldacker, Beate
Fischer, Hans Hartmut Peter, Hermann Eibel
BAFF Receptor expression in CVID patients
BAFF Receptor (BAFF-R) is a member of the TNF-R superfamily and is expressed mainly
on mature B cells. Common variable immune deficiency (CVID) is a primary immune
deficiency characterized by hypogammaglobulinemia. Several genetic defects
contributing to this phenotype have been identified (mutations in ICOS gene, TACI
gene, CD19 gene). Our group recently identified a deletion mutation within the BAFF-R
gene, removing the transmembrane domain of the protein. The homozygous mutation
precludes the syntheses of functional BAFF-R. Therefore, B cell development in the
BAFF-R deficient patient is arrested at the transitional B cell stage. As a result, the
patient lacks IgG-producing plasmacells and is severely B lymphopenic.
Searching for additional BAFF-R mutations we screened a subgroup of our cohort of
CVID patients with very low number of B cells in peripheral blood (