Details

Autor(en) / Beteiligte

• Warnatz, Klaus
• Salzer, Ulrich
• Rizzi, Marta
• Fischer, Beate
• Gutenberger, Sylvia
• Böhm, Joachim
• Kienzler, Anne-Kathrin
• Pan-Hammarström, Qiang
• Hammarström, Lennart
• Rakhmanov, Mirzokhid
• Schlesier, Michael
• Grimbacher, Bodo
• Peter, Hans-Hartmut
• Eibel, Hermann

Titel

B-cell activating factor receptor deficiency is associated with an adult-onset antibody deficiency syndrome in humans

Ist Teil von

• Proceedings of the National Academy of Sciences - PNAS, 2009-08, Vol.106 (33), p.13945-13950

Ort / Verlag

United States: National Academy of Sciences

Erscheinungsjahr

2009

Quelle

MEDLINE

Beschreibungen/Notizen

• B-cell survival depends on signals induced by B-cell activating factor (BAFF) binding to its receptor (BAFF-R). In mice, mutations in BAFF or BAFF-R cause B-cell lymphopenia and antibody deficiency. Analyzing BAFF-R expression and BAFF-binding to B cells in common variable immunodeficiency (CVID) patients, we identified two siblings carrying a homozygous deletion in the BAFF-R gene. Removing most of the BAFF-R transmembrane part, the deletion precludes BAFF-R expression. Without BAFF-R, B-cell development is arrested at the stage of transitional B cells and the numbers of all subsequent B-cell stages are severely reduced. Both siblings have lower IgG and IgM serum levels but, unlike most CVID patients, normal IgA concentrations. They also did not mount a T-independent immune response against pneumococcal cell wall polysaccharides but only one BAFF-R-deficient sibling developed recurrent infections. Therefore, deletion of the BAFF-R gene in humans causes a characteristic immunological phenotype but it does not necessarily lead to a clinically manifest immunodeficiency.