TLR9 activation is defective in common variable immune deficiency

C Cunningham-Rundles, L Radigan… - The Journal of …, 2006 - journals.aai.org
C Cunningham-Rundles, L Radigan, AK Knight, L Zhang, L Bauer, A Nakazawa
The Journal of Immunology, 2006journals.aai.org
Common variable immune deficiency (CVID) is a primary immune deficiency characterized
by low levels of serum immune globulins, lack of Ab, and reduced numbers of CD27+
memory B cells. Although T, B, and dendritic cell defects have been described, for the great
majority, genetic causes have not been identified. In these experiments, we investigated B
cell and plasmacytoid dendritic cell activation induced via TLR9, an intracellular recognition
receptor that detects DNA-containing CpG motifs from viruses and bacteria. CpG-DNA …
Abstract
Common variable immune deficiency (CVID) is a primary immune deficiency characterized by low levels of serum immune globulins, lack of Ab, and reduced numbers of CD27+ memory B cells. Although T, B, and dendritic cell defects have been described, for the great majority, genetic causes have not been identified. In these experiments, we investigated B cell and plasmacytoid dendritic cell activation induced via TLR9, an intracellular recognition receptor that detects DNA-containing CpG motifs from viruses and bacteria. CpG-DNA activates normal B cells by the constitutively expressed TLR9, resulting in cytokine secretion, IgG class switch, immune globulin production, and potentially, the preservation of long-lived memory B cells. We found that CpG-DNA did not up-regulate expression of CD86 on CVID B cells, even when costimulated by the BCR, or induce production of IL-6 or IL-10 as it does for normal B cells. TLR9, found intracytoplasmically and on the surface of oligodeoxynucleotide-activated normal B cells, was deficient in CVID B cells, as was TLR9 mRNA. TLR9 B cell defects were not related to proportions of CD27+ memory B cells. CpG-activated CVID plasmacytoid dendritic cells did not produce IFN-α in normal amounts, even though these cells contained abundant intracytoplasmic TLR9. No mutations or polymorphisms of TLR9 were found. These data show that there are broad TLR9 activation defects in CVID which would prevent CpG-DNA-initiated innate immune responses; these defects may lead to impaired responses of plasmacytoid dendritic cells and loss of B cell function.
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