Addressing diagnostic challenges in primary immunodeficiencies: Laboratory evaluation of Toll-like receptor- and NF-kappa B-mediated immune responses

作者：Frans Glynis; Meyts Isabelle; Picard Capucine; Puel Anne; Zhang Shen Ying; Moens Leen; Wuyts Greet; Ten Bosch Jutte Van der Werff; Casanova Jean Laurent; Bossuyt Xavier^*

来源：Critical Reviews in Clinical Laboratory Sciences, 2014, 51(2): 112-123.

DOI：10.3109/10408363.2014.881317

• Enzyme-linked immunosorbent assay
• flow cytometry
• immunology
• laboratory medicine
• pediatrics

Toll-like receptors (TLRs) play an important role in immunity and mediate their actions via multiple signaling pathways, in particular, the nuclear factor of kappa light polypeptide gene enhancer in B-cells (NF-kappa B) pathway. Rare inherited defects of TLR- and NF-kappa B-dependent responses have recently been recognized. These primary immunodeficiencies predispose children to life-threatening infections and often remain undiagnosed. Establishing a sensitive, specific, cost-effective and simple method for diagnosis is therefore important. In this article, we review the known defects of TLR- and NF-kappa B-mediated pathways and the assays that can be used to screen for such defects.

• 出版日期2014-4