title: Addressing diagnostic challenges in primary immunodeficiencies: laboratory evaluation of Toll-like receptor- and NF-κB-mediated immune responses.
abstract: 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-κB) pathway. Rare inherited defects of TLR- and NF-κB-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-κB-mediated pathways and the assays that can be used to screen for such defects.
authors.affiliation: Department of Microbiology and Immunology, Experimental Laboratory Immunology , KU Leuven, Leuven , Belgium .
authors.forename: Glynis
authors.initials: G
authors.lastname: Frans
authors.forename: Isabelle
authors.initials: I
authors.lastname: Meyts
authors.forename: Capucine
authors.initials: C
authors.lastname: Picard
authors.forename: Anne
authors.initials: A
authors.lastname: Puel
authors.forename: Shen-Ying
authors.initials: SY
authors.lastname: Zhang
authors.forename: Leen
authors.initials: L
authors.lastname: Moens
authors.forename: Greet
authors.initials: G
authors.lastname: Wuyts
authors.forename: Jutte
authors.initials: J
authors.lastname: Van der Werff Ten Bosch
authors.forename: Jean-Laurent
authors.initials: JL
authors.lastname: Casanova
authors.forename: Xavier
authors.initials: X
authors.lastname: Bossuyt
mesh_terms: D004797:Enzyme-Linked Immunosorbent Assay; D005434:Flow Cytometry; D006801:Humans; D007118:Immunoassay / Q000379:methods*; D007153:Immunologic Deficiency Syndromes / Q000175:diagnosis*; D016328:NF-kappa B / Q000097:blood* / Q000378:metabolism*; D015398:Signal Transduction / Q000502:physiology; D051193:Toll-Like Receptors / Q000097:blood* / Q000378:metabolism*
chemical_list: D016328:NF-kappa B; D051193:Toll-Like Receptors