Selective predisposition to bacterial infections in IRAK-4-deficient children: IRAK-4-dependent TLRs are otherwise redundant in protective immunity

J Exp Med. 2007 Oct 1;204(10):2407-22. doi: 10.1084/jem.20070628. Epub 2007 Sep 24.

Abstract

Human interleukin (IL) 1 receptor-associated kinase 4 (IRAK-4) deficiency is a recently discovered primary immunodeficiency that impairs Toll/IL-1R immunity, except for the Toll-like receptor (TLR) 3- and TLR4-interferon (IFN)-alpha/beta pathways. The clinical and immunological phenotype remains largely unknown. We diagnosed up to 28 patients with IRAK-4 deficiency, tested blood TLR responses for individual leukocyte subsets, and TLR responses for multiple cytokines. The patients' peripheral blood mononuclear cells (PBMCs) did not induce the 11 non-IFN cytokines tested upon activation with TLR agonists other than the nonspecific TLR3 agonist poly(I:C). The patients' individual cell subsets from both myeloid (granulocytes, monocytes, monocyte-derived dendritic cells [MDDCs], myeloid DCs [MDCs], and plasmacytoid DCs) and lymphoid (B, T, and NK cells) lineages did not respond to the TLR agonists that stimulated control cells, with the exception of residual responses to poly(I:C) and lipopolysaccharide in MDCs and MDDCs. Most patients (22 out of 28; 79%) suffered from invasive pneumococcal disease, which was often recurrent (13 out of 22; 59%). Other infections were rare, with the exception of severe staphylococcal disease (9 out of 28; 32%). Almost half of the patients died (12 out of 28; 43%). No death and no invasive infection occurred in patients older than 8 and 14 yr, respectively. The IRAK-4-dependent TLRs and IL-1Rs are therefore vital for childhood immunity to pyogenic bacteria, particularly Streptococcus pneumoniae. Conversely, IRAK-4-dependent human TLRs appear to play a redundant role in protective immunity to most infections, at most limited to childhood immunity to some pyogenic bacteria.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adolescent
  • Adult
  • Bacterial Infections / immunology*
  • Bacterial Infections / metabolism*
  • Bacterial Infections / pathology
  • Cell Differentiation / immunology
  • Cells, Cultured
  • Child
  • Child, Preschool
  • Cytokines / biosynthesis
  • Cytokines / metabolism
  • Female
  • Gene Expression Regulation
  • Humans
  • Infant
  • Interleukin-1 Receptor-Associated Kinases / deficiency*
  • Interleukin-1 Receptor-Associated Kinases / genetics
  • Interleukin-1 Receptor-Associated Kinases / metabolism*
  • Leukocytes / cytology
  • Leukocytes / immunology
  • Leukocytes / metabolism
  • Male
  • Mutation / genetics
  • Myeloid Cells / immunology
  • Myeloid Cells / metabolism
  • Pedigree
  • Toll-Like Receptors / agonists
  • Toll-Like Receptors / metabolism*

Substances

  • Cytokines
  • Toll-Like Receptors
  • IRAK4 protein, human
  • Interleukin-1 Receptor-Associated Kinases