Autosomal recessive interleukin-1 receptor-associated kinase 4 deficiency in fourth-degree relatives

J Pediatr. 2006 Apr;148(4):549-51. doi: 10.1016/j.jpeds.2005.12.012.

Abstract

We report a kindred with autosomal recessive interleukin-1 receptor-associated kinase 4 (IRAK-4) deficiency in 3 fourth-degree relatives. A diagnosis of IRAK-4 deficiency should be considered in families with invasive bacterial disease, even if the individuals affected are only distantly related, which falsely suggests multigenic or dominant inheritance with low penetrance.

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Child
  • Child, Preschool
  • Family Health*
  • Genes, Recessive*
  • Humans
  • Immunologic Deficiency Syndromes / genetics*
  • Immunologic Deficiency Syndromes / microbiology
  • Infant
  • Interleukin-1 Receptor-Associated Kinases
  • Intracellular Signaling Peptides and Proteins / deficiency*
  • Intracellular Signaling Peptides and Proteins / genetics*
  • Pedigree
  • Pneumococcal Infections / etiology
  • Protein Serine-Threonine Kinases / deficiency*
  • Protein Serine-Threonine Kinases / genetics*
  • Recurrence
  • Spain
  • Staphylococcal Infections / etiology

Substances

  • Intracellular Signaling Peptides and Proteins
  • Interleukin-1 Receptor-Associated Kinases
  • Protein Serine-Threonine Kinases