The R156H variation in IL-12Rβ1 is not a mutation

Ital J Pediatr. 2013 Feb 14:39:12. doi: 10.1186/1824-7288-39-12.

Abstract

Palamaro et al. describe a child with recurrent bronchopneumonia and very high IgE levels in which a variation, R156H, was found in the IL12RB1 gene that encodes the IL-12Rβ1 chain. Based on the absence of this variation in 50 unrelated individuals they conclude it is a mutation. We (van de Vosse and van Dissel) feel there is no reason to suspect a defect in IL-12 signaling based on the clinical data, nor evidence for a functional defect in IL-12 signaling in this patient. In addition, the variation is not novel and known as a polymorphism. Without any functional evidence that R156H is a mutation, the current claim is not substantiated. Palamaro et al. respond to argue that the amino acid substitution, R156H described in the described case exerts a summatory effect, as a genetic cofactor, along with an additional and still unidentified molecular alteration of the same pathway.

Publication types

  • Letter
  • Comment

MeSH terms

  • Bronchopneumonia / immunology*
  • Female
  • Humans
  • Immunoglobulin E / blood*
  • Receptors, Interleukin-12 / deficiency*

Substances

  • Receptors, Interleukin-12
  • Immunoglobulin E