%0 Journal Article
%T The R156H variation in IL-12R¦Â1 is not a mutation
%A van de Vosse Esther
%A van Dissel Jaap T
%A Palamaro Loredana
%A Giardino Giuliana
%J The Italian Journal of Pediatrics
%D 2013
%I BioMed Central
%R 10.1186/1824-7288-39-12
%X 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-12R¦Â1 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.
%K IL12RB1
%K IL-12R¦Â1
%K Immunodeficiency
%K Mutation
%K Mycobacterial disease
%U http://www.ijponline.net/content/39/1/12