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

• Main Authors: van de Vosse Esther, van Dissel Jaap T, Palamaro Loredana, Giardino Giuliana, Santamaria Francesca, Romano Rosa, Fusco Anna, Montella Silvia, Salerno Mariacarolina, Ursini Matilde Valeria, Pignata Claudio
• Format: Article
• Language: English
• Published: BMC 2013-02-01
• Series: Italian Journal of Pediatrics
• Subjects: <it>IL12RB1</it>; IL-12Rβ1; Immunodeficiency; Mutation; Mycobacterial disease
• Online Access: http://www.ijponline.net/content/39/1/12
• ISSN: 1720-8424; 1824-7288

<p>Abstract</p> <p>Palamaro <it>et al.</it> describe a child with recurrent bronchopneumonia and very high IgE levels in which a variation, R156H, was found in the <it>IL12RB1</it> 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.</p> <p>Palamaro <it>et al.</it> 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.</p>