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The R156H variation in IL-12R?1 is not a mutation.

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-12R?1 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.

SUBMITTER: van de Vosse E

PROVIDER: S-EPMC3584738 | biostudies-literature | 2013

REPOSITORIES: biostudies-literature

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

van de Vosse Esther E van Dissel Jaap T JT Palamaro Loredana L Giardino Giuliana G Santamaria Francesca F Romano Rosa R Fusco Anna A Montella Silvia S Salerno Mariacarolina M Ursini Matilde Valeria MV Pignata Claudio C

Italian journal of pediatrics 20130214

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 varia ...[more]

PMID: 23410226

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