The R156H variation in IL-12Rβ1 is not a mutation
<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...
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doaj-91e8929ac3664139a2330673b418553a2020-11-25T01:40:59ZengBMCItalian Journal of Pediatrics1720-84241824-72882013-02-013911210.1186/1824-7288-39-12The R156H variation in IL-12Rβ1 is not a mutationvan de Vosse Esthervan Dissel Jaap TPalamaro LoredanaGiardino GiulianaSantamaria FrancescaRomano RosaFusco AnnaMontella SilviaSalerno MariacarolinaUrsini Matilde ValeriaPignata Claudio<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> http://www.ijponline.net/content/39/1/12<it>IL12RB1</it>IL-12Rβ1ImmunodeficiencyMutationMycobacterial disease |
collection |
DOAJ |
language |
English |
format |
Article |
sources |
DOAJ |
author |
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 |
spellingShingle |
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 The R156H variation in IL-12Rβ1 is not a mutation Italian Journal of Pediatrics <it>IL12RB1</it> IL-12Rβ1 Immunodeficiency Mutation Mycobacterial disease |
author_facet |
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 |
author_sort |
van de Vosse Esther |
title |
The R156H variation in IL-12Rβ1 is not a mutation |
title_short |
The R156H variation in IL-12Rβ1 is not a mutation |
title_full |
The R156H variation in IL-12Rβ1 is not a mutation |
title_fullStr |
The R156H variation in IL-12Rβ1 is not a mutation |
title_full_unstemmed |
The R156H variation in IL-12Rβ1 is not a mutation |
title_sort |
r156h variation in il-12rβ1 is not a mutation |
publisher |
BMC |
series |
Italian Journal of Pediatrics |
issn |
1720-8424 1824-7288 |
publishDate |
2013-02-01 |
description |
<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> |
topic |
<it>IL12RB1</it> IL-12Rβ1 Immunodeficiency Mutation Mycobacterial disease |
url |
http://www.ijponline.net/content/39/1/12 |
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