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

Italian Journal of Pediatrics

Claudio Pignata³  Matilde Valeria Ursini¹  Mariacarolina Salerno³  Silvia Montella³  Anna Fusco³  Rosa Romano³  Francesca Santamaria³  Giuliana Giardino³  Loredana Palamaro³  Jaap T van Dissel²  Esther van de Vosse² 

[1] International Institute of Genetics and Biophysics, CNR, Naples, Italy;Department of Infectious Diseases, Leiden University Medical Center, Albinusdreef 2, 2333 ZA, Leiden, The Netherlands;Department of Translational Medical Sciences, “Federico II” University, Naples, Italy

关键词: Mycobacterial disease;    Mutation;    Immunodeficiency;    IL-12Rβ1;    IL12RB1;   

Others  :  825357
DOI  :  10.1186/1824-7288-39-12

 received in 2012-10-02, accepted in 2013-02-13,  发布年份 2013

【 摘 要 】

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.

【 授权许可】

   
2013 van de Vosse et al; licensee BioMed Central Ltd.

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