The R156H variation in IL-12Rβ1 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-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.

High immunoglobulin E level is associated with increased readmission in children with bronchopneumonia

“…Allergic diseases are known to be important contributors to the occurrence of pneumonia and aggravate the condition, 18 and the level of IgE is closely related to the occurrence of allergic diseases. 4 A study has found that repeated attacks of bronchial pneumonia in children are often accompanied by a significant increase in IgE levels, 11,12 and our findings further support this conclusion. We demonstrated that IgE levels were significantly higher in children who were hospitalized repeatedly, so IgE levels in children with bronchopneumonia deserve more clinical attention.…”

“…There were several case reports showing that children with recurrent bronchopneumonia had high IgE levels, 11,12 and that changes in IgE levels may correlate with the severity of bronchopneumonia in children. 13 Meanwhile, children with bronchopneumonia, especially those with severe pneumonia, were often accompanied by immune dysfunction.…”

“…8 Children with asthma and chronic sinusitis have a significantly increased risk of bronchopneumonia and pneumonia, 9,10 suggesting that IgE levels may be associated with the occurrence of bronchopneumonia. There were several case reports showing that children with recurrent bronchopneumonia had high IgE levels, 11,12 and that changes in IgE levels may correlate with the severity of bronchopneumonia in children. 13 Meanwhile, children with bronchopneumonia, especially those with severe pneumonia, were often accompanied by immune dysfunction.…”