title: 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.
authors: Esther
authors: E
authors: van de Vosse
authors: Jaap T
authors: JT
authors: van Dissel
authors: Loredana
authors: L
authors: Palamaro
authors: Giuliana
authors: G
authors: Giardino
authors: Francesca
authors: F
authors: Santamaria
authors: Rosa
authors: R
authors: Romano
authors: Anna
authors: A
authors: Fusco
authors: Silvia
authors: S
authors: Montella
authors: Mariacarolina
authors: M
authors: Salerno
authors: Matilde Valeria
authors: MV
authors: Ursini
authors: Claudio
authors: C
authors: Pignata
mesh_terms: D001996:Bronchopneumonia / Q000276:immunology*; D005260:Female; D006801:Humans; D007073:Immunoglobulin E / Q000097:blood*; D053707:Receptors, Interleukin-12 / Q000172:deficiency*
chemical_list: D053707:Receptors, Interleukin-12; D007073:Immunoglobulin E