title: Interleukin 12 receptor deficiency in a child with recurrent bronchopneumonia and very high IgE levels.
abstract: Interleukin-12 (IL-12) is involved in cellular immune responses against intracellular pathogens by promoting the generation of T naive in T helper 1 (Th1) cells and by increasing interferon-gamma (IFN-gamma) production from T and natural killer (NK) cells. A defective induction of a Th1 response may lead to a higher risk of infections, and, in particular, infections due to typical and atypical Mycobacteria. We report on the case of a girl with suffering from recurrent bronchopneumonia associated with very high serum IgE levels, who exhibited a profound impairment of the Th1 generation associated with a novel mutation in the exon 5 of the IL-12R β1 gene (R156H). Our data suggest that in children with severe and recurrent infections, even in the absence of a mycobacterial infection, functional and/or genetic alterations of the molecular mechanisms governing Th1/Th2 homeostasis might be responsible for an atypical immunodeficiency and, therefore, should be investigated in these patients.
authors.affiliation: Department of Pediatrics, Federico II University, Naples, Italy.
authors.forename: Loredana
authors.initials: L
authors.lastname: Palamaro
authors.forename: Giuliana
authors.initials: G
authors.lastname: Giardino
authors.forename: Francesca
authors.initials: F
authors.lastname: Santamaria
authors.forename: Rosa
authors.initials: R
authors.lastname: Romano
authors.forename: Anna
authors.initials: A
authors.lastname: Fusco
authors.forename: Silvia
authors.initials: S
authors.lastname: Montella
authors.forename: Mariacarolina
authors.initials: M
authors.lastname: Salerno
authors.forename: Matilde Valeria
authors.initials: MV
authors.lastname: Ursini
authors.forename: Claudio
authors.initials: C
authors.lastname: Pignata
mesh_terms: D001996:Bronchopneumonia / Q000276:immunology*; D002648:Child; D005260:Female; D006801:Humans; D007073:Immunoglobulin E / Q000097:blood*; D016130:Immunophenotyping; D053707:Receptors, Interleukin-12 / Q000172:deficiency*; D012008:Recurrence
chemical_list: D053707:Receptors, Interleukin-12; D007073:Immunoglobulin E