Interleukin 12 receptor deficiency in a child with recurrent bronchopneumonia and very high IgE levels

• Main Authors: Palamaro Loredana (Author), Giardino Giuliana (Author), Santamaria Francesca (Author), Romano Rosa (Author), Fusco Anna (Author), Montella Silvia (Author), Salerno Mariacarolina (Author), Ursini Matilde (Author), Pignata Claudio (Author)
• Format: Book
• Published: BMC, 2012-09-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

Summary

<p>Abstract</p> <p>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 <it>Mycobacteria</it>. 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.</p>

Item Description

10.1186/1824-7288-38-46
1720-8424
1824-7288