Title |
Interleukin 12 receptor deficiency in a child with recurrent bronchopneumonia and very high IgE levels
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Published in |
Italian Journal of Pediatrics, September 2012
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DOI | 10.1186/1824-7288-38-46 |
Pubmed ID | |
Authors |
Loredana Palamaro, Giuliana Giardino, Francesca Santamaria, Rosa Romano, Anna Fusco, Silvia Montella, Mariacarolina Salerno, Matilde Valeria Ursini, Claudio Pignata |
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. |
X Demographics
Geographical breakdown
Country | Count | As % |
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Unknown | 1 | 100% |
Demographic breakdown
Type | Count | As % |
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Members of the public | 1 | 100% |
Mendeley readers
Geographical breakdown
Country | Count | As % |
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Unknown | 17 | 100% |
Demographic breakdown
Readers by professional status | Count | As % |
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Researcher | 4 | 24% |
Professor | 3 | 18% |
Lecturer | 2 | 12% |
Student > Bachelor | 2 | 12% |
Unspecified | 1 | 6% |
Other | 3 | 18% |
Unknown | 2 | 12% |
Readers by discipline | Count | As % |
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Biochemistry, Genetics and Molecular Biology | 4 | 24% |
Medicine and Dentistry | 3 | 18% |
Agricultural and Biological Sciences | 2 | 12% |
Immunology and Microbiology | 2 | 12% |
Nursing and Health Professions | 1 | 6% |
Other | 2 | 12% |
Unknown | 3 | 18% |