Interleukin 12 receptor deficiency in a child with recurrent bronchopneumonia and very high IgE levels
<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 defe...
| Main Authors: | , , , , , , , , |
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| Format: | Article |
| Language: | English |
| Published: |
BMC
2012-09-01
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| Series: | Italian Journal of Pediatrics |
| Subjects: | |
| Online Access: | http://www.ijponline.net/content/38/1/46 |
| _version_ | 1811297574833881088 |
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| author | Palamaro Loredana Giardino Giuliana Santamaria Francesca Romano Rosa Fusco Anna Montella Silvia Salerno Mariacarolina Ursini Matilde Pignata Claudio |
| author_facet | Palamaro Loredana Giardino Giuliana Santamaria Francesca Romano Rosa Fusco Anna Montella Silvia Salerno Mariacarolina Ursini Matilde Pignata Claudio |
| author_sort | Palamaro Loredana |
| collection | DOAJ |
| description | <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> |
| first_indexed | 2024-04-13T06:06:26Z |
| format | Article |
| id | doaj.art-c8cf7485ce8d4761a9c81a75354b3b22 |
| institution | Directory Open Access Journal |
| issn | 1720-8424 1824-7288 |
| language | English |
| last_indexed | 2024-04-13T06:06:26Z |
| publishDate | 2012-09-01 |
| publisher | BMC |
| record_format | Article |
| series | Italian Journal of Pediatrics |
| spelling | doaj.art-c8cf7485ce8d4761a9c81a75354b3b222022-12-22T02:59:15ZengBMCItalian Journal of Pediatrics1720-84241824-72882012-09-013814610.1186/1824-7288-38-46Interleukin 12 receptor deficiency in a child with recurrent bronchopneumonia and very high IgE levelsPalamaro LoredanaGiardino GiulianaSantamaria FrancescaRomano RosaFusco AnnaMontella SilviaSalerno MariacarolinaUrsini MatildePignata Claudio<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>http://www.ijponline.net/content/38/1/46ImmunodeficiencyIL-12/IL-12 receptorRecurrent pneumonia |
| spellingShingle | Palamaro Loredana Giardino Giuliana Santamaria Francesca Romano Rosa Fusco Anna Montella Silvia Salerno Mariacarolina Ursini Matilde Pignata Claudio Interleukin 12 receptor deficiency in a child with recurrent bronchopneumonia and very high IgE levels Italian Journal of Pediatrics Immunodeficiency IL-12/IL-12 receptor Recurrent pneumonia |
| title | Interleukin 12 receptor deficiency in a child with recurrent bronchopneumonia and very high IgE levels |
| title_full | Interleukin 12 receptor deficiency in a child with recurrent bronchopneumonia and very high IgE levels |
| title_fullStr | Interleukin 12 receptor deficiency in a child with recurrent bronchopneumonia and very high IgE levels |
| title_full_unstemmed | Interleukin 12 receptor deficiency in a child with recurrent bronchopneumonia and very high IgE levels |
| title_short | Interleukin 12 receptor deficiency in a child with recurrent bronchopneumonia and very high IgE levels |
| title_sort | interleukin 12 receptor deficiency in a child with recurrent bronchopneumonia and very high ige levels |
| topic | Immunodeficiency IL-12/IL-12 receptor Recurrent pneumonia |
| url | http://www.ijponline.net/content/38/1/46 |
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