Hyper IgM syndrome presenting as chronic suppurative lung disease
<p>Abstract</p> <p>The Hyper-immunoglobulin M syndromes (HIGM) are a heterogeneous group of genetic disorders resulting in defects of immunoglobulin class switch recombination. Affected patients show humoral immunodeficiency and high susceptibility to opportunistic infections. Elev...
| Main Authors: | , , , , , , , , , , |
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| Format: | Article |
| Language: | English |
| Published: |
BMC
2012-09-01
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| Series: | Italian Journal of Pediatrics |
| Online Access: | http://www.ijponline.net/content/38/1/45 |
| _version_ | 1817994235315486720 |
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| author | Montella Silvia Maglione Marco Giardino Giuliana Di Giorgio Angela Palamaro Loredana Mirra Virginia Ursini Matilde Salerno Mariacarolina Pignata Claudio Caffarelli Carlo Santamaria Francesca |
| author_facet | Montella Silvia Maglione Marco Giardino Giuliana Di Giorgio Angela Palamaro Loredana Mirra Virginia Ursini Matilde Salerno Mariacarolina Pignata Claudio Caffarelli Carlo Santamaria Francesca |
| author_sort | Montella Silvia |
| collection | DOAJ |
| description | <p>Abstract</p> <p>The Hyper-immunoglobulin M syndromes (HIGM) are a heterogeneous group of genetic disorders resulting in defects of immunoglobulin class switch recombination. Affected patients show humoral immunodeficiency and high susceptibility to opportunistic infections. Elevated serum IgM levels are the hallmark of the disease, even though in few rare cases they may be in the normal range. Hyper IgM is associated with low to undetectable levels of serum IgG, IgA, and IgE. In some cases, alterations in different genes may be identified. Mutations in five genes have so far been associated to the disease, which can be inherited with an X-linked (CD40 ligand, and nuclear factor-kB essential modulator defects) or an autosomal recessive (CD40, activation-induced cytidine deaminase, and uracil-DNA glycosylase mutation) pattern<b>.</b> The patient herein described presented with recurrent upper and lower respiratory infections and evidence of suppurative lung disease at the conventional chest imaging. The presence of low serum IgG and IgA levels, elevated IgM levels, and a marked reduction of in vivo switched memory B cells led to a clinical and functional diagnosis of HIGM although the genetic cause was not identified.</p> |
| first_indexed | 2024-04-14T01:49:17Z |
| format | Article |
| id | doaj.art-fdc7aefb715f4dd1847e5681b7cd6313 |
| institution | Directory Open Access Journal |
| issn | 1720-8424 1824-7288 |
| language | English |
| last_indexed | 2024-04-14T01:49:17Z |
| publishDate | 2012-09-01 |
| publisher | BMC |
| record_format | Article |
| series | Italian Journal of Pediatrics |
| spelling | doaj.art-fdc7aefb715f4dd1847e5681b7cd63132022-12-22T02:19:24ZengBMCItalian Journal of Pediatrics1720-84241824-72882012-09-013814510.1186/1824-7288-38-45Hyper IgM syndrome presenting as chronic suppurative lung diseaseMontella SilviaMaglione MarcoGiardino GiulianaDi Giorgio AngelaPalamaro LoredanaMirra VirginiaUrsini MatildeSalerno MariacarolinaPignata ClaudioCaffarelli CarloSantamaria Francesca<p>Abstract</p> <p>The Hyper-immunoglobulin M syndromes (HIGM) are a heterogeneous group of genetic disorders resulting in defects of immunoglobulin class switch recombination. Affected patients show humoral immunodeficiency and high susceptibility to opportunistic infections. Elevated serum IgM levels are the hallmark of the disease, even though in few rare cases they may be in the normal range. Hyper IgM is associated with low to undetectable levels of serum IgG, IgA, and IgE. In some cases, alterations in different genes may be identified. Mutations in five genes have so far been associated to the disease, which can be inherited with an X-linked (CD40 ligand, and nuclear factor-kB essential modulator defects) or an autosomal recessive (CD40, activation-induced cytidine deaminase, and uracil-DNA glycosylase mutation) pattern<b>.</b> The patient herein described presented with recurrent upper and lower respiratory infections and evidence of suppurative lung disease at the conventional chest imaging. The presence of low serum IgG and IgA levels, elevated IgM levels, and a marked reduction of in vivo switched memory B cells led to a clinical and functional diagnosis of HIGM although the genetic cause was not identified.</p>http://www.ijponline.net/content/38/1/45 |
| spellingShingle | Montella Silvia Maglione Marco Giardino Giuliana Di Giorgio Angela Palamaro Loredana Mirra Virginia Ursini Matilde Salerno Mariacarolina Pignata Claudio Caffarelli Carlo Santamaria Francesca Hyper IgM syndrome presenting as chronic suppurative lung disease Italian Journal of Pediatrics |
| title | Hyper IgM syndrome presenting as chronic suppurative lung disease |
| title_full | Hyper IgM syndrome presenting as chronic suppurative lung disease |
| title_fullStr | Hyper IgM syndrome presenting as chronic suppurative lung disease |
| title_full_unstemmed | Hyper IgM syndrome presenting as chronic suppurative lung disease |
| title_short | Hyper IgM syndrome presenting as chronic suppurative lung disease |
| title_sort | hyper igm syndrome presenting as chronic suppurative lung disease |
| url | http://www.ijponline.net/content/38/1/45 |
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