Severe atopy and allergy--rare hyper-IgE syndrome caused by the DOCK8 mutation as underlying condition
The DOCK8 hyperimmunoglobulin E syndrome is an autosomal recessive primary combined immunological deficiency. Severe atopic eczema having its onset in infancy, food allergies, chronic viral infections of the skin, and recurrent pneumonias are central symptoms. Serum IgE level is high and eosinophilia is found in the blood. In addition, abnormalities in the number and function of lymphocytes can be detected. The disease may be difficult to distinguish from severe allergic eczema and asthma. The diagnosis is made through a gene test. We describe a 13-year-old boy, whose disease was cured with allogenic stem cell transplantation.
| Medienart: |
Artikel |
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| Erscheinungsjahr: |
2015 |
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| Erschienen: |
2015 |
| Enthalten in: |
Zur Gesamtaufnahme - volume:131 |
|---|---|
| Enthalten in: |
Duodecim; laaketieteellinen aikakauskirja - 131(2015), 6 vom: 01., Seite 541-4 |
| Sprache: |
Finnisch |
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| Weiterer Titel: |
Taustalla harvinainen DOCK8-mutaation aiheuttama hyper-IgE-syndrooma. Vaikea atopia ja allergia |
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| Beteiligte Personen: |
Koskenvuo, Minna [VerfasserIn] |
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| Themen: |
37341-29-0 |
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| Anmerkungen: |
Date Completed 21.08.2015 Date Revised 04.08.2015 published: Print Citation Status MEDLINE |
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| Förderinstitution / Projekttitel: |
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| PPN (Katalog-ID): |
NLM25149005X |
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| 245 | 1 | 0 | |a Severe atopy and allergy--rare hyper-IgE syndrome caused by the DOCK8 mutation as underlying condition |
| 246 | 3 | 3 | |a Taustalla harvinainen DOCK8-mutaation aiheuttama hyper-IgE-syndrooma. Vaikea atopia ja allergia |
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| 500 | |a Date Revised 04.08.2015 | ||
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| 500 | |a Citation Status MEDLINE | ||
| 520 | |a The DOCK8 hyperimmunoglobulin E syndrome is an autosomal recessive primary combined immunological deficiency. Severe atopic eczema having its onset in infancy, food allergies, chronic viral infections of the skin, and recurrent pneumonias are central symptoms. Serum IgE level is high and eosinophilia is found in the blood. In addition, abnormalities in the number and function of lymphocytes can be detected. The disease may be difficult to distinguish from severe allergic eczema and asthma. The diagnosis is made through a gene test. We describe a 13-year-old boy, whose disease was cured with allogenic stem cell transplantation | ||
| 650 | 4 | |a Case Reports | |
| 650 | 4 | |a English Abstract | |
| 650 | 4 | |a Journal Article | |
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| 700 | 1 | |a Lähteenmäki, Päivi |e verfasserin |4 aut | |
| 700 | 1 | |a Ruuskanen, Olli |e verfasserin |4 aut | |
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