Title |
An update on the hyper-IgE syndromes
|
---|---|
Published in |
Arthritis Research & Therapy, November 2012
|
DOI | 10.1186/ar4069 |
Pubmed ID | |
Authors |
Patrick FK Yong, Alexandra F Freeman, Karin R Engelhardt, Steven Holland, Jennifer M Puck, Bodo Grimbacher |
Abstract |
ABSTRACT: The hyper-IgE syndromes (HIES; originally named Job's syndrome) are a collection of primary immunodeficiency syndromes resulting in elevated serum IgE levels and typified by recurrent staphylococcal skin abscesses, eczema and pulmonary infections. The disorder has autosomal dominant and recessive forms. Autosomal dominant HIES has been shown to be mainly due to STAT3 mutations and additionally results in connective tissue, skeletal, vascular and dental abnormalities. Autosomal recessive HIES has been shown to be mainly due to mutations in DOCK8; these patients are more prone to viral skin infections instead. This review article discusses the common clinical features of the syndrome, the genetic mutations responsible and the pathogenesis of the disease, as well as treatments currently used. |
X Demographics
Geographical breakdown
Country | Count | As % |
---|---|---|
Unknown | 2 | 100% |
Demographic breakdown
Type | Count | As % |
---|---|---|
Members of the public | 1 | 50% |
Practitioners (doctors, other healthcare professionals) | 1 | 50% |
Mendeley readers
Geographical breakdown
Country | Count | As % |
---|---|---|
Unknown | 126 | 100% |
Demographic breakdown
Readers by professional status | Count | As % |
---|---|---|
Student > Master | 16 | 13% |
Researcher | 15 | 12% |
Other | 13 | 10% |
Student > Postgraduate | 13 | 10% |
Student > Ph. D. Student | 12 | 10% |
Other | 29 | 23% |
Unknown | 28 | 22% |
Readers by discipline | Count | As % |
---|---|---|
Medicine and Dentistry | 67 | 53% |
Immunology and Microbiology | 10 | 8% |
Agricultural and Biological Sciences | 8 | 6% |
Biochemistry, Genetics and Molecular Biology | 5 | 4% |
Computer Science | 1 | <1% |
Other | 6 | 5% |
Unknown | 29 | 23% |