Hyper IgE syndrom - další z primárních imunodeficitů, u něhož byla poznána genetická podstata
| Title in English | Hyper IgE syndrome - another primary immunodeficiency with resolved genetic cause |
|---|---|
| Authors | |
| Year of publication | 2008 |
| Type | Article in Periodical |
| Magazine / Source | Alergie |
| MU Faculty or unit | |
| Citation | |
| Field | Immunology |
| Keywords | primary immunodeficiency; hyper IgE syndrome; STAT3 |
| Description | Hyper-IgE syndrome is a complex multisystem disease affecting predominantly immune and musculoskeletal systems, also dental abnormalities are frequent. Immune system disturbances manifest by dermatitis resembling atopic eczema, and recurrent and severe infections affecting skin and respiratory system. Musculoskeletal abnormalities include abnormal face with coarse appearance, pathological fractures, joint hyperextensibility and scoliosis. High serum IgE levels and eosinophilia comprise typical laboratory signs. STAT3 mutations were recently recognized as a genetic cause of the disease. |