| autosomaal recessief hyperimmunoglobuline E-syndroom door deficiëntie van zinkvingereiwit 341 (aandoening) |
| autosomaal recessief hyperimmunoglobuline E-syndroom door deficiëntie van zinkvingereiwit 341 |
| autosomaal recessief HIES door ZNF341-deficiëntie
AR-HIES door ZNF341-deficiëntie
autosomaal recessief hyper-IgE-syndroom door ZNF341-deficiëntie
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| Autosomal recessive hyper-IgE syndrome due to ZNF341 deficiency |
| Autosomal recessive hyperimmunoglobulin E syndrome due to zinc finger protein 341 deficiency
AR-HIES (autosomal recessive hyperimmunoglobulin E syndrome) due to ZNF341 deficiency
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| A rare hyper-IgE syndrome with characteristics of atopic dermatitis (eczema), chronic mucocutaneous candidiasis, and elevated IgE levels due to ZNF341 deficiency. High plasma levels of IgG and low natural killer (NK) cell numbers are observed. Other major clinical features involve recurrent skin infections with skin abscesses and connective tissue abnormalities. Some patients may have recurrent lung infections. |
