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Hyper-IgE recurrent infection syndrome 3, autosomal recessive
rareA rare hyper-IgE syndrome characterized by 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.
- Identifiers
- MONDO:0032654 OMIM:618282Orphanet:641368
- Causal genes
- ZNF341
- Part of
- Hyper-IgE syndrome
- Also known as
- AR-HIES due to ZNF341 deficiency · Autosomal recessive HIES due to ZNF341 deficiency · autosomal recessive hyper-IgE syndrome due to ZNF341 deficiency · Autosomal recessive hyperimmunoglobulin E syndrome due to zinc finger protein 341 deficiency · HIES3
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