Autosomal dominant hyper-IgE syndrome

Disease Export to PDF
Name:
Autosomal dominant hyper-IgE syndrome
Description:
A very rare primary immunodeficiency disorder characterized by the clinical triad of high serum IgE (>2000 IU/ml), recurring staphylococcal skin abscesses, and recurrent pneumonia with formation of pneumatoceles.
ORPHAcode:
2314
Synonyms:
AD-HIES
Autosomal dominant HIES
Autosomal dominant hyperimmunoglobulin E syndrome
Buckley syndrome
Hyperimmunoglobulin E syndrome type 1
Hyperimmunoglobulin E-recurrent infection syndrome
Job syndrome
STAT3 deficiency
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Analyte(s):
Created:
13 May 2019 - 01:02
Changed:
22 Jun 2023 - 16:14