| CASE REPORT |
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| Year : 2018 | Volume
: 63
| Issue : 1 | Page : 79-81 |
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Autosomal-Recessive Hyper-IgE syndrome
Mohapatra Liza, Dash Gaurav, Mohanty Prasenjeet, Jena Swapna, Behera Binodini
Department of Skin and VD, SCB Medical College, Cuttack, Odisha, India
Correspondence Address:
Dr. Mohapatra Liza
Department of Skin and VD, SCB Medical College, Cuttack - 753 007, Odisha
India
 Source of Support: None, Conflict of Interest: None  | Check |
DOI: 10.4103/ijd.IJD_445_16
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The hyper-IgE syndrome (HIES) is a rare group of primary immunodeficiency characterised by recurrent infections, eczema, and elevated serum levels of IgE. Autosomal dominant HIES is caused by mutations in transcription factor – signal transducer and activator of transcription-3. Autosomal-recessive (AR) HIES was described in 2004 due to mutation of tyrosine kinase 2 gene, and subsequently, another mutation in dedicator of cytokinesis 8 gene was discovered in 2009. Although both the forms have many common clinical features, few characteristic findings help in differentiating them. AR-HIES is characterized by recurrent bacterial and viral infections, atopic eczema, and raised serum IgE levels. We report a case of a 4-year-old girl presenting with the features of AR-HIES to highlight the presentation of this rare disease.
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