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10.4103/ijd.IJD_445_16

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suck abstract from ncbi


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pmid29527033
      Indian+J+Dermatol 2018 ; 63 (1 ): 79-81
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  • Autosomal-Recessive Hyper-IgE Syndrome #MMPMID29527033
  • Liza M ; Gaurav D ; Prasenjeet M ; Swapna J ; Binodini B
  • Indian J Dermatol 2018[Jan]; 63 (1 ): 79-81 PMID29527033 show ga
  • 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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