oa Current Allergy & Clinical Immunology - A rare case of hyper ige syndrome : case study

Volume 29, Issue 1
  • ISSN : 1609-3607



This is the story of an eight-year, 10-month-old girl, who presented to the Paediatric Service at the Red Cross War Memorial Children's Hospital at the age of 20 months with a history of eczema since birth, recurrent superficial and deep-seated skin infections, and multiple severe viral and bacterial pneumonias. Laboratory analysis displayed a persistent eosinophilia, significantly elevated serum total IgE and evidence of food-specific IgE mediated sensitisations. Genetic studies for mutations and deletions in the STAT3, DOCK8 and Tyk2 gene for Hyper IgE syndrome were negative. Currently, she has interstitial lung disease with features of reversible lower airway obstruction, primary immunodeficiency with abnormal immunoglobulin levels, low vaccine responses and recurrent infections. She is on maximal therapy for her asthma and receiving intravenous immunoglobulin monthly, and Omalizumab injections fortnightly. A good clinical response has been achieved since these latter two therapies were started.

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