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G450(P) Hyperimmunoglobuline e syndrome case presentation
  1. H El-Salheen,
  2. A Badi,
  3. I Matoug
  1. Paediatrics ID and Immunology, Benghazi Children Hospital, Benghazi, Libya

Abstract

Background Hyperimmunoglobuline E syndrome (HIES), also known as Job Syndrome, is a rare primary immuneodeficiency disorder characterised by recurrent eczema, skin abscesses, lung infections, eosinophilia and high serum level of IgE. Two forms of HIES have been described, type 1(Autosomal Dominant) and type 2 (Autosomal Recessive) which is more severe. These two forms share overlapping clinical and laboratory features. However, they also exhibit distinct clinical manifestations, courses and outcomes. This paper will present our experience with this rare disease in our new Immunology unit.

Methods Six cases were diagnosed between end 2008 to early 2014, depending on clinical features, laboratory and radiological evaluation.

Results Two cases of HIES presented before their second birthday and the other four before their fifth. Two cases were brothers. Male to female ratio was 2:1.

Each case initially presented with different chronic infections. All have coarse features, eczema, high IgE (>2500 iu/ml), high eosinophil count and recurrent oral thrush. Five of the six cases have onychomycosis. Three cases had extensive varicella eruption. Infections were treated according to the international guidelines. Chest x–ray showed lung cysts in two cases, three cases had no lung changes and one patient refused x–ray and any follow up. Echocardiogram was normal in five cases. Serum Immunoglobulins, T and B lymphocyte subset were normal for four cases. The other two cases, one of them showed low T helper cell and low CD4 percentage with normal total count, and the other case showed low natural killer cell CD56 percentage and high count CD19, CD4, CD8, CD3 with normal percentage. All cases were put on oral prophylactic Trimethoprim and regular follow up except one who refused (Figure 1).

Conclusion The rising awareness among junior doctors and early referral of cases with symptoms to suggest primary immunodeficiency disorders help to diagnose and treat cases of HIES (Job Syndrome) which used to be missed and arrived to hospital in serious or terminal state. The incidence rate of Job syndrome internationally is rare. Further studies are needed to estimate the incidence rate and prevalence in different areas of our country.

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