P3 Hyperig e syndrome with reccurent viral infections – suggestive for primary immunodeficiency

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Abstract

Introduction

Elevated immunoglobulin E (IgE) blood values are usually associated with allergic phenomenas such as asthma, dermatitis, parasitosis. But hyper-IgE in a patient presenting eczema, asthma associated with recurrent upper and lower respiratory tract infections, should raise the question of an underlying immunodeficiency.

Case presentation

A 11 year old boy with a long history of asthma with multiple skin and respiratory tract infections of bacterial, viral and fungal aetiology that started in early childhood is adressed to our hospital. Clinical examination revealed the following: hypo- and hyperpigmented facial lesions, eczema, hand warts, severe oral candidiasis, productive cough, inspiratory dyspnoea and severe dysphonia. Preliminary blood investigations showed lymphopenia, eosinophilia (1500/mm3), very elevated IgE values (>2500 IU/ml) and hypogammaglobulinemia (Ig G 5,54 g/L). The indirect videolaringoscopy showed juvenile laryngeal papillomatosis. All these findings suggested an underlying cause, a primary immunodeficiency. The clinical and laboratory aspects of DOCK8 deficiency and Job’s syndrome are overlapping but distinct. The absence of connective tissue and skeletal abnormalities (scoliosis, hyperextensibility, pathologic fractures, retained primary dentition, craniosynostosis) helped distinguish between these two rare syndromes. The latter has been confirmed by the absence of protein DOCK8. Management of DOCK8 immunodeficiency includes prophylactic antibiotic, antifungal, and antiviral therapy. In view of the high risk of early death from opportunistic infection or malignancy, stem cell transplantation is considered to be the curative treatment.

Conclusions

Any hyper-IgE syndrome in children presenting reccurent viral skin infections should raise concerns regarding an underlying cause, such as a primary immunodeficiency. The importance of stable long-term relationships with a dermatologist and a paediatrician who work closely together cannot be overemphasised. The diagnosis must be obtained as early as possible, bone marrow transplantation being the unique curative treatment.

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