Publication:

Hyper IgE syndrome: often a missed diagnosis

The hyper immunoglobulin E syndromes (HIES) are a group of primary immunodeficiency manifesting with very high levels of serum immunoglobulin E (IgE), recurrent skin abscesses, pulmonary infections, neonatal onset dermatitis and a myriad of connective tissue, vascular and skeletal abnormalities. The diagnosis of HIES relies on a combination of clinical features and laboratory studies. Heterogeneous manifestations of HIES mimics common infections prevalent in tropical areas and results in delayed diagnosis. Primary goal of treatment lies in prevention of infections with prophylactic antibiotics. We report a 6 year old boy symptomatic since early infancy with recurrent respiratory problems, rash, organomegaly, suppurative generalised lymphadenopathy. He was misdiagnosed as tuberculosis twice. Following extensive investigations, infectious causes for such manifestations were ruled out and the final diagnosis of possible HIES was made as genetic studies could not be done. He remained relatively asymptomatic on antibacterial and antifungal prophylaxis during subsequent follow up for 2 years.