Absent uvula and thrombocytopenia in an African infant with job's syndrome: Case report and review of literature

Abstract

Job’s syndrome, a subset of the Hyper-immunoglobulin E (IgE) recurrent Infection Syndrome (HIES), is a rare primary immunodeficiency disorder characterized by a classic clinical triad of recurrent staphylococcal abscesses, recurrent cyst-forming pneumonia, and markedly elevated serum IgE level. To date, slightly more than 200 cases have been published worldwide. Here we review HIES and report one case of Job’s syndrome seen in an indigenous African infant at the University Teaching Hospital, Lusaka, Zambia, who presented with recurrent mandibular abscesses, pneumonia, Pseudomonas aeruginosa otitis media, markedly raised serum immunoglobulin E (IgE), thrombocytopenia and dysmorphic features (high-arched palate and absent uvula). Key words: Absent uvula, Job’s syndrome, thrombocytopaenia.