Hyperimmunoglobulin-E Syndrome (HIES) in a Nigerian child: case report and review of literature

Abstract

Introduction: Hyperimmunoglobulin-E syndrome (HIES), also called Job's syndrome, has an autosomal dominant (AD-HIES) form caused by mutations in the STAT3 gene and autosomal recessive (AR-HIES) forms caused by mutations in the dedicator of cytokinesis 8 (DOCKS) tyrosine kinase 2 (TYK2) mutations or phosphoglucomutase 3 (PGM3) genes. Case: A 7-year-old boy presented with the classical triad of staphylococcal skin infections, recurrent sinopulmonary infections, and elevated IgE levels. He had characteristic facial and dental features, and a high National Institutes of Health HIES (NIH HIES) score suggestive of AD-HIES. His chest CT showed multiple abscess cavities in the lungs, and infection with Acinetobacter baumannii. Genetic testing was not available, and therefore not done to confirm diagnosis of HIES. He is presently on bacteria l and fungal prophylaxis and chest physiotherapy. Discussion: AD-HIES is a rare primary immune deficiency condition that presents with a plethora of dental, musculoskeletal and immunological features. Genetic testing aids in the diagnosis, but this is often not available in resource limited settings. The NIH HIES scoring system retains clinical utility and is very useful in resource poor settings to facilitate early diagnosis a n d prevention of pulmonary complications which are associate d with poor outcomes.