Abstrakti
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 (DOCK8) 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 bacterial 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 and prevention of pulmonary complications which are associated with poor outcomes.
Keywords: Hyperimmunoglobulin-E, Job’s syndrome, Nigerian, Child
Résumé
Introduction: Lesyndrome d’hyper-immunoglobulineE (SHIE), aussi appelé syndrome de Job, présente une forme autosomique dominante (AD-SHIE) causée par des mutations du gène STAT3 et des formes autosomiques récessives (ARSHIE) causées par des mutations dans le dédicateur de la cytokinèse 8 (DOCK8) mutations de la tyrosine kinase 2 (TYK2) ougènes de laphosphoglucomutase3 (PGM3).
Cas: Un garçon de 7 ans s’est présenté avec la triade classique d’infections cutanées à staphylocoques, d’infections sino-pulmonaires récurrentes et de taux élevés d’IgE. Il présentait des caractéristiques faciales et dentaires et un score élevé de l’Institut National de Santé INS (INS SHIE) suggérant ADSHIE. Le scanner thoracique présentait de multiples cavités d’abcès dans les poumons et une infection à Acinetobacter baumannii .Les tests génétiques n’étaient pas disponibles et n’ont donc pas été effectués pour confirmer le diagnostic du SHIE. Il suit actuellement une prophylaxie bactérienne et fongique et une physiothérapie pulmonaire.
Discussion: AD-SHIE est une rare condition de déficit immunitaire primaire qui présente une pléthore de caractéristiques dentaires, musculo-squelettiques et immunologiques. Le test génétique facilite le diagnostic, mais ceci n’est souvent pas disponible dans les contextes où les ressources sont limitées. Le système de notation INS SHIE conserve son utilité clinique et est très utile dans les environnements à ressources limitées pour faciliter le diagnostic précoce et la prévention des complications pulmonaires qui sont associées à des résultats médiocres.
Mots - clés: Hyper-immunoglobuline E, Syndrome de Job, Nigérian, Enfant
Correspondence: Dr. B.O. Ogunbosi, Department of Paediatrics, Faculty of Clinical Sciences, College of Medicine, University of Ibadan. Ibadan, Nigeria. E-mail: tundeogunbosi@yahoo.com
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