RESPIRATORY DISTRESS, PERSISTENT ORAL CANDIDIASIS, DRAINING KERION, SKIN ABSCESSES, AND ONYCHOMYCOSIS IN A 3-YEAR-OLD MALE

Abstract

Introduction We report a case of a 3-year-old Latino male who was seen over three years with three hospitalizations for Respiratory Distress. An initial immunodeficiency work-up was essentially normal. Despite a history of respiratory distress and respiratory allergy, the patient required further investigation into his immune system when he was noted to have four significant infections. Case Description A 9 months old male presented to the Pediatric Allergy clinic with stridor for management of his food allergies and eczema. His family and his birth histories were noncontributory. He was admitted for respiratory distress and underwent flexible bronchoscopy that was consistent with laryngomalacia. Bronchoalveolar lavage was positive for Moraxella Catarrhalis. His severe oral thrush prompted an immunology work up that was unyielding, including any T cell abnormality. At 21 months of age he was hospitalized with respiratory failure secondary to laryngomalacia. Respiratory cultures were positive for Pseudomonas and Staph Aureus. Lost to outpatient follow up, he was in the Pediatric Intensive Care Unit at two years of age for evaluation for Epiglottitis. He was noted on this hospital stay to have problems with his integument including oral thrush, occipital kerion, and onychomycosis. His symptoms progressed to skin abscesses. Discussion With his persistent oral candidiasis, onychomycosis, and abscesses it was imperative to characterize his evolving immunodeficiency. The evaluation was elucidated with a low Th 17 enumeration. He was found to have a heterozygous missense mutation in STAT3 consistent with the National Institutes of Health scoring system diagnosis of Autosomal Dominant Hyper IgE syndrome.