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Published on: December 15, 2011
ARDS as presenting symptom in an infant with CD40L deficiency (Hyper-IgM syndrome Type 1)
1Department of Neonatology and Pediatric Intensive Care, Asklepios Klinik St. Augustin, Germany. c.fremerey@asklepios.com
Abstract:
We report on a 4 month old male infant with respiratory syncytial virus (RSV) infection leading to acute respiratory distress syndrome (ARDS). A diagnostic algorithm including extended infectiological and immunological work-up revealed absence of CD40-ligand. ARDS was treated successfully with a complex respiratory therapy plus intravenous immunoglobulin substitution. Molecular analysis detected mutations in the CD40L gene (Hyper-IgM syndrome Type 1). The case underlines the importance of an extended diagnostic work-up in an uncommonly severe course of respiratory infection in early infancy.
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