title: ARDS as presenting symptom in an infant with CD40L deficiency (Hyper-IgM syndrome Type 1).
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.
authors.affiliation: Department of Neonatology and Pediatric Intensive Care, Asklepios Klinik St. Augustin, Germany. c.fremerey@asklepios.com
authors.forename: C
authors.initials: C
authors.lastname: Fremerey
authors.forename: B
authors.initials: B
authors.lastname: Wiebe
authors.forename: O
authors.initials: O
authors.lastname: Feyen
authors.forename: C
authors.initials: C
authors.lastname: Lenski
authors.forename: U
authors.initials: U
authors.lastname: Pohlmann
authors.forename: M
authors.initials: M
authors.lastname: Ehlen
authors.forename: O
authors.initials: O
authors.lastname: Schofer
authors.forename: A
authors.initials: A
authors.lastname: Meindl
authors.forename: T
authors.initials: T
authors.lastname: Niehues
authors.forename: P
authors.initials: P
authors.lastname: Bartmann
mesh_terms: D000465:Algorithms; D023201:CD40 Ligand / Q000172:deficiency* / Q000235:genetics*; D003422:Critical Care / Q000379:methods; D003586:Cytomegalovirus Infections / Q000175:diagnosis* / Q000235:genetics / Q000628:therapy; D004252:DNA Mutational Analysis; D003937:Diagnosis, Differential; D005091:Exons; D006801:Humans; D053307:Hyper-IgM Immunodeficiency Syndrome, Type 1 / Q000175:diagnosis* / Q000235:genetics / Q000628:therapy; D007223:Infant; D008297:Male; D009894:Opportunistic Infections / Q000175:diagnosis* / Q000235:genetics / Q000628:therapy; D012128:Respiratory Distress Syndrome / Q000175:diagnosis*; D018357:Respiratory Syncytial Virus Infections / Q000175:diagnosis* / Q000235:genetics / Q000628:therapy
chemical_list: D023201:CD40 Ligand