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.
MeSH terms
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Algorithms
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CD40 Ligand / deficiency*
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CD40 Ligand / genetics*
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Critical Care / methods
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Cytomegalovirus Infections / diagnosis*
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Cytomegalovirus Infections / genetics
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Cytomegalovirus Infections / therapy
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DNA Mutational Analysis
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Diagnosis, Differential
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Exons
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Humans
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Hyper-IgM Immunodeficiency Syndrome, Type 1 / diagnosis*
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Hyper-IgM Immunodeficiency Syndrome, Type 1 / genetics
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Hyper-IgM Immunodeficiency Syndrome, Type 1 / therapy
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Infant
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Male
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Opportunistic Infections / diagnosis*
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Opportunistic Infections / genetics
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Opportunistic Infections / therapy
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Respiratory Distress Syndrome / diagnosis*
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Respiratory Syncytial Virus Infections / diagnosis*
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Respiratory Syncytial Virus Infections / genetics
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Respiratory Syncytial Virus Infections / therapy