ARDS as presenting symptom in an infant with CD40L deficiency (Hyper-IgM syndrome Type 1)

Klin Padiatr. 2009 Sep;221(5):302-4. doi: 10.1055/s-0029-1192041. Epub 2009 Aug 25.

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.

Publication types

  • Case Reports

MeSH terms

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

Substances

  • CD40 Ligand