Antibiotic Prophylaxis, Immunoglobulin Substitution and Supportive Measures Prevent Infections in MECP2 Duplication Syndrome. Issue 5 (May 2018)

• Record Type: Journal Article
• Authors: Bauer, Michael; Krüger, Renate; Kölsch, Uwe; Unterwalder, Nadine; Meisel, Christian; Wahn, Volker; von Bernuth, Horst
• Is Part Of: Pediatric infectious disease journal. Volume 37:Issue 5(2018)
• Publication Date: 2018-05
• Subjects: Xq28-duplication syndrome -- MECP2 duplication syndrome -- primary immunodeficiency -- intellectual disability -- humoral immunodeficiency; Communicable diseases in children -- Periodicals; Infection in children -- Periodicals; 618.929
• DOI: 10.1097/INF.0000000000001799
• Languages: English
• ISSNs: 0891-3668

Abstract

Abstract : Respiratory infections are the main cause of early death in patients with MECP2 duplication syndrome. We report on a 20-year-old patient with MECP2 duplication syndrome, IgG2/IgG4/IgA/IgM deficiency and polysaccharide-specific antibody deficiency, who had 46 episodes of pneumonia in his first 13 8/12 years of life. Immunoglobulin substitution, daily antibiotic prophylaxis with two agents and supportive measures reduced occurrence of pneumonia to four episodes in the following 6 2/12 years of life.