Antibiotic Prophylaxis, Immunoglobulin Substitution and Supportive Measures Prevent Infections in MECP2 Duplication Syndrome : The Pediatric Infectious Disease Journal

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Immunology Reports

Antibiotic Prophylaxis, Immunoglobulin Substitution and Supportive Measures Prevent Infections in MECP2 Duplication Syndrome

Bauer, Michael MD*; Krüger, Renate MD*; Kölsch, Uwe MD; Unterwalder, Nadine MD; Meisel, Christian MD†,‡; Wahn, Volker MD*; von Bernuth, Horst MD*,†,‡,§

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The Pediatric Infectious Disease Journal 37(5):p 466-468, May 2018. | DOI: 10.1097/INF.0000000000001799

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.

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