title: Severe infantile Bordetella pertussis pneumonia in monozygotic twins with a congenital C3 deficiency.
abstract: Bordetella pertussis or whooping cough is a vaccine-preventable disease that still remains a serious infection in neonates and young infants. We describe two young infants, monozygotic twins, with a severe B. pertussis pneumonia of whom one needed extracorporeal membrane oxygenation. Diagnostic work-up of unexplained hematuria and proteinuria during the illness revealed low serum complement component 3 (C3) levels. During follow-up, C3 levels remained low (400-600 mg/L). Extensive analysis of the persistent low C3 levels revealed an unknown heterozygous mutation in the C3 gene in both siblings and their mother. This C3 mutation in combination with the specific virulence mechanisms of B. pertussis probably contributed to the severe disease course in these cases.
  
  
  CONCLUSIONS
  We propose that genetically caused complement disorders should be considered when confronted with severe cases of B. pertussis infection.
authors: Department of Pediatric Nephrology, Radboud University Medical Centre, P.O. Box 9101, 6500 HB, Nijmegen, The Netherlands, roel_kurvers@hotmail.com.
authors: Roel A J
authors: RA
authors: Kurvers
authors: Dineke
authors: D
authors: Westra
authors: Arno F
authors: AF
authors: van Heijst
authors: Twiggy L M
authors: TL
authors: Walk
authors: Adilia
authors: A
authors: Warris
authors: Nicole C A J
authors: NC
authors: van de Kar
mesh_terms: D003176:Complement C3 / Q000172:deficiency* / Q000235:genetics; D004200:Diseases in Twins / Q000175:diagnosis* / Q000235:genetics / Q000276:immunology; D005260:Female; D016368:Frameshift Mutation; D005819:Genetic Markers; D006579:Heterozygote; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D007234:Infant, Premature; D007235:Infant, Premature, Diseases / Q000175:diagnosis* / Q000235:genetics / Q000276:immunology; D018410:Pneumonia, Bacterial / Q000175:diagnosis* / Q000235:genetics / Q000276:immunology; D012720:Severity of Illness Index; D014430:Twins, Monozygotic / Q000235:genetics*; D014917:Whooping Cough / Q000175:diagnosis* / Q000235:genetics / Q000276:immunology
chemical_list: C038245:C3 protein, human; D003176:Complement C3; D005819:Genetic Markers
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