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Rubinstein–Taybi syndrome with humoral and cellular defects: a case report
  1. Anthony Villellaa,
  2. Dalia Bialostockyb,
  3. Eli Loria,
  4. Howard Meyersonc,
  5. Robert W Hostofferd
  1. aDepartment of Pediatrics, Rainbow Babies and Children's Hospital, Cleveland, Ohio, USA, bHospital infantil de Mexico “Federico Gomez”, Mexico City, Mexico, cDepartment of Pathology, University Hospital, Cleveland, Ohio, USA, d1611 South Green Road, South Euclid, Ohio 44121, USA
  1. Dr Hostoffer email:k.hostoffer{at}worldnet.att.net

Abstract

THE FIRST ASSOCIATION OF RUBINSTIEN Taybi syndrome with immunodeficiency and the successful prevention of infection with intravenous IgG is reported in a 4 year old boy. This case suggests that immunodeficiency maybe a prominent feature of this syndrome and may predispose these patients to recurrent infections.

  • Rubinstein–Taybi syndrome
  • immunodeficiency

https://doi.org/10.1136/adc.83.4.360

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