Antibody deficiency in Rubinstein-Taybi syndrome

R Herriot, Z Miedzybrodzka

Research output: Contribution to journalArticlepeer-review

7 Citations (Scopus)
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The developmental disorder Rubinstein-Taybi syndrome (RTS) is frequently complicated by recurrent respiratory infections. In many cases this is likely to be the result of microaspiration or gastro-oesophageal reflux but, in a proportion, underlying antibody deficiency is a potentially modifiable susceptibility factor for infection. Relatively subtle, specific defects of pneumococcal antibody production have previously been described in the context of RTS. Here, we report a rare association between the syndrome and an overt, major primary antibody deficiency disorder (common variable immune deficiency) which was successfully managed with immunoglobulin replacement therapy. Early recognition and investigation for antibody deficiency associated with RTS allied to effective and optimized treatment are essential to minimize morbidity and mortality and improve quality and duration of life.

Original languageEnglish
Pages (from-to)355-358
Number of pages4
JournalClinical Genetics
Issue number3
Early online date28 Sept 2015
Publication statusPublished - Mar 2016

Bibliographical note

© 2015 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd.


  • antibody deficiency
  • immunoglobulin replacement therapy
  • Rubinstein-Taybi syndrome


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