Volume 180, Number 2, 607-609, DOI: 10.1007/s11845-009-0398-1

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The Royal Academy of Medicine in Ireland

Cystic fibrosis, common variable immunodeficiency and Aspergers syndrome: an immunological and behavioural challenge

S. H. Chotirmall, T. B. Low, T. Hassan, P. Branagan, C. Kernekamp, M. G. Flynn, C. Gunaratnam and N. G. McElvaney

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Abstract

Introduction  

Cystic fibrosis (CF) is of particular importance in Ireland as the Irish population has both the highest incidence (2.98/10,000) and the highest carrier rate (1 in 19) in the world. Primary immunodeficiency has not been previously reported as co-existing with CF.

Case report  

We report a unique case of CF associated with a primary immunodeficiency syndrome—common variable immunodeficiency (CVID).

Discussion  

Our patient has CF, CVID and the additional comorbidity of Aspergers syndrome. The challenges inherent in diagnosing and treating such a case are outlined herein and the successful management of this case is evidenced by the well-preserved lung function of our patient.

Keywords  Cystic fibrosis – Immunodeficiency – Aspergers – Common variable immunodeficiency

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