Mutations in pyrin masquerading as a primary immunodeficiency

descriptionPublicationkeyboard_double_arrow_right Article 01 Oct 2016 English Publisher:Elsevier BVJournal:Clinical Immunology, volume 171, pages 65-66 (issn: 1521-6616,

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Authors: Yousef R. Badran; Mariam Rajab; Rima Hanna-Wakim; Wayne Bainter; Brittney Cangemi; Michel J. Massaad; Ghassan Dbaibo; +2 Authors

doi: 10.1016/j.clim.2016.08.016

Mutations in pyrin masquerading as a primary immunodeficiency

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Abstract

Whole exome sequencing is increasingly used in the diagnosis of primary immunodeficiencies due to the overlapping and atypical presentations of these disorders. We report two patients who presented with recurrent infections and early onset colitis. They were investigated by whole exome sequencing due to suspicion of primary immunodeficiency and found to have mutations in pyrin known to cause familial Mediterranean fever.

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