Mutations in pyrin masquerading as a primary immunodeficiency

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.

Keywords: Familial Mediterranean fever; Primary immunodeficiency; Pyrin; Whole exome sequencing.