title: 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.
authors.affiliation: Division of Immunology, Children's Hospital and Department of Pediatrics, Harvard Medical School, Boston, MA, USA.
authors.forename: Yousef R
authors.initials: YR
authors.lastname: Badran
authors.affiliation: Department of Pediatrics, Makassed General Hospital, Beirut, Lebanon.
authors.forename: Mariam
authors.initials: M
authors.lastname: Rajab
authors.affiliation: Department of Pediatrics and Adolescent Medicine, American University of Beirut, Beirut, Lebanon.
authors.forename: Rima
authors.initials: R
authors.lastname: Hanna-Wakim
authors.affiliation: Division of Immunology, Children's Hospital and Department of Pediatrics, Harvard Medical School, Boston, MA, USA.
authors.forename: Wayne
authors.initials: W
authors.lastname: Bainter
authors.affiliation: Division of Immunology, Children's Hospital and Department of Pediatrics, Harvard Medical School, Boston, MA, USA.
authors.forename: Brittney
authors.initials: B
authors.lastname: Cangemi
authors.affiliation: Division of Immunology, Children's Hospital and Department of Pediatrics, Harvard Medical School, Boston, MA, USA.
authors.forename: Michel J
authors.initials: MJ
authors.lastname: Massaad
authors.affiliation: Department of Pediatrics and Adolescent Medicine, American University of Beirut, Beirut, Lebanon.
authors.forename: Ghassan
authors.initials: G
authors.lastname: Dbaibo
authors.affiliation: Division of Immunology, Children's Hospital and Department of Pediatrics, Harvard Medical School, Boston, MA, USA. Electronic address: raif.geha@childrens.harvard.edu.
authors.forename: Raif S
authors.initials: RS
authors.lastname: Geha
authors.affiliation: Division of Immunology, Children's Hospital and Department of Pediatrics, Harvard Medical School, Boston, MA, USA.
authors.forename: Janet
authors.initials: J
authors.lastname: Chou
mesh_terms: D002675:Child, Preschool; D003092:Colitis / Q000175:diagnosis / Q000235:genetics*; D003241:Consanguinity; D003937:Diagnosis, Differential; D010505:Familial Mediterranean Fever / Q000175:diagnosis / Q000235:genetics*; D005260:Female; D006801:Humans; D007153:Immunologic Deficiency Syndromes / Q000175:diagnosis / Q000235:genetics*; D007223:Infant; D008297:Male; D009154:Mutation; D000071198:Pyrin / Q000235:genetics*
chemical_list: D000071198:Pyrin
keywords: Familial Mediterranean fever; Primary immunodeficiency; Pyrin; Whole exome sequencing