Mutations in pyrin masquerading as a primary immunodeficiency

Mutations in pyrin masquerading as a primary immunodeficiency

Copyright © 2016 Elsevier Inc. All rights reserved.

Bibliographische Detailangaben
Veröffentlicht in:Clinical immunology (Orlando, Fla.). - 1999. - 171(2016) vom: 07. Okt., Seite 65-66
1. Verfasser: Badran, Yousef R (VerfasserIn)
Weitere Verfasser: Rajab, Mariam, Hanna-Wakim, Rima, Bainter, Wayne, Cangemi, Brittney, Massaad, Michel J, Dbaibo, Ghassan, Geha, Raif S, Chou, Janet
Format: Online-Aufsatz
Sprache:English
Veröffentlicht: 2016
Zugriff auf das übergeordnete Werk:Clinical immunology (Orlando, Fla.)
Schlagworte:Case Reports Letter Familial Mediterranean fever Primary immunodeficiency Pyrin Whole exome sequencing
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520 |a 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 
650 4 |a Case Reports 
650 4 |a Letter 
650 4 |a Familial Mediterranean fever 
650 4 |a Primary immunodeficiency 
650 4 |a Pyrin 
650 4 |a Whole exome sequencing 
650 7 |a Pyrin  |2 NLM 
700 1 |a Rajab, Mariam  |e verfasserin  |4 aut 
700 1 |a Hanna-Wakim, Rima  |e verfasserin  |4 aut 
700 1 |a Bainter, Wayne  |e verfasserin  |4 aut 
700 1 |a Cangemi, Brittney  |e verfasserin  |4 aut 
700 1 |a Massaad, Michel J  |e verfasserin  |4 aut 
700 1 |a Dbaibo, Ghassan  |e verfasserin  |4 aut 
700 1 |a Geha, Raif S  |e verfasserin  |4 aut 
700 1 |a Chou, Janet  |e verfasserin  |4 aut 
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