Characterization of six novel mutations in CYBA: the gene causing autosomal recessive chronic granulomatous disease

British Journal of Haematology
Shahram TeimourianNima Parvaneh

Abstract

One of the rarest forms of chronic granulomatous disease (CGD) is caused by mutations in CYBA, which encodes the p22-phox subunit of the phagocyte NADPH oxidase, leading to defective intracellular killing. This study investigated eight patients (six males and two females) from seven consanguineous, unrelated families with clinical CGD, positive family history and p22-phox deficiency. Mutation analysis of CYBA showed six different novel mutations: deletion of exons 3, 4 and 5; a missense mutation in exon 6 (c.373G>A); a splice site mutation in intron 5 (c.369+1G>A); a frameshift in exon 6 (c.385delGAGC); a frameshift in exon 3 (c.174delG); and a frameshift in exon 4 (c.223delC).

Citations

Apr 1, 2009·Antioxidants & Redox Signaling·Brian GriffithVictor J Thannickal
Oct 8, 2013·Antioxidants & Redox Signaling·Karen BernardVictor J Thannickal
Apr 22, 2010·Journal of Clinical Immunology·Shahram TeimourianDirk Roos
Jul 25, 2009·European Journal of Clinical Investigation·M Y KökerD Roos
Sep 25, 2017·International Journal of Immunogenetics·M BadalzadehZ Pourpak
Apr 28, 2018·Journal of Pediatric Hematology/oncology·Shahram TeimourianAnna Isaian
Oct 12, 2018·Journal of Clinical Immunology·Hassan AbolhassaniAsghar Aghamohammadi
Jan 24, 2014·Expert Review of Clinical Immunology·Amir Hossein LatifLennart Hammarström
Jun 24, 2017·Middle East Journal of Digestive Diseases·Shahram Nemati, Shahram Teimourian
May 26, 2016·Journal of Clinical Immunology·Rabab El HawaryAisha Elmarsafy
Mar 25, 2019·International Archives of Allergy and Immunology·Esmaeil MortazIan M Adcock

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