Iranian Journal of Allergy, Asthma and Immunology (Oct 2016)

A Novel CYBB Mutation in Chronic Granulomatous Disease in Iran

  • Shaghayegh Tajik,
  • Mohsen Badalzadeh,
  • Mohammad Reza Fazlollahi,
  • Massoud Houshmand,
  • Fariborz Zandieh,
  • Shamim Khandan,
  • Zahra Pourpak

Journal volume & issue
Vol. 15, no. 5

Abstract

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Chronic granulomatous disease (CGD) is a rare primary immunodeficiency disorder due to a genetic defect in one of the components of nicotinamide adenine dinucleotide phosphate (NADPH) oxidase complex. This complex is composed of membrane-bound gp91-phox and p22-phox subunits, and cytosolic subunits consisting of p47-phox, p67-phox, and p40-phox. A mutation in CYBB gene encoding gp91-phox located on chromosome Xp21.1, leads to X-linked CGD. Herein, we report a 4-year-old Iranian boy presented with episodes of recurrent fever, cervical lymphadenopathy, and abdominal abscesses. Mutation analysis of the CYBB gene in the patient indicated a one-nucleotide deletion, c.316delT, resulting in p.W106GfsX.

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