Prenatal Diagnosis of Chronic Granulomatous Disease in a Male Fetus

Koker M. Y., Metin A., Ozgur T. T., De Boer M., Roos D.

IRANIAN JOURNAL OF ALLERGY ASTHMA AND IMMUNOLOGY, vol.8, pp.57-61, 2009 (SCI-Expanded) identifier identifier

  • Publication Type: Article / Article
  • Volume: 8
  • Publication Date: 2009
  • Journal Name: IRANIAN JOURNAL OF ALLERGY ASTHMA AND IMMUNOLOGY
  • Journal Indexes: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Page Numbers: pp.57-61
  • Erciyes University Affiliated: No

Abstract

Mutations in any of four known NADPH-oxidase components lead to CGD. X-linked CGD (X-CGD) is caused by defects in CYBB, the gene that encodes gp91-phox. Autosomal recessive (AR) CGD is caused by defects in the genes for p47 phox, p22-phox or p67-phox. The aim of this study was to screen the molecular defect in the fetus of an X-CGD carrier mother and postnatal confirmation of the results.