Prenatal Diagnosis of Chronic Granulomatous Disease in a Male Fetus

KÖKER M. Y., Metin A., Ozgur T. T., de Boer M., Roos D.

IRANIAN JOURNAL OF ALLERGY ASTHMA AND IMMUNOLOGY, cilt.8, sa.1, ss.57-61, 2009 (SCI-Expanded) identifier identifier identifier

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 8 Sayı: 1
  • Basım Tarihi: 2009
  • Dergi Adı: IRANIAN JOURNAL OF ALLERGY ASTHMA AND IMMUNOLOGY
  • Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Sayfa Sayıları: ss.57-61
  • Hacettepe Üniversitesi Adresli: Evet

Özet

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.