Seven chronic granulomatous disease cases in a single-center experience and a review of the literature

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Kutlug S., Sensoy G., Birinci A., Saraymen B., Köker M. Y., Yildiran A.

ASIAN PACIFIC JOURNAL OF ALLERGY AND IMMUNOLOGY, vol.36, no.1, pp.35-41, 2018 (SCI-Expanded) identifier identifier identifier

  • Publication Type: Article / Review
  • Volume: 36 Issue: 1
  • Publication Date: 2018
  • Doi Number: 10.12932/ap0859
  • Journal Name: ASIAN PACIFIC JOURNAL OF ALLERGY AND IMMUNOLOGY
  • Journal Indexes: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Page Numbers: pp.35-41
  • Keywords: Children, chronic granulomatous disease, invasive fungal disease, NADPH oxidase, primary immunodeficiency, MANAGEMENT, MUTATIONS, INFECTIONS, FAMILIES, COHORT
  • Erciyes University Affiliated: Yes

Abstract

Background: Chronic granuloniatous disease (CGD) is a rare primary immunodeficiency caused by defects in the nicotinamide adenine dinucleotide phosphate (NADPH) oxidase enzyme system. this disease causes the disordered functioning of phagocytic cells. It is characterized by life-threatening and/or recurrent infections by bacteria and fungi. CGD has both an X-linked recessive (X-CGD) and autosomal recessive (AR-CGD) phenotypes. AR form have four subtypes including defects with one of these NADPH oxidase components (p22, p40, p47 and p67(Phox)).