Hematologically important mutations: X-linked chronic granulomatous disease (fourth update)

Roos D., Van Leeuwen K., Hsu A. P., Priel D. L., Begtrup A., Brandon R., ...Daha Fazla

BLOOD CELLS MOLECULES AND DISEASES, cilt.90, 2021 (SCI-Expanded) identifier identifier identifier

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 90
  • Basım Tarihi: 2021
  • Doi Numarası: 10.1016/j.bcmd.2021.102587
  • Dergi Adı: BLOOD CELLS MOLECULES AND DISEASES
  • Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus, Academic Search Premier, BIOSIS, EMBASE, MEDLINE
  • Anahtar Kelimeler: gp91(phox), Chronic granulomatous disease, Mutation, CYBB, G6PD, NADPH oxidase, X-linked disease, STEM-CELL TRANSPLANTATION, CHRONIC NONSPHEROCYTIC ANEMIA, SINGLE-CENTER EXPERIENCE, GENETIC-ANALYSIS, CYBB GENE, PRIMARY IMMUNODEFICIENCY, INCREASED SUSCEPTIBILITY, FLOW-CYTOMETRY, HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, GRANULOCYTE DYSFUNCTION
  • Erciyes Üniversitesi Adresli: Evet

Özet

Chronic granulomatous disease (CGD) is an immunodeficiency disorder affecting about 1 in 250,000 individuals. CGD patients suffer from severe bacterial and fungal infections. The disease is caused by a lack of superoxide production by the leukocyte enzyme NADPH oxidase. Superoxide and subsequently formed other reactive oxygen species (ROS) are instrumental in killing phagocytosed micro-organisms in neutrophils, eosinophils, monocytes and macrophages. The leukocyte NADPH oxidase is composed of five subunits, of which the enzymatic component is gp91(phox), also called Nox2. This protein is encoded by the CYBB gene on the X chromosome. Mutations in this gene are found in about 70% of all CGD patients in Europe and in about 20% in countries with a high ratio of parental consanguinity. This article lists all mutations identified in CYBB and should therefore help in genetic counseling of X-CGD patients' families. Moreover, apparently benign polymorphisms in CYBB are also given, which should facilitate the recognition of disease-causing mutations. In addition, we also include some mutations in G6PD, the gene on the X chromosome that encodes glucose-6-phosphate dehydrogenase, because inactivity of this enzyme may lead to shortage of NADPH and thus to insufficient activity of NADPH oxidase. Severe G6PD deficiency can induce CGD-like symptoms.