SwePub
Sök i LIBRIS databas

  Extended search

WFRF:(Gallin John I.)
 

Search: WFRF:(Gallin John I.) > Hematologically imp...

  • 1 of 1
  • Previous record
  • Next record
  •    To hitlist
  • Roos, DirkAcademic Medical Center of University of Amsterdam (AMC) (author)

Hematologically important mutations : The autosomal forms of chronic granulomatous disease (third update)

  • Article/chapterEnglish2021

Publisher, publication year, extent ...

  • Elsevier BV,2021

Numbers

  • LIBRIS-ID:oai:lup.lub.lu.se:3b629163-d689-44cf-96b4-1c8c0eb26eb8
  • https://lup.lub.lu.se/record/3b629163-d689-44cf-96b4-1c8c0eb26eb8URI
  • https://doi.org/10.1016/j.bcmd.2021.102596DOI

Supplementary language notes

  • Language:English
  • Summary in:English

Part of subdatabase

Classification

  • Subject category:art swepub-publicationtype
  • Subject category:ref swepub-contenttype

Notes

  • Chronic granulomatous disease (CGD) is an immunodeficiency disorder affecting about 1 in 250,000 individuals. CGD patients suffer from severe, recurrent bacterial and fungal infections. The disease is caused by mutations in the genes encoding the components of the leukocyte NADPH oxidase. This enzyme produces superoxide, which is subsequently metabolized to hydrogen peroxide and other reactive oxygen species (ROS). These products are essential for intracellular killing of pathogens by phagocytic leukocytes (neutrophils, eosinophils, monocytes and macrophages). The leukocyte NADPH oxidase is composed of five subunits, four of which are encoded by autosomal genes. These are CYBA, encoding p22phox, NCF1, encoding p47phox, NCF2, encoding p67phox and NCF4, encoding p40phox. This article lists all mutations identified in these genes in CGD patients. In addition, cytochrome b558 chaperone-1 (CYBC1), recently recognized as an essential chaperone protein for the expression of the X-linked NADPH oxidase component gp91phox (also called Nox2), is encoded by the autosomal gene CYBC1. Mutations in this gene also lead to CGD. Finally, RAC2, a small GTPase of the Rho family, is needed for activation of the NADPH oxidase, and mutations in the RAC2 gene therefore also induce CGD-like symptoms. Mutations in these last two genes are also listed in this article.

Subject headings and genre

Added entries (persons, corporate bodies, meetings, titles ...)

  • van Leeuwen, KarinAcademic Medical Center of University of Amsterdam (AMC) (author)
  • Hsu, Amy P.National Institute of Allergy and Infectious Diseases (author)
  • Priel, Debra LongNational Cancer Institute at Frederick (author)
  • Begtrup, Amber (author)
  • Brandon, Rhonda (author)
  • Rawat, AmitPostgraduate Institute of Medical Education and Research (author)
  • Vignesh, PandiarajanPostgraduate Institute of Medical Education and Research (author)
  • Madkaikar, Manesha (author)
  • Stasia, Marie JoséUniversity Grenoble Alpes (author)
  • Bakri, Faris GhalibUniversity of Jordan (author)
  • de Boer, MartinAcademic Medical Center of University of Amsterdam (AMC) (author)
  • Roesler, Joachim (author)
  • Köker, Nezihe (author)
  • Köker, M. Yavuz (author)
  • Jakobsen, MarianneOdense University Hospital (author)
  • Bustamante, JacintaInstitut Gustave Roussy (author)
  • Garcia-Morato, Maria BravoUniversity Hospital La Paz (author)
  • Shephard, Juan Luis ValdiviesoUniversity Hospital La Paz (author)
  • Cagdas, DenizHacettepe University (author)
  • Tezcan, IlhanHacettepe University (author)
  • Sherkat, Roya (author)
  • Mortaz, Esmaeil (author)
  • Fayezi, AbbasAhvaz Jundishapur University of Medical Sciences (author)
  • Shahrooei, MohammadCatholic University of Leuven (author)
  • Wolach, BaruchMeir Medical Center (author)
  • Blancas-Galicia, LizbethNational Institute Of Pediatrics, Mexico (author)
  • Kanegane, Hirokazu (author)
  • Kawai, ToshinaoNational Center for Child Health and Development (author)
  • Condino-Neto, AntonioUniversity of São Paulo (author)
  • Vihinen, MaunoLund University,Lunds universitet,Proteinbioinformatik,Forskargrupper vid Lunds universitet,Protein Bioinformatics,Lund University Research Groups(Swepub:lu)med-mnv (author)
  • Zerbe, Christa S.National Institute of Allergy and Infectious Diseases (author)
  • Holland, Steven M.National Institute of Allergy and Infectious Diseases (author)
  • Malech, Harry L.National Institute of Allergy and Infectious Diseases (author)
  • Gallin, John I.National Institute of Allergy and Infectious Diseases (author)
  • Kuhns, Douglas B.National Cancer Institute at Frederick (author)
  • Academic Medical Center of University of Amsterdam (AMC)National Institute of Allergy and Infectious Diseases (creator_code:org_t)

Related titles

  • In:Blood Cells, Molecules, and Diseases: Elsevier BV921079-9796

Internet link

Find in a library

To the university's database

  • 1 of 1
  • Previous record
  • Next record
  •    To hitlist

Kungliga biblioteket hanterar dina personuppgifter i enlighet med EU:s dataskyddsförordning (2018), GDPR. Läs mer om hur det funkar här.
Så här hanterar KB dina uppgifter vid användning av denna tjänst.

 
pil uppåt Close

Copy and save the link in order to return to this view