Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

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

Blood cells, molecules & diseases - 15 Oct 2010

Roos Dirk, Kuhns Douglas B, Maddalena Anne, Roesler Joachim, Lopez Juan Alvaro, Ariga Tadashi, Avcin Tadej, de Boer Martin, Bustamante Jacinta, Condino-Neto Antonio, Di Matteo Gigliola, He Jianxin, Hill Harry R, Holland Steven M, Kannengiesser Caroline, Köker M Yavuz, Kondratenko Irina, van Leeuwen Karin, Malech Harry L, Marodi László, Nunoi Hiroyuki, Stasia Marie-José, Ventura Anna Maria, Witwer Carl T, Wolach Baruch, Gallin John I

Abstract excerpt

Chronic granulomatous disease (CGD) is an immunodeficiency disorder affecting about 1 in 250,000 individuals. The disease is caused by a lack of superoxide production by the leukocyte enzyme NADPH oxidase. Superoxide is used to kill phagocytosed micro-organisms in neutrophils, eosinophils, monocy...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Chromosomes, Human, X
Share to CYBB gene

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Granulomatous Disease, Chronic

Share to Membrane Glycoproteins

Share to Mutation

Share to NADPH Oxidase 2

Share to NADPH Oxidases

Share to Superoxides

Source

Open in PubMed Open full text

Identifiers

PMID: 20729109
DOI: 10.1016/j.bcmd.2010.07.012
PMCID: PMC4360070

Genes

CYBB

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-20729109-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 2 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Hematologically important mutations: X-linked chronic granulomatous disease (third update).PMID 20729109Read ↗

Hematologically important mutations: X-linked chronic granulomatous disease (fourth update).Semantic proximity Read ↗

Hematologically important mutations: The autosomal forms of chronic granulomatous disease (third update).Semantic proximity Read ↗

Hematologically important mutations: the autosomal recessive forms of chronic granulomatous disease (second update).Semantic proximity Read ↗

Novel mutations in CYBB Gene Cause X-linked chronic Granulomatous Disease in Pakistani patients.Semantic proximity Read ↗

Genetic and biochemical background of chronic granulomatous disease.Semantic proximity Read ↗

X-linked chronic granulomatous disease: first report of mutations in patients of Argentina.Semantic proximity Read ↗

Molecular diagnosis of X-linked chronic granulomatous disease in Iran.Semantic proximity Read ↗

Characterization of 4 New Mutations in the CYBB Gene in 10 Iranian Families With X-linked Chronic Granulomatous Disease.Semantic proximity Read ↗

Identification of a novel mutation in CYBB gene in a Chinese neonate with X-linked chronic granulomatous disease: A case report.Semantic proximity Read ↗

Characterization of six novel mutations in the CYBB gene leading to different sub-types of X-linked chronic granulomatous disease.Semantic proximity Read ↗

Molecular characterization of a novel splice site mutation within the CYBB gene leading to X-linked chronic granulomatous disease.Semantic proximity Read ↗

A Novel CYBB Mutation in Chronic Granulomatous Disease in Iran.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.