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

NAPDH Oxidase-Specific Flow Cytometry Allows for Rapid Genetic Triage and Classification of Novel Variants in Chronic Granulomatous Disease.

Journal of clinical immunology - 1 Jan 2020

Sacco Keith A, Smith Matthew J, Bahna Sami L, Buchbinder David, Burkhardt Joshua, Cooper Megan A, Hartog Nicholas L, Kobrynski Lisa, Patel Kiran P, Abraham Roshini S

Abstract excerpt

PURPOSE: Chronic granulomatous disease (CGD) is an innate immune deficiency, primarily affecting the phagocytic compartment, and presenting with a diverse phenotypic spectrum ranging from severe childhood infections to monogenic inflammatory bowel disease. Dihydrorhodamine (DHR) flow cytometry is the standard diagnostic test for CGD, and correlates with NADPH oxidase activity. While there may be genotype...

Read the complete abstract on PubMed

Topics

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

Share to Flow Cytometry
Share to Granulocytes

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Share to Granulomatous Disease, Chronic

Share to Immunologic Deficiency Syndromes

Share to Infant

Share to NADPH Oxidases

Share to Respiratory Burst

Share to Triage

Source

Identifiers

PMID: 31813112
DOI: 10.1007/s10875-019-00712-6

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence. Graph snapshot: 2026-09-29.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

NAPDH Oxidase-Specific Flow Cytometry Allows for Rapid Genetic Triage and Classification of Novel Variants in Chronic Granulomatous Disease.PMID 31813112Read ↗

Diagnostic Modalities Based on Flow Cytometry for Chronic Granulomatous Disease: A Multicenter Study in a Well-Defined Cohort.Semantic proximity Read ↗

Interpretation of Dihydrorhodamine-1,2,3 Flow Cytometry in Chronic Granulomatous Disease: an Atypical Exemplar.Semantic proximity Read ↗

Diagnosis of Chronic Granulomatous Disease: Strengths and Challenges in the Genomic EraSemantic proximity Read ↗

Role of Flow Cytometry in the Diagnosis of Chronic Granulomatous Disease: the Egyptian Experience.Semantic proximity Read ↗

The respiratory burst oxidase and the molecular genetics of chronic granulomatous disease.Semantic proximity Read ↗

Clinical, Immunological, and Molecular Findings of Patients with p47phox Defect Chronic Granulomatous Disease (CGD) in Indian Families.Semantic proximity Read ↗

Clinical and molecular significance of flow cytometric analysis for reactive oxygen species production and residual p67phox expression in p67phox-deficient chronic granulomatous disease.Semantic proximity Read ↗

Genotype-phenotype correlations in chronic granulomatous disease: insights from a large national cohort.Semantic proximity Read ↗

Geographic Variability and Pathogen-Specific Considerations in the Diagnosis and Management of Chronic Granulomatous DiseaseSemantic proximity Read ↗

Molecular characterization of autosomal recessive chronic granulomatous disease caused by a defect of the nicotinamide adenine dinucleotide phosphate (reduced form) oxidase component p67-phox.Semantic proximity Read ↗

Analysis of Chronic Granulomatous Disease in the Kavkazi Population in Israel Reveals Phenotypic Heterogeneity in Patients with the Same NCF1 mutation (c.579G>A).Semantic proximity Read ↗

NCF1 (p47phox)–deficient chronic granulomatous disease: comprehensive genetic and flow cytometric analysisSemantic proximity Read ↗

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