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Article

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

Blood - 19 Sept 2024

Wolach Baruch, Gavrieli Ronit, Wolach Ofir, Salamon Pazit, de Boer Martin, van Leeuwen Karin, Abuzaitoun Omar, Broides Arnon, Gottesman Giora, Grisaru-Soen Galia, Hagin David, Marcus Nufar, Rottem Menachem, Schlesinger Yechiel, Stauber Tali, Stepensky Polina, Dinur-Schejter Yael, Zeeli Tal, Hanna Suheir, Etzioni Amos, Frizinsky Shirly, Somech Raz, Roos Dirk, Lachover-Roth Idit

Abstract excerpt

ABSTRACT: Neutrophils are the first line of defense against invading pathogens. Neutrophils execute and modulate immune responses by generating reactive oxygen species (ROS). Chronic granulomatous disease (CGD) is a primary immune deficiency disorder of phagocytes, caused by inherited mutations in the genes of the nicotinamide adenine dinucleotide phosphate reduced oxidase enzyme. These mutations lead to failure...

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PMID: 38905634
DOI: 10.1182/blood.2023022590

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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