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Article

Chronic granulomatous disease: a 25-year patient registry based on a multistep diagnostic procedure, from the referral center for primary immunodeficiencies in Greece.

Journal of clinical immunology - 1 Nov 2013

Raptaki Maria, Varela Ioanna, Spanou Kleopatra, Tzanoudaki Marianna, Tantou Sofia, Liatsis Manolis, Constantinidou Nikki, Bakoula Chryssa, Roos Dirk, Kanariou Maria

Abstract excerpt

Chronic Granulomatous Disease (CGD) is an uncommon primary immunodeficiency caused by the absence or dysfunction of one of NADPH oxidase subunits, with heterogeneous genetic aetiologies. The aim of this study was the CGD patient registry in Greece, the identification of the responsible genotype and the potential correlation with the patient's clinical phenotype. Medical charts of 24 CGD patients, investigated by...

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Identifiers

PMID: 24081483
DOI: 10.1007/s10875-013-9940-z

Genes

CYBB
NCF1
NCF2

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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