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Article

Characterization of AR-CGD female patient with a novel homozygous deletion in CYBC1 gene presenting with unusual clinical phenotype.

Clinical immunology (Orlando, Fla.) - 1 Jun 2023

Chiriaco Maria, De Matteis Arianna, Cifaldi Cristina, Di Matteo Gigliola, Rivalta Beatrice, Passarelli Chiara, Perrone Chiara, Novelli Antonio, De Benedetti Fabrizio, Insalaco Antonella, Palma Paolo, Finocchi Andrea

Abstract excerpt

Chronic granulomatous disease (CGD) is a human IEI caused by mutations in genes encoding the NADPH oxidase subunits, the enzyme responsible for the respiratory burst. CGD patients have severe life-threatening infections, hyperinflammation and immune dysregulation. Recently, an additional autosomal recessive AR-CGD (type 5) caused by mutations in CYBC1/EROS gene was identified. We report a AR-CGD5 patient with a...

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Identifiers

PMID: 37055004
DOI: 10.1016/j.clim.2023.109316

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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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