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Article

SRP54-related congenital neutropenia: a multidisciplinary effort.

BMJ case reports - 4 Feb 2026

Borg Azzopardi Darren, Vella Abigail, Ceci Bonello Etienne, Farrugia Daniel, Gerada Eleanor, Gatt Alexander

Abstract excerpt

A previously healthy Caucasian man in his 30s presented with a 9-week history of productive cough, fever and dyspnoea, initially treated as pneumonia with transient improvement. Examination revealed coarse right-sided crepitations and finger clubbing. Laboratory testing demonstrated persistent severe neutropenia and elevated inflammatory markers, while imaging showed persistent right middle lobe consolidation....

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Source

Identifiers

PMID: 41638760
DOI: 10.1136/bcr-2025-270598

Genes

SRP54

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 8 Sept 2026.

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