Article

Diagnosis of Chronic Granulomatous Disease: Strengths and Challenges in the Genomic Era

2024-07-18

Abstract excerpt

Chronic granulomatous disease (CGD) is a group of rare primary inborn errors of immunity characterised by a defect in the phagocyte respiratory burst, which leads to severe and life-threatening infective and inflammatory complications. Despite recent advances in our understanding of the genetic and molecular pathophysiology of X-linked and autosomal recessive CGD, and growth in the availability of functional and g...

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Literature Corpus work: 00289c65-4f59-5e9f-b63a-54c003baeec2
DOI: 10.20944/preprints202407.1479.v1

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