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F1000Res. 2017 Aug 11;6:1427. doi: 10.12688/f1000research.11789.1. eCollection 2017.

Recent advances in understanding and treating chronic granulomatous disease.

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Paediatric Immunology and Haematopoietic Stem Cell Transplantation, Great North Childrens' Hospital, Newcastle upon Tyne, UK.
Primary Immunodeficiency Group, Institute of Cellular Medicine, Newcastle University, Newcastle upon Tyne, UK.


A number of recent advances have been made in the epidemiology and treatment of chronic granulomatous disease. Several reports from developing regions describe the presentations and progress of local populations, highlighting complications due to Bacillus Calmette-Guérin vaccination. A number of new reports describe complications of chronic granulomatous disease in adult patients, as more survivors reach adulthood. The complications experienced by X-linked carriers are particularly highlighted in three new reports, confirming that infection and inflammatory or autoimmune conditions are more common and severe than previously recognised. Finally, definitive treatment with haematopoietic stem cell transplantation and gene therapy is reviewed.


X-linked carrier disease; chronic granulomatous disease; gene therapy; haematopoietic stem cell transplantation; inflammatory bowel disease

Conflict of interest statement

Competing interests: The author declares that he has no competing interests.No competing interests were disclosed.Competing interests: Andrew Gennery wrote two chapters for a book edited by Dirk RoosNo competing interests were disclosed.Competing interests: Nizar Mahlaoui and Andrew Gennery have previously collaborated on large multicentre studies for hematopoietic cell transplantation (PMID: 28392333, 25595268) and are both on the board of the European Society for Immunodeficiencies.

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