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oa Current Allergy & Clinical Immunology - Chronic granulomatous disease and the challenges of diagnosis and management in South Africa : PID article

Volume 29, Issue 2
  • ISSN : 1609-3607

 

Abstract

Chronic granulomatous disease (CGD) is a rare genetic primary immunodeficiency disorder (PID) of phagocytes which manifests with severe bacterial and fungal infections but also granuloma formation that may be mistaken for Tuberculosis. CGD is caused by gene mutations or deletions of the nicotinamide adenine dinucleotide phosphate (NADPH) oxidase (phox) complex which result in defective phagocytic respiratory burst function required for killing microbes. Patients with X-linked CGD and delay in diagnosis have a worse prognosis, as this is usually fatal in the first decade of life without prophylactic antibiotics and antifungals. Haematopoietic stem-cell transplantation and future gene-replacement therapy hold the only hope for a cure.


On the South African PID Registry, ten cases have been reported, of whom two have died prematurely. This article summarises the history, clinical presentation and laboratory investigations of two brothers with CGD, illustrating also the importance of family history and compliance.

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/content/caci/29/2/EJC190538
2016-06-01
2019-08-20

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