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This is a case of a child who, notwithstanding a long history of common childhood infections and a lymph node abscess, was relatively healthy and developing normally. His presentation with fulminant septicaemia and the subsequent discovery of a rare gram-negative organism was unexpected. The history of recurrent illnesses, many of which may have been infectious in origin, led to consideration of immunodeficiency as an underlying diagnosis. In the absence of clinical evidence of secondary immunodeficiency and given the early onset of symptoms, a primary immunodeficiency was suspected. The presence of granulomas and absence of mycobacterial infection noted in the histopathological examination are significant. Together with the characteristic clinical picture and the family history, which is suggestive of an X-linked condition, these findings are highly suggestive of chronic granulomatous disease (CGD). The histopathological diagnosis matched the clinical diagnosis, as the granulomas seen in the post-mortem samples were highly characteristic of the disease.

CGD is a rare (incidence 1 in 250 000) disease caused by defective NADPH oxidase, which results in failure or reduced activity of the respiratory burst in neutrophils (1). This leads to ineffective phagocytosis of bacteria and fungi, as the respiratory burst is essential for the production of free radicals required for intracellular killing. The disease is transmitted in two-thirds of cases in an X-linked fashion with associated mutations in the gp91 phox gene (2). Other families transmit the disease through autosomal inheritance of mutations in other genes implicated in the respiratory burst …