C. Xie , J. Su , T. Cole
Introduction: Chronic granulomatous disease (CGD) is a
rare hereditary primary immunodeﬁciency with several
forms, most commonly of X-linked inheritance. In addition
to increased susceptibility to bacterial and fungal infection,
patients with CGD are also predisposed to a variety of
inﬂammatory and autoimmune conditions, including systemic
lupus erythematosus (SLE). There have also been
reports of discoid lupus, photosensitivity and other lupus
spectrum dermatoses, especially among female carriers of
X-linked CGD. The pathogenesis of such dermatoses in
patients and carriers of CGD is poorly described.
Objective: To describe two cases of lupus spectrum dermatosis
in boys with CGD and hypothesise on pathogenenic
Case details: One boy with CGD developed intermittent,
photosensitive facial erythema from the age of 6 months. At
age 7, he developed generalised erythematous plaques, histologically consistent with lupus erythematosus. He also
had recurrent mouth ulcers, lip swelling and anal ﬁssures.
Serial dihydrorhodamine oxidation (DHR) test performed
over several years revealed that his proportion of functional
neutrophils ﬂuctuated between 23% and 90%. A second
case is presented which also shows partial neutrophil oxidative
function in association with cutaneous lupus.
Conclusion: The link between CGD and lupus-spectrum
dermatoses remains unclear. Abnormal apoptosis and
NETosis have both been implicated in lupus pathogenesis.
We hypothesise that having a proportion of functional
neutrophils, with exaggerated NETosis associated with
abnormal apoptotic stimuli, may play a role in the pathogenesis
of lupus in some CGD patients and carriers.