Research sheds light on excessive fatigue in female carriers of X-linked CGD

Anecdotal evidence has indicated that many female X-linked (XL-) CGD carriers suffer from excessive fatigue. Until now the extent of this problem and its underlying reasons were unclear, but new research, published in the Journal of Clinical Immunology, indicates a biological link.

Teams at Newcastle Royal Infirmary, Great Ormond Street Hospital and the Royal Free Hospital undertook this UK study. Dr Andrew Gennery, senior author on the paper, explains the study: 'We knew there was a link between mechanisms causing inflammation and fatigue from studies in other conditions, so we collected serum samples from 52 XL-CGD carriers in the UK and measured the levels of naturally occurring chemicals that are associated with inflammation. We also asked participants to detail their levels and symptoms of fatigue using a recognised scoring system.'

The research showed that approximately half (25/52) of XL-CGD carriers reported excessive levels of fatigue. XL-CGD carriers had higher levels of a chemical called IL-8, when compared with healthy controls and patients with established autoimmune disease. The IL-8 levels were also compared between the fatigued and non-fatigued groups of XL-CGD carriers. This showed that there were higher levels of IL-8 in those XL-CGD carriers who were fatigued than in those who were not.

'This is the first study to evaluate fatigue and pro-inflammatory markers in XL-CGD carriers. We believe that this is an important finding and shows that many XL-CGD carriers, previously thought to be unaffected, experience significant fatigue for which there is a biological cause. This opens up the possibility of targeted treatment of this symptom', said Dr Andrew Gennery.


Raised serum IL-8 levels are associated with excessive fatigue in female carriers of X-linked Chronic Granulomatous Disease in the UK.  Battersby AC, Martin AJ, Tarn J, Ng FW, Cale CM, Goldblatt D, Gennery AR.  J Clin Immunol. 2017 Apr;37(3):279-281.