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Published Research for X-linked CGD Carriers

Research into the possible health complications of being a carrier of X-linked CGD is still in its infancy. The CGD Society is working hard to raise awareness of health problems experienced by people who are carriers of X-linked CGD and to encourage more research in this area.

This section summarises the findings, to date, of research papers examining the health of X-linked CGD carriers.

X-linked CGD carrier research

1. Health-Related Quality of Life and Emotional Health in X-Linked Carriers of Chronic Granulomatous Disease in the United Kingdom.

Battersby AC, Braggins H, Pearce MS, McKendrick F, Campbell M, Burns S, Cale CM, Goldblatt D, Gennery AR.  Journal of Clinical Immunology, 2019 Feb;39(2):195-199. doi: 10.1007/s10875-019-00607-6. Epub 2019 Mar 13.

The results found that over 40 per cent of the 61 XL-carriers surveyed had experienced moderate or greater levels of anxiety, with only a third having levels equivalent to those of the general population. The high anxiety scores were strongly associated with high levels of depression, low self-esteem, the presence of joint or bowel symptoms and higher levels of fatigue. Significantly, XL-carriers were found to have lower quality of life scores than CGD patients in the domains of vitality, emotional well-being and mental health.

2.  ‘X-linked carriers of chronic granulomatous disease: illness, lyonization, and stability’ .Marciano BE, Zerbe CS, Falcone EL, Ding L, DeRavin SS, Daub J, Kreuzburg S, Yockey L, Hunsberger S, Foruraghi L, Barnhart LA, Matharu K, Anderson V, Darnell DN, Frein C, Fink DL, Lau KP, Long Priel DA, Gallin JI, Malech HL, Uzel G, Freeman AF, Kuhns DB, Rosenzweig SD, Holland SM. Journal of Allergy and Clinical Immunology, 2018 Jan; 141(1): 365–371.

3.‘Inflammatory and autoimmune manifestations in X-linked carriers of chronic granulomatous disease in the United Kingdom’. Battersby AC, Braggins H, Pearce MS, Cale CM, Burns SO, Hackett S, Hughes S, Barge D, Goldblatt D, Gennery AR. Journal of Allergy and Clinical Immunology, 2017 Aug; 140(2): 628–630.

The two studies above showed that some XL-CGD carriers have similar problems with infection, inflammation and autoimmunity as seen in people with CGD. The studies underline the recommendation that the health of symptomatic XL-CGD carriers should be managed proactively and reviewed by suitably qualified specialist doctors.

4. ‘Clinical manifestations of disease in X-linked carriers of chronic granulomatous disease’.AC, Cale AM, Goldblatt D, Gennery AR. Journal of Clinical Immunology, 2013 Nov; 33(8): 1276–1284.

This is a review examining the literature about clinical manifestations of disease in XL-CGD carriers.

5. ‘Cutaneous and other lupus-like symptoms in carriers of X-linked chronic granulomatous disease: incidence and autoimmune serology’. Cale CM, Morton L, Goldblatt D. Clin Exp Immunol. 2007 Apr;148(1):79-84.

This research found that symptoms of photosensitivity, skin rashes, joint pains, fatigue and mouth ulcers, are common in carriers of X-linked CGD. It recommends that symptoms should be taken seriously and GPs consider referring patients to a rheumatologist or dermatologist so appropriate treatment can begin. It's likely that tests for lupus will be negative but this should not influence diagnosis and treatment of people who have 'lupus-like' symptoms.

6. ‘Abnormal apoptosis in chronic granulomatous disease and autoantibody production characteristic of lupus’. Sanford AN, Suriano AR, Herche D, Dietzmann K, Sullivan KE. Rheumatology (Oxford). 2006 Feb;45(2):178-81.

This study found a link between developing lupus and the inability CGD carriers’ phagocytes (white blood cells) to die and be cleared away by other cells in a normal coordinated way.

7. ‘Lupus erythematosus tumidus and chronic discoid lupus erythematosus in carriers of X-linked chronic granulomatous disease’. Rupec RA, Petropoulou T, Belohradsky BH, Walchner M, Liese JG, Plewing G, Messer G.  Eur J Dermatol. 2000 Apr-May;10(3):184-9.

The report describes two X-linked CGD carriers who developed discoid lupus erythematosus (DLE) and a photosensitive type of lupus called lupus erythematosus tumidus.

8. ‘Chronic granulomatous disease: a case study of a symptomatic carrier’. Romera Modamio G, Martín Mateos MA, González Enseñat MA, Pastor Gómez MA. J Investig Allergol Clin Immunol. 1997 Jan-Feb;7(1):57-61.

This paper showed how carriers of CGD may sometimes have symptoms of the condition themselves.

9. Smitt JH, Weening RS, Krieg SR, Bos JD. Br J Dermatol. 1990 May; 122(5):643-50.

This study surveyed 15 X-linked CGD carriers. 70% said they regularly had oral ulcers and 63% had recurrent skin rashes such as red scaly patches. Five of the carriers (31%) had discoid lupus erythematosus.

10. ‘Discoid lupus erythematosus-like lesions and stomatitis in female carriers of X-linked chronic granulomatous disease’.  Brandrup F, Koch C, Petri M, Schiødt M, Johansen KS. Br J Dermatol.  1981 May;104(5):495-505.

A study into the remarkably high incidence of discoid lupus-like symptoms in people who are X-linked carriers of CGD. Researchers believe this may be because the affected person has both normal and defective phagocytes.

11. ‘Relation of monocyte and neutrophil oxidative metabolism to skin and oral lesions in carriers of chronic granulomatous disease’. Kragballe K, Borregaard N, Brandrup F, Koch C, Staehrjohansen K.  Clin Exp Immunol. 1981 Feb;43(2):390-8.

One of the first studies to report health problems in people who are carriers of CGD. It found that five out of the 15 people carriers of X-linked CGD who took part in the study had the discoid form of lupus which resulted in skin problems. A further five people had recurrent mouth ulcers.

This page has been reviewed by our Medical Advisory Panel January 2020.


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