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Lupus and Carriers of X-linked CGD

There is increasing evidence that carriers of X-linked CGD can develop symptoms of the condition lupus.

We want to make sure that medical professionals are aware of carrier-related health problems, such as lupus, so that they take them seriously and address them quickly and appropriately.

That's why we’ve also produced an information document for GPs, which you can download.

This section helps explain what lupus is, what to look out for and how it can be treated.


How do I know I am carrier of X-linked CGD?

X-linked CGD carrier females may have sons who are affected by the condition, the most common form of CGD. To diagnose whether you are a carrier, you can have a simple blood test using the nitroblue tetrazolium test (NBT) or dihydrorhodamine test  (DHR), or by genetic analysis. NBT and DHR will show a mixture of normal and abnormal white blood cells, some that are capable of producing chemicals called reactive oxygen species (ROS) and others that cannot.

In general, X-linked CGD carrier females are healthy. However, in some cases carriers get recurring mouth ulcers (known as apthous ulcers or canker sores) or regular skin infections. Doctors may prescribe prophylactic antibiotics to prevent and treat these problems.

Occasionally X-linked CGD carrier females also have symptoms associated with a condition called lupus.


What is Lupus?

Lupus is an autoimmune disease, caused by a fault in the body's immune system. This means lupus attacks the body’s own healthy tissues, in much the same way as it would attack an infection, causing inflammation in various parts of the body, for example the skin, kidneys.

There are two forms of lupus:

1) discoid lupus erythematosus (or DLE) which is largely confined to the skin
2) systemic lupus erythematosus  (SLE) which affects the body’s other tissues.


What are the symptoms of Lupus?

The common features of lupus are skin rashes and joint pains. Symptoms of systemic lupus may include inflammation of internal organs such as the lungs, heart, nervous system and kidneys.

Although mild symptoms seem relatively common in CGD carriers, the more severe symptoms (like the ones you may read about in the classical descriptions of the disease) are not.


How do I know if I have Lupus?

Lupus is diagnosed by the symptoms that people have and blood tests. These blood tests look for particular types of ‘auto-antibodies’ that interfere in the way cells work in the body. One of the most common tests looks for anti-nuclear antibodies (ANA), and antibodies to double stranded DNA (which makes up genes and chromosomes). However, these tests can show as negative in some people who do actually have lupus (especially discoid lupus) – this seems to be particularly true of X-linked CGD carriers.


What are Lupus-like symptoms?

There are a number of X-linked CGD carrier females who have ‘lupus-like’ symptoms – mainly skin rashes which are very sensitive to the sun, joint pain and tiredness. Doctors refer to these symptoms as ‘lupus-like’ because most X-linked CGD carrier females who have been tested for lupus do not have the auto-antibodies used to diagnose lupus or, if they do, their blood test results are only weakly positive.

2007 study by doctors at the Great Ormond Street Hospital CGD clinic asked 27 carriers of CGD whether they had any symptoms that were ‘lupus-like’. Of these, 12 reported at least one symptom. Blood tests found that, despite having some symptoms, the majority did not have the auto-antibodies characteristic of lupus.


How serious is Lupus?

For many people lupus-like symptoms are no more than a nuisance. Other people who have troublesome symptoms may benefit from the treatments used in lupus, even if their lupus blood tests are negative.

Systemic lupus can be a more unpredictable condition, which should be carefully monitored by a rheumatologist (often in a special lupus clinic).


What should I do if I think I have Lupus?

If you are a X-linked CGD carrier and think you may have lupus-like symptoms you should discuss these with your GP, have screening tests and consider asking for an assessment by a rheumatologist.

Symptoms need to be treated seriously. If they’re significant, you should be referred to a rheumatologist or dermatologist and given appropriate treatment. It is important that the GP (or rheumatologist) understands that there is a known link between lupus-like problems and being a carrier of CGD.

If you have any concerns, discuss them with your doctor or the CGD clinical nurse specialist.

Download an information sheet for GPs about the link between being a CGD carrier and lupus-like symptoms.


What Lupus-like symptoms should I look out for?

Lupus-like skin rash often develop on parts of the body that are exposed to the sun, such as the face, wrists/hands and chest. Some people find that they have problems with their hands in the cold where their skin becomes very white or blue coloured. This is a very common and is known as Raynaud's phenomenon joints. Many X-linked CGD carrier females have problems with their joints, mostly involving pain and some swelling. Lupus-like symptoms are often associated with feeling very tired.

If you do have any lupus-like symptoms it is best to get yourself checked out by your doctor.


Results from the CGD Society Carrier Survey

This survey of 35 X-linked CGD carriers highlighted the symptoms they experienced:

• 85% had mouth ulcers
• 88% were affected by skin problems
• 68% experienced abnormal fatigue
• 45% had recurring headaches.

Many people who responded had a combination of symptoms and in some cases the symptoms were severe and debilitating. The survey highlighted that symptoms tend to increase with age.


Treatment for Lupus-like symptoms

People who have skin rashes and joint pain are usually treated with creams (often containing some steroids) or anti-inflammatory medicines. Some people find that anti-malarial drugs (commonly Hydroxychloroquine) are also effective in treating the symptoms of lupus, particularly the feelings of tiredness, but a doctor must prescribe these specifically for you.

People who have more serious complications associated with systemic lupus may be treated with steroid tablets or other drugs known as immunosuppressants, which alleviate symptoms by damping down the immune system. When these medicines are prescribed, your doctor will want to review your health regularly through blood tests and regular check-ups.

Skin rashes associated with lupus are often very sensitive to the sun. It’s best to avoid sunbathing and wear a high factor sun cream (SPF 30 or higher) when outside (this may be available on prescription from your GP). People who have problems with Raynaud's phenomenon should keep warm and wear thick gloves and socks or tights.  Tiredness tends to come and go, so it’s best to try and get some rest when you are not feeling good and make the most of days when you are.


More information

Read our FAQs concerning Lupus and other carrier issues

Read some of the published research about x-linked carrier issues

Our website contains a wealth of information to help and support you. If you are not able to find the answer to a specific question, feel free to contact us using the form at the bottom of the page or by emailing or calling us.  We are here to help.