Lupus is an autoimmune disease. That means the immune system, which is supposed to fight infection, is attacking healthy tissue instead. The disease can cause inflammation and pain in any part of the body, although it commonly affects the skin, joints, and internal organs. It’s estimated that 1.5 million people in the United States have lupus, most between the ages of 15 and 44. Since lupus can’t be cured, doctors work on managing the disease and treating its symptoms.
There are different types of lupus, including:
- Systemic lupus erythematosus (SLE), which can cause acute or chronic inflammation in multiple organs or organ systems in the body; it is the focus of new strategies for care.
- Chronic cutaneous lupus, which is limited to the skin, but can progress to SLE.
- Drug-induced lupus syndromes, which are caused by certain drugs. They may be mild or severe, but generally improve after the medication is stopped. These syndromes can often be diagnosed based on symptoms and laboratory testing.
- Neonatal lupus, which affects infants of women with lupus as either a rash or, more rarely, irregular heart rhythms. Skin symptoms typically disappear six months after delivery. Changes in heart rhythm require specialized cardiac care.
One clue that leads lupus specialists to suspect a patient may have the disease is evidence of inflammation in several organ systems, such as the skin, blood vessels, and joints.
Beyond that, there is range of symptoms that can occur in different combinations. Some people have heard of the red, butterfly-shaped rash over the cheeks and nose that is associated with lupus—but many patients don’t get that rash, and in people who do, it doesn’t always mean lupus.
Although systemic lupus erythematosus (SLE) is generally a polygenic autoimmune disease, the discovery of monogenic lupus cases and rare pathogenic variants has provided important insights into disease mechanisms, including important roles of complement, type I interferons and B cell survival. There is accumulating evidence that patients with SLE display phenotypes that are consistent with increased TLR7 signalling associated with elevated IgD−CD27− double-negative B cells and, more specifically, the CXCR5−CD11c+ subset (also known as DN2 B cells or age-associated B cells (ABCs)) in the peripheral blood, and excessive accumulation of extrafollicular helper T cells. in a research study, scientists describe the action of a de novo TLR7 single-residue gain-of-function (GOF) variant that increases the affinity of TLR7 for guanosine and cGMP, causing enhanced TLR7 activation and childhood-onset SLE.
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