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Ancestor membership does not transfer phenotype values between groups.","importantHtml":""},"sections":[{"bodyHtml":"<p>ADA2 deficiency is caused by mutations in the ADA2 gene. This gene provides instructions for making an enzyme called adenosine deaminase 2. Studies suggest that this enzyme plays an essential role in the growth and development of certain immune system cells, including macrophages, which are a type of white blood cell that plays a critical role in inflammation. Some macrophages are pro-inflammatory, meaning they promote inflammation, while others are anti-inflammatory, meaning they reduce inflammation.</p><p>Mutations in the ADA2 gene severely reduce or eliminate the activity of adenosine deaminase 2. Researchers do not fully understand how a shortage (deficiency) of this enzyme&#x27;s activity leads to vasculitis and immune system abnormalities. They speculate that the enzyme deficiency may disrupt the balance between pro-inflammatory and anti-inflammatory macrophages in various tissues, leading to a buildup of pro-inflammatory macrophages and abnormal inflammation.</p><p class=\"section-source\"><a href=\"https://medlineplus.gov/genetics/condition/adenosine-deaminase-2-deficiency/#causes\">MedlinePlus Genetics: Causes</a></p>","key":"forms","title":"What causes Adenosine deaminase 2 deficiency?"},{"bodyHtml":"<p>Inflammation is a normal immune system response to injury and foreign invaders (such as bacteria). However, ADA2 deficiency causes abnormal, unprovoked inflammation that can damage the body&#x27;s tissues and organs, particularly blood vessels. (Inflammation of blood vessels is known as vasculitis.) Other tissues affected by abnormal inflammation can include the skin, gastrointestinal system, liver, kidneys, and nervous system. Depending on the severity and location of the inflammation, the disorder can cause disability or be life-threatening.</p><p>Signs and symptoms that can occur with ADA2 deficiency include fevers that are intermittent, meaning they come and go; areas of net-like, mottled skin discoloration called livedo racemosa; an enlarged liver and spleen (hepatosplenomegaly); and recurrent strokes affecting structures deep in the brain that can start in the first few years of life. In some people, ADA2 deficiency causes additional immune system abnormalities that increase the risk of bacterial and viral infections.</p><p>ADA2 deficiency is sometimes described as a form of polyarteritis nodosa (PAN), a disorder that causes inflammation of blood vessels throughout the body (systemic vasculitis). However, not all researchers classify ADA2 deficiency as a type of PAN.</p><p class=\"section-source\">Source: <a href=\"https://medlineplus.gov/genetics/condition/adenosine-deaminase-2-deficiency\">MedlinePlus Genetics</a></p>","key":"overview","title":"Condition overview"}],"sharedSources":[],"slug":"adenosine-deaminase-2-deficiency","sourceDocuments":[{"name":"Adenosine deaminase 2 deficiency","reviewed":"2018-08","sections":{"causes":{"fetchedAt":"2026-10-20T20:19:07.607418+00:00","label":"Causes","pageSha256":"ea33ef1c0219138985aa61b5fd50ba38b8bd398b9b467d3165b7f6db612fde84","sourceUrl":"https://medlineplus.gov/genetics/condition/adenosine-deaminase-2-deficiency/#causes","status":"available"}},"source_release":"2026-10-01","url":"https://medlineplus.gov/genetics/condition/adenosine-deaminase-2-deficiency"}],"sourceNote":"MedlinePlus descriptions and Causes; original HPO annotations.","takeawayHtml":"Cause explanations are from MedlinePlus Genetics. Feature values below retain their original sources and patient groups.","title":"Adenosine deaminase 2 deficiency"},"schemaVersion":1}