Deficiency of adenosine deaminase 2
MONDO:0014306A rare autoinflammatory disease characterized by a broad clinical phenotype of systemic inflammation, vasculitis, early-onset stroke, immunodeficiency and bone marrow failure. The disease typically presents in young children, although adult cases are being discovered.
Also known as: ADA2 deficiency, DADA2, adenosine deaminase 2 deficiency, childhood-onset polyarteritis nodosa, deficiency of adenosine deaminase 2, polyarteritis nodosa, childhood-onset, vasculitis, autoinflammation, immunodeficiency, and hematologic defects syndrome, PAN
17 clinical trials for this condition and its sub-types, 3 tagged with Deficiency of adenosine deaminase 2 itself.
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Scientists launch major study to unravel mysterious metabolism disorders
Knowledge-focused Recruiting nowThis study aims to learn more about rare disorders that affect how the body processes chemicals called pyrimidines and purines. These disorders can cause problems in the brain, blood, kidneys, and immune system, ranging from mild to life-threatening. Researchers will compare test…
Sponsor: National Human Genome Research Institute (NHGRI) • Aim: Knowledge-focused
Last updated Aug 21, 2026 00:00 UTC
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Could the gut hold the key to calming autoinflammatory Flare-Ups?
Knowledge-focused Recruiting nowThis study investigates whether gut bacteria and the chemicals they produce influence inflammation in people with autoinflammatory diseases such as FMF, CAPS, and MKD. Researchers will analyze stool and blood samples from 300 patients to measure gut-derived metabolites and assess…
Sponsor: Assistance Publique - Hôpitaux de Paris • Aim: Knowledge-focused
Last updated Jul 24, 2026 00:00 UTC
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Scientists hunt for genetic clues in rare childhood immune disorders
Knowledge-focused Recruiting nowThis study is not a treatment trial. It aims to collect blood samples from 400 children and their relatives who have rare autoimmune or autoinflammatory diseases (like lupus or juvenile arthritis). Researchers will analyze the samples to find genetic mutations that cause these co…
Sponsor: Hospices Civils de Lyon • Aim: Knowledge-focused
Last updated Jun 27, 2026 08:06 UTC