Blau syndrome
MONDO:0008523Blau syndrome (BS) is a rare systemic inflammatory disease characterized by early onset granulomatous arthritis, uveitis and skin rash. BS now refers to both the familial and sporadic (formerly early-onset sarcoidosis) form of the same disease. The proposed term pediatric granulomatous arthritis is currently questioned since it fails to represent the systemic nature of the disease.
Also known as: BLAUS, Blau syndrome, EOS, Jabs syndrome, arthrocutaneouveal granulomatosis, early-onset sarcoidosis, granulomatosis, familial juvenile systemic, granulomatosis, familial, Blau type
13 clinical trials for this condition and its sub-types, 3 tagged with Blau syndrome itself.
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20,000 volunteers needed to decode immune disease genetics
Knowledge-focused Recruiting nowThis study will analyze DNA from up to 20,000 people, including those with immune disorders and their relatives, to find genetic variants linked to conditions like atopy, autoimmunity, and primary immunodeficiency. Researchers will also study how best to return genetic results to…
Sponsor: National Institute of Allergy and Infectious Diseases (NIAID) • Aim: Knowledge-focused
Last updated Sep 18, 2026 00:00 UTC
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Scientists seek genetic clues to mysterious fever diseases
Knowledge-focused Recruiting nowThis study aims to learn more about the genetics and natural history of autoinflammatory diseases, which cause repeated fevers and inflammation. Researchers will study up to 5,000 people, including patients, their relatives, and healthy volunteers. Participants provide blood and …
Sponsor: National Human Genome Research Institute (NHGRI) • Aim: Knowledge-focused
Last updated Sep 11, 2026 00:00 UTC
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Scientists launch major study to unravel mysteries of rare immune diseases
Knowledge-focused Recruiting nowThis study aims to understand the causes and progression of Common Variable Immunodeficiency (CVID) and related inborn errors of immunity. Researchers will observe up to 500 patients over time using blood tests, imaging, and other exams. The goal is to find better ways to diagnos…
Sponsor: National Institute of Allergy and Infectious Diseases (NIAID) • Aim: Knowledge-focused
Last updated Sep 03, 2026 00:00 UTC
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Genetic hunt for hidden causes of mysterious inflammatory diseases
Knowledge-focused Recruiting nowThis study aims to better understand VEXAS syndrome and other autoinflammatory conditions by analyzing participants' DNA from blood, saliva, or skin samples. Researchers hope to discover new genetic variants that cause or contribute to these diseases. The study enrolls people of …
Sponsor: NYU Langone Health • Aim: Knowledge-focused
Last updated Jul 10, 2026 00:00 UTC
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New study aims to unlock secrets of rare inflammatory diseases
Knowledge-focused Recruiting nowThis study is looking at 50 children and adults with rare autoinflammatory diseases—conditions where the immune system causes inflammation without a clear reason. Researchers want to find what leads to a faster diagnosis, what factors are linked to these diseases, and which treat…
Sponsor: Hospices Civils de Lyon • Aim: Knowledge-focused
Last updated Jun 27, 2026 13:00 UTC
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Scientists launch hunt for clues in autoimmune skin diseases
Knowledge-focused Recruiting nowThis study aims to create a large collection of blood samples and medical information from 800 people with autoimmune or inflammatory skin diseases. Researchers will use these samples to find new biomarkers and better understand what causes these conditions. The goal is to help d…
Sponsor: University Hospital, Toulouse • Aim: Knowledge-focused
Last updated Jun 27, 2026 11:03 UTC
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Scientists hunt for hidden genes behind mysterious fevers
Knowledge-focused Recruiting nowThis study is looking for new genes and biological markers that cause systemic autoinflammatory diseases (SAIDs), a group of rare conditions that cause repeated fevers and inflammation. Researchers will analyze the DNA and blood of 300 patients to find disease-causing mutations a…
Sponsor: Institut National de la Santé Et de la Recherche Médicale, France • Aim: Knowledge-focused
Last updated Jun 27, 2026 09:11 UTC
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Scientists investigate mysterious genetic variants behind rare inflammatory diseases
Knowledge-focused Recruiting nowThis study looks at people with autoinflammatory diseases or AA amyloidosis who have genetic changes that are hard to interpret. Researchers want to understand if these changes actually cause the disease. The goal is to improve diagnosis and knowledge, not to test a new treatment…
Sponsor: Assistance Publique - Hôpitaux de Paris • Aim: Knowledge-focused
Last updated Jun 26, 2026 12:47 UTC