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Cure Blau Syndrome Foundation

Research database

What science already knows about Blau syndrome.

The Foundation maintains a database of published research on Blau syndrome, early-onset sarcoidosis and CARD15/NOD2. Start with the papers below, then search the wider literature.

Start here

Three papers to read first.

Each one is discussed in the Foundation's own research notes.

  1. American Journal of Ophthalmology, 2018

    Blau Syndrome-Associated Uveitis: Preliminary Results From an International Prospective Interventional Case Series

    Sarens et al.

    Followed 50 Blau syndrome patients treated at 25 medical centers around the world, tracking eye disease over time and how well treatments worked.

    Read our note: Uveitis and Blau

    Read the paper
  2. Arthritis & Rheumatism, 2009

    Thalidomide in Blau syndrome

    Yasui et al.

    On the use of thalidomide in Blau syndrome. Our note looks at one patient whose height increased after starting treatment.

    Read our note: Thalidomide, growth and Blau

    Read the paper
  3. Journal of Allergy and Clinical Immunology

    CRISPR/Cas9 study in Blau syndrome

    A study conducted in Japan applying CRISPR/Cas9 gene editing to Blau syndrome.

    Read our note: CRISPR and Blau syndrome

    Read the paper

Search the literature

Go deeper with the world's research databases.

PubMed

Every indexed paper that mentions Blau syndrome.

Orphanet

The European rare disease reference entry for Blau syndrome.

INFEVERS

The registry of autoinflammatory gene variants, including NOD2.

Looking for the full archive?

The full searchable database from our previous website is being moved to this site. Until it is ready, researchers and families can email us for the current list of articles.

Our research notes, in plain language.

The Foundation writes about the studies that matter to families: uveitis, genotype, orphan drugs, CRISPR and more.

Every dollar, every hour, every voice matters.

Rare disease research only moves when families and supporters push it. Your gift funds research directly, and your story in the registry gives scientists data they cannot get anywhere else.