Rheumatology · Rheumatology / Autoinflammatory disease
Blau syndrome
also: Early-onset sarcoidosis; Jabs syndrome
Granulomatous arthritis, uveitis and dermatitis in young children.
- Specialty
- Rheumatology
- Subspecialty
- Rheumatology / Autoinflammatory disease
- Sex & age distribution
- Male: affected; Female: affected equally; Children: yes, before 4 years
- Gene(s) involved
- NOD2
- Alternative names & eponyms
- Early-onset sarcoidosis; Jabs syndrome
Etiology & mechanism
NOD2 gain-of-function.
Gene(s) involved (1)
Symptoms & signs (5)
In plain terms, someone with Blau syndrome may experience the following — click any to explore related syndromes:
Same gene(s)
Other syndromes that involve one of this syndrome's genes.
Overlapping symptoms
Other syndromes that share symptoms with this one.
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Shares symptoms with
Shares genes with
None.
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