Table 1.

Summary of published cases with Blau syndrome and large-vessel vasculitis.

No. with Vasculopathy	Blau Phenotype	Vascular Phenotype	Substitution	Publication	Familial vs Sporadic
2/4	Classical	Large-vessel	Predated testing	1982¹¹	F (4 affected)
1	Classical	Renovascular hypertension	Predated testing	1986¹²	S
1	Classical	Takayasu arteritis	Predated testing	1990⁵	S
1	Classical	Aortitis	Predated testing	1996¹³	S
2 pedigrees	Not reported	Large-vessel vasculitis	R334W and R334Q	2002¹⁴	F