deficiency of adenosine deaminase 2
A 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.
MONDO:0018882
vasculitis
is_a
MONDO:0023603
hereditary disorder of connective tissue
is_a
MONDO:0957408
type 1 interferonopathy of childhood
is_a
ADA2 deficiency
exact
DADA2
exact
PAN
related
adenosine deaminase 2 deficiency
exact
childhood-onset polyarteritis nodosa
exact
deficiency of adenosine deaminase 2
exact
polyarteritis nodosa, childhood-onset
exact
vasculitis, autoinflammation, immunodeficiency, and hematologic defects syndrome
exact