The same mutation in a family with adenosine deaminase 2 deficiency.
Rheumatol Int
; 41(1): 227-233, 2021 Jan.
Article
in En
| MEDLINE
| ID: mdl-31541281
ABSTRACT
The deficiency of adenosine deaminase 2 (DADA2) has recently been defined as a monogenetic autosomal recessive autoinflammatory disease. DADA2 is mainly characterized by high fever, livedo racemose, early-onset stroke, mild immunodeficiency and clinically polyarteritis nodosa (PAN)-like symptoms. Mutations in CECR1 (cat eye syndrome chromosome region, candidate 1) are responsible for DADA2. Livedoid racemose, lacunar infarct due to involvement in small vessel of the central nervous system, peripheral neuropathy, digital ulcers and loss of fingers are predominantly seen in the disease which could progress to end-stage organ failure and death in some patients. A wide spectrum of severity in phenotype as well as in the age of onset has been reported in the literature. This phenotypic variability is also found in our clinical practice even in patients with the same mutation. Here, we present a family diagnosed with DADA2, with the previously reported p.Gly47Arg mutation in CECR1.
Key words
Full text:
1
Collection:
01-internacional
Database:
MEDLINE
Main subject:
Polyarteritis Nodosa
/
Severe Combined Immunodeficiency
/
Agammaglobulinemia
Limits:
Adolescent
/
Adult
/
Child
/
Child, preschool
/
Female
/
Humans
/
Male
Language:
En
Journal:
Rheumatol Int
Year:
2021
Document type:
Article
Affiliation country:
Turkey
Publication country:
ALEMANHA
/
ALEMANIA
/
DE
/
DEUSTCHLAND
/
GERMANY