The same mutation in a family with adenosine deaminase 2 deficiency.
Adolescent
Adrenal Cortex Hormones
/ therapeutic use
Adult
Agammaglobulinemia
/ complications
Age of Onset
Child
Child, Preschool
Family
Female
Genetic Predisposition to Disease
Humans
Immunosuppressive Agents
/ therapeutic use
Male
Pedigree
Polyarteritis Nodosa
/ etiology
Severe Combined Immunodeficiency
/ complications
Adenosine deaminase 2 deficiency
Polyarteritis nodosa and CECR1
Journal
Rheumatology international
ISSN: 1437-160X
Titre abrégé: Rheumatol Int
Pays: Germany
ID NLM: 8206885
Informations de publication
Date de publication:
Jan 2021
Jan 2021
Historique:
received:
07
04
2019
accepted:
11
09
2019
pubmed:
22
9
2019
medline:
10
11
2021
entrez:
22
9
2019
Statut:
ppublish
Résumé
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.
Identifiants
pubmed: 31541281
doi: 10.1007/s00296-019-04444-z
pii: 10.1007/s00296-019-04444-z
doi:
Substances chimiques
Adrenal Cortex Hormones
0
Immunosuppressive Agents
0
Types de publication
Case Reports
Journal Article
Review
Langues
eng
Sous-ensembles de citation
IM
Pagination
227-233Références
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