The same mutation in a family with adenosine deaminase 2 deficiency

Sozeri B., Ercan G., Dogan Ö., Yildiz J., Demir F., Doganay L.

RHEUMATOLOGY INTERNATIONAL, cilt.41, sa.1, ss.227-233, 2021 (SCI-Expanded) identifier identifier identifier

  • Yayın Türü: Makale / Derleme
  • Cilt numarası: 41 Sayı: 1
  • Basım Tarihi: 2021
  • Doi Numarası: 10.1007/s00296-019-04444-z
  • Dergi Adı: RHEUMATOLOGY INTERNATIONAL
  • Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus, Academic Search Premier, BIOSIS, CAB Abstracts, EMBASE, MEDLINE, Veterinary Science Database
  • Sayfa Sayıları: ss.227-233
  • Anahtar Kelimeler: Adenosine deaminase 2 deficiency, Polyarteritis nodosa and CECR1
  • Acıbadem Mehmet Ali Aydınlar Üniversitesi Adresli: Hayır

Özet

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.