Novel Mutation in CECR1 Leads to Deficiency of ADA2 with Associated Neutropenia

Cipe F. E., Aydogmus C., Serwas N. K., Keskindemirci G., Boztug K.

JOURNAL OF CLINICAL IMMUNOLOGY, cilt.38, sa.3, ss.273-277, 2018 (SCI-Expanded) identifier identifier identifier

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 38 Sayı: 3
  • Basım Tarihi: 2018
  • Doi Numarası: 10.1007/s10875-018-0487-x
  • Dergi Adı: JOURNAL OF CLINICAL IMMUNOLOGY
  • Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Sayfa Sayıları: ss.273-277
  • Anahtar Kelimeler: ADA2, deficiency of adenosine deminase 2, neutropenia, ADENOSINE-DEAMINASE 2, CONGENITAL NEUTROPENIA, PROTEIN, GENE, VASCULOPATHY, PHENOTYPE
  • İstanbul Üniversitesi Adresli: Evet

Özet

Adenosine deaminase 2 (ADA2) have been reported to cause vasculitic diseases and immunodeficiency recently. Patients present with stroke episodes and rashes mimicking polyarteritis nodosa (PAN). We report a patient who has been followed up with severe neutropenia and found an unexpectedly revealed novel mutation in CECR1 affecting ADA2.