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, vol.38, no.3, pp.273-277, 2018 (SCI-Expanded) identifier identifier identifier

  • Publication Type: Article / Article
  • Volume: 38 Issue: 3
  • Publication Date: 2018
  • Doi Number: 10.1007/s10875-018-0487-x
  • Journal Name: JOURNAL OF CLINICAL IMMUNOLOGY
  • Journal Indexes: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Page Numbers: pp.273-277
  • Keywords: ADA2, deficiency of adenosine deminase 2, neutropenia, ADENOSINE-DEAMINASE 2, CONGENITAL NEUTROPENIA, PROTEIN, GENE, VASCULOPATHY, PHENOTYPE
  • Istanbul University Affiliated: Yes

Abstract

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.