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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)
Article / Article
JOURNAL OF CLINICAL IMMUNOLOGY
Science Citation Index Expanded (SCI-EXPANDED), Scopus
ADA2, deficiency of adenosine deminase 2, neutropenia, ADENOSINE-DEAMINASE 2, CONGENITAL NEUTROPENIA, PROTEIN, GENE, VASCULOPATHY, PHENOTYPE
Istanbul University Affiliated:
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.