dc.contributor.author | Aydogmus, Cigdem | |
dc.contributor.author | Keskindemirci, Gonca | |
dc.contributor.author | Serwas, Nina K. | |
dc.contributor.author | Boztug, Kaan | |
dc.contributor.author | Cipe, Funda Erol | |
dc.date.accessioned | 2021-03-03T20:34:50Z | |
dc.date.available | 2021-03-03T20:34:50Z | |
dc.date.issued | 2018 | |
dc.identifier.citation | Cipe F. E. , Aydogmus C., Serwas N. K. , Keskindemirci G., Boztug K., "Novel Mutation in CECR1 Leads to Deficiency of ADA2 with Associated Neutropenia", JOURNAL OF CLINICAL IMMUNOLOGY, cilt.38, sa.3, ss.273-277, 2018 | |
dc.identifier.issn | 0271-9142 | |
dc.identifier.other | vv_1032021 | |
dc.identifier.other | av_5aa4cd92-1adb-408d-8fa1-0b6d6105ee87 | |
dc.identifier.uri | http://hdl.handle.net/20.500.12627/63694 | |
dc.identifier.uri | https://doi.org/10.1007/s10875-018-0487-x | |
dc.description.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. | |
dc.language.iso | eng | |
dc.subject | Yaşam Bilimleri | |
dc.subject | İmmünoloji | |
dc.subject | Yaşam Bilimleri (LIFE) | |
dc.subject | Temel Bilimler | |
dc.title | Novel Mutation in CECR1 Leads to Deficiency of ADA2 with Associated Neutropenia | |
dc.type | Makale | |
dc.relation.journal | JOURNAL OF CLINICAL IMMUNOLOGY | |
dc.contributor.department | Istanbul Kanuni Sultan Suleyman Training & Research Hospital , , | |
dc.identifier.volume | 38 | |
dc.identifier.issue | 3 | |
dc.identifier.startpage | 273 | |
dc.identifier.endpage | 277 | |
dc.contributor.firstauthorID | 352848 | |