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

dc.contributor.authorAydogmus, Cigdem
dc.contributor.authorKeskindemirci, Gonca
dc.contributor.authorSerwas, Nina K.
dc.contributor.authorBoztug, Kaan
dc.contributor.authorCipe, Funda Erol
dc.date.accessioned2021-03-03T20:34:50Z
dc.date.available2021-03-03T20:34:50Z
dc.date.issued2018
dc.identifier.citationCipe 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.issn0271-9142
dc.identifier.othervv_1032021
dc.identifier.otherav_5aa4cd92-1adb-408d-8fa1-0b6d6105ee87
dc.identifier.urihttp://hdl.handle.net/20.500.12627/63694
dc.identifier.urihttps://doi.org/10.1007/s10875-018-0487-x
dc.description.abstractAdenosine 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.isoeng
dc.subjectYaşam Bilimleri
dc.subjectİmmünoloji
dc.subjectYaşam Bilimleri (LIFE)
dc.subjectTemel Bilimler
dc.titleNovel Mutation in CECR1 Leads to Deficiency of ADA2 with Associated Neutropenia
dc.typeMakale
dc.relation.journalJOURNAL OF CLINICAL IMMUNOLOGY
dc.contributor.departmentIstanbul Kanuni Sultan Suleyman Training & Research Hospital , ,
dc.identifier.volume38
dc.identifier.issue3
dc.identifier.startpage273
dc.identifier.endpage277
dc.contributor.firstauthorID352848


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