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dc.contributor.authorKendir, Demirkol
dc.contributor.authorSönmez, HE
dc.contributor.authorÇakan, M
dc.contributor.authorTanatar, Ayşe
dc.contributor.authorAktay, Ayaz
dc.contributor.authorKaradağ, ŞG
dc.contributor.authorSözeri, B
dc.date.accessioned2021-03-06T21:42:09Z
dc.date.available2021-03-06T21:42:09Z
dc.date.issued2020
dc.identifier.citationTanatar A., Karadağ Ş., Sözeri B., Sönmez H., Çakan M., Kendir D., Aktay A., "ADA2 Deficiency: Case Series of Five Patients with Varying Phenotypes", JOURNAL OF CLINICAL IMMUNOLOGY, cilt.40, ss.253-258, 2020
dc.identifier.issn0271-9142
dc.identifier.othervv_1032021
dc.identifier.otherav_ffe530e9-d0bc-4900-8b07-eee37e5686d5
dc.identifier.urihttp://hdl.handle.net/20.500.12627/167273
dc.identifier.urihttps://doi.org/10.1007/s10875-019-00734-0
dc.description.abstractObjective To describe the clinical features, genotype, and treatment approaches of patients with confirmed adenosine deaminase 2 (ADA2) deficiency with dissimilar phenotypes. Methods A case series of five DADA2 patients from three families was presented. The clinical and laboratory data, treatment protocols, and outcome of the patients were recorded from the patients' medical charts. ADA2 gene was screened by next generation sequencing first and then verified by Sanger sequencing. Serum ADA2 enzyme activity was measured by modified spectrophotometric method. Results The median (min-max) age at onset of symptoms and age at diagnosis were 11 (9-13.8) years and 15 (9-19) years, respectively. The median (min-max) follow-up period was 8 (6-45) months. There was consanguinity in two families (2/3). The main clinical manifestations are musculoskeletal (5/5), dermatological (4/5), and neurological (2/5). Homozygosity for the p.G47R mutation in ADA2 gene was detected in three patients. A homozygous mutation in ADA2 gene (c.650 T > A; p.Val217Asp) was detected in two siblings. Plasma ADA2 enzymatic activity was absent in all patients. Anti-tumor necrosis factor (TNF) therapy was commenced, and all patients became clinically inactive with normal acute-phase reactants. Conclusion ADA2 mutations should be checked in patients with presence of inflammation and livedoid vasculitis when they have neurological findings, especially in the form of stroke; and a history suggesting for an inherited disease; or presence of resistance to conventional treatment. Besides, anti-TNF seems to be useful for treatment of DADA2.
dc.language.isoeng
dc.subjectTemel Bilimler
dc.subjectİmmünoloji
dc.subjectYaşam Bilimleri (LIFE)
dc.subjectYaşam Bilimleri
dc.titleADA2 Deficiency: Case Series of Five Patients with Varying Phenotypes
dc.typeMakale
dc.relation.journalJOURNAL OF CLINICAL IMMUNOLOGY
dc.contributor.department, ,
dc.identifier.volume40
dc.identifier.issue2
dc.identifier.startpage253
dc.identifier.endpage258
dc.contributor.firstauthorID837915


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