Akademik Veri Yönetim Sistemi
Özen A. O., Lo B.(Yürütücü), Barış S., Aydıner E.
Diğer Ülkelerden Üniversiteler Tarafından Desteklenmiş Proje, 2020 - 2022
This protocol is designed to screen patients with suspected or identified diseases of immune
dysregulation and/or autoimmunity. Patients determined by clinical history and initial outside
evaluation by their referring physician to be of interest will be consented and enrolled into this
study. The informed consent document will be thoroughly explained and patients or their guardians
will be given the opportunity to read, discuss and ask questions regarding this screening protocol.
Blood and buccal specimens from such patients or their family members will be obtained for
research studies related to understanding the genetic and molecular basis of these diseases. Whole
exome or genome sequencing on genomic DNA will be performed to identify mutations and/or
carrier states. Additional analyses of blood cells, their cellular constituents (i.e. DNA, RNA, or
proteins), or plasma will be performed to study immune function and biochemistry in order to
characterize abnormalities and/or develop therapies or diagnostic tests for such disorders. Outside
medical records will be obtained for chart review to correlate clinical history to research laboratory
test results. In the course of this study, we will not be providing care for the patients, but only
providing information about laboratory research results on patient specimens to the referring
physician, and where applicable patients will be referred to other appropriate IRB protocols for
additional clinical evaluation and treatment. Genetic analysis results for all tested individuals will be
kept confidential and will first be conveyed to the referring physician who takes advice from clinical
geneticists/ genetic counselors regarding subsequent actions.