Immune Dysregulation and Autoimmunity related Genetic Diseases Screening Protocol.


Özen A. O. , Lo B.(Executive), Barış S. , Aydıner E.

Universities of Other Countries Supported Project, 2020 - 2022

  • Project Type: Universities of Other Countries Supported Project
  • Begin Date: February 2020
  • End Date: February 2022

Project Abstract

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.