First Results of Using Genome Sequencing in Discovering the Molecular Cause of Primary Immunodeficiencies

Activity: Talk or presentation types › Oral presentation

Description

Primary immunodeficiency disorders (PID) result from altered, poor, or absent function in one or more components of the immune system, that cause increased frequency and severity of infection, autoimmunity, aberrant inflammation, and malignancy in affected individuals. The understanding of the genetic heterogeneity of PID has expanded greatly over the last decade. Although next generation sequencing approach became more available still diagnostic yield for exome in PID is ranging from 15 – 70% depending on the study. Aim of the study. To enroll clinically diagnosed PID patients and with genome sequencing to identify the molecular cause.. 96 individuals (probands and their relatives) with clinically diagnosed PID enrolled in the study. For 14 patients performed genome sequencing where analyzed nucleotide variations and copy number variations in the selected gene panel from PanelApp browser related to PID following ACMG pathogenicity criteria.. Three patients identified molecular causes for PID in genes NRAS, SH2D1A, NR2F1. For one patient identified deep intronic variant, other complex structural variation would be missed if exome analysis would be performed. Two patients with identified variants of unknown clinical significance in genes NLRP1, MPO. Seven patients remain without identified genetic causes related to PID. . Genome sequencing allows for an increase in diagnostic yield in PID. Acknowledgments: Latvian Council of Science project Nr.LZP-2020/1-0269, MikroTik/The RSU Foundation project: Uncovering the etiology of primary immunodeficiency in children
Period29 Mar 2023
Event titleRSU International Research Conference 2023: Knowledge for Use in Practice
Event typeConference
OrganiserRīga Stradiņš University
LocationRiga, LatviaShow on map
Degree of RecognitionInternational

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