Genetic evaluation of the patients with clinically diagnosed inborn errors of immunity by whole exome sequencing: Results from a specialized research center for …
B Erman, U Aba, C Ipsir, D Pehlivan, C Aytekin, G Cildir… - 2024 - researchsquare.com
Molecular diagnosis of inborn errors of immunity (IEI) poses critical implications for patient's
long-term prognosis, treatment options, and genetic counseling. Over the past decade, the …
long-term prognosis, treatment options, and genetic counseling. Over the past decade, the …
Whole-exome sequencing-based approach for germline mutations in patients with inborn errors of immunity
Purpose Owing to recent technological advancements, using next-generation sequencing
(NGS) and the accumulation of clinical experiences worldwide, more than 420 genes …
(NGS) and the accumulation of clinical experiences worldwide, more than 420 genes …
[HTML][HTML] Assessing whole-exome sequencing data from undiagnosed Brazilian patients to improve the diagnostic yield of inborn errors of immunity
CS Ferreira, R da Silva Francisco Junior, AL Gerber… - BMC Genomic …, 2023 - Springer
Objectives Inborn error of immunity (IEI) comprises a broad group of inherited immunological
disorders that usually display an overlap in many clinical manifestations challenging their …
disorders that usually display an overlap in many clinical manifestations challenging their …
[HTML][HTML] Genetic diagnosis of inborn errors of immunity using clinical exome sequencing
SS Kwon, YK Cho, S Hahn, J Oh, D Won… - Frontiers in …, 2023 - frontiersin.org
Inborn errors of immunity (IEI) include a variety of heterogeneous genetic disorders in which
defects in the immune system lead to an increased susceptibility to infections and other …
defects in the immune system lead to an increased susceptibility to infections and other …
[PDF][PDF] Implementation of Early Next-Generation Sequencing for Inborn Errors of Immunity the Genetics First for Primary Immunodeficiency Disorders Consortium; …
I Hollink - core.ac.uk
Objective: Inborn errors of immunity (IEI) are a heterogeneous group of disorders, affecting
different components of the immune system. Over 450 IEI related genes have been …
different components of the immune system. Over 450 IEI related genes have been …
Phenotypic heterogeneity and genotypic spectrum of inborn errors of immunity identified through whole exome sequencing in a Thai patient cohort
M Tengsujaritkul, N Suratannon, C Ittiwut… - Pediatric Allergy and …, 2022 - Wiley Online Library
Background Inborn errors of immunity (IEI) comprise more than 400 rare diseases with
potential life‐threatening conditions. Clinical manifestations and genetic defects are …
potential life‐threatening conditions. Clinical manifestations and genetic defects are …
A single-center pilot study in Malaysia on the clinical utility of whole-exome sequencing for inborn errors of immunity
Primary immunodeficiency diseases refer to inborn errors of immunity (IEI) that affect the
normal development and function of the immune system. The phenotypical and genetic …
normal development and function of the immune system. The phenotypical and genetic …
Clinical exome sequencing data from patients with inborn errors of immunity: cohort level meta-analysis and the benefit of systematic reanalysis
While next generation sequencing has expanded the scientific understanding of Inborn
Errors of Immunity (IEI), the clinical use of exome sequencing is still emerging. We …
Errors of Immunity (IEI), the clinical use of exome sequencing is still emerging. We …
[HTML][HTML] Clinical utility of whole exome sequencing and targeted panels for the identification of inborn errors of immunity in a resource-constrained setting
C Engelbrecht, M Urban, M Schoeman… - Frontiers in …, 2021 - frontiersin.org
Primary immunodeficiency disorders (PIDs) are inborn errors of immunity (IEI) that cause
immune system impairment. To date, more than 400 single-gene IEI have been well defined …
immune system impairment. To date, more than 400 single-gene IEI have been well defined …
[HTML][HTML] Utility of targeted next generation sequencing for inborn errors of immunity at a tertiary care centre in North India
Inborn errors of immunity (IEI) are a heterogeneous group of monogenic disorders that
include primary immunodeficiency's and other disorders affecting different aspects of the …
include primary immunodeficiency's and other disorders affecting different aspects of the …