[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 …
[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 …
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 …
[HTML][HTML] Implementation of early next-generation sequencing for inborn errors of immunity: a prospective observational cohort study of diagnostic yield and clinical …
K Elsink, MMH Huibers, IHIM Hollink, A Simons… - Frontiers in …, 2021 - frontiersin.org
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 …
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 …
Approach to genetic diagnosis of inborn errors of immunity through next-generation sequencing
Patients with inborn errors of immunity (IEI) present with a heterogeneous clinical and
immunological phenotype, therefore a correct molecular diagnosis is crucial for the …
immunological phenotype, therefore a correct molecular diagnosis is crucial for 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 …
Next-generation sequencing for inborn errors of immunity
K Lee, RS Abraham - Human Immunology, 2021 - Elsevier
Inborn errors of immunity (IEIs) include several hundred gene defects affecting various
components of the immune system. As with other constitutional disorders, next-generation …
components of the immune system. As with other constitutional disorders, next-generation …
Next generation sequencing (NGS)-based approach to diagnosing Algerian patients with suspected inborn errors of immunity (IEIs)
XP Peng, MS Al-Ddafari, A Caballero-Oteyza… - Clinical …, 2023 - Elsevier
The advent of next-generation sequencing (NGS) technologies has greatly expanded our
understanding of both the clinical spectra and genetic landscape of inborn errors of …
understanding of both the clinical spectra and genetic landscape of inborn errors of …
[HTML][HTML] Inborn errors of immunity in mainland China: the past, present and future
M Deng, H Mao - BMJ Paediatrics Open, 2023 - ncbi.nlm.nih.gov
Inborn errors of immunity (IEI), also known as primary immunodeficiency diseases, comprise
a group of rare genetic disorders that affect the development or/and function of the immune …
a group of rare genetic disorders that affect the development or/and function of the immune …
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