[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 …

[HTML][HTML] Utility of targeted next generation sequencing for inborn errors of immunity at a tertiary care centre in North India

A Rawat, M Sharma, P Vignesh, AK Jindal, D Suri… - Scientific Reports, 2022 - nature.com
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 …

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 …

[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 …

A single-center pilot study in Malaysia on the clinical utility of whole-exome sequencing for inborn errors of immunity

AM Ripen, CT Chear, MF Baharin… - Clinical & …, 2021 - academic.oup.com
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 …

Approach to genetic diagnosis of inborn errors of immunity through next-generation sequencing

E Karimi, F Mahmoudian, SOL Reyes, UA Bargir… - Molecular …, 2021 - Elsevier
Patients with inborn errors of immunity (IEI) present with a heterogeneous clinical and
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

T Okano, K Imai, T Naruto, S Okada… - Journal of clinical …, 2020 - Springer
Purpose Owing to recent technological advancements, using next-generation sequencing
(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 …

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 …

[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 …