The emerging roles of NGS in clinical oncology and personalized medicine
Next-generation sequencing (NGS) has been increasingly popular in genomics studies over
the last decade, as new sequencing technology has been created and improved. Recently …
the last decade, as new sequencing technology has been created and improved. Recently …
Humoral and cellular response following vaccination with the BNT162b2 mRNA COVID-19 vaccine in patients affected by primary immunodeficiencies
D Amodio, A Ruggiero, M Sgrulletti, C Pighi… - Frontiers in …, 2021 - frontiersin.org
Mass SARS-Cov-2 vaccination campaign represents the only strategy to defeat the global
pandemic we are facing. Immunocompromised patients represent a vulnerable population at …
pandemic we are facing. Immunocompromised patients represent a vulnerable population at …
[HTML][HTML] Clonal hematopoiesis in children with predisposing conditions
Clonal hematopoiesis in children and young adults differs from that occuring in the older
adult population. A variety of stressors drive this phenomenon, sometimes independent of …
adult population. A variety of stressors drive this phenomenon, sometimes independent of …
Efficacy and economics of targeted panel versus whole-exome sequencing in 878 patients with suspected primary immunodeficiency
Background Next-generation sequencing has become a first-line tool for the diagnosis of
primary immunodeficiency. However, patient access remains limited because of restricted …
primary immunodeficiency. However, patient access remains limited because of restricted …
EuroFlow-based flowcytometric diagnostic screening and classification of primary immunodeficiencies of the lymphoid system
JJM Van Dongen, M Van der Burg, T Kalina… - Frontiers in …, 2019 - frontiersin.org
Guidelines for screening for primary immunodeficiencies (PID) are well-defined and several
consensus diagnostic strategies have been proposed. These consensus proposals have …
consensus diagnostic strategies have been proposed. These consensus proposals have …
Expanding the clinical and genetic spectra of primary immunodeficiency-related disorders with clinical exome sequencing: expected and unexpected findings
F Rudilla, C Franco-Jarava, M Martínez-Gallo… - Frontiers in …, 2019 - frontiersin.org
Primary immunodeficiencies (PIDs) refer to a clinically, immunologically, and genetically
heterogeneous group of over 350 disorders affecting development or function of the immune …
heterogeneous group of over 350 disorders affecting development or function of the immune …
Implementation of early next-generation sequencing for inborn errors of immunity: a prospective observational cohort study of diagnostic yield and clinical implications …
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 …
T-follicular helper cell expansion and chronic T-cell activation are characteristic immune anomalies in Evans syndrome
D Kumar, C Prince, CM Bennett… - Blood, The Journal …, 2022 - ashpublications.org
Pediatric Evans syndrome (pES) is increasingly identified as the presenting manifestation of
several inborn errors of immunity. Despite an improved understanding of genetic defects in …
several inborn errors of immunity. Despite an improved understanding of genetic defects in …
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 …
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 …