[HTML][HTML] Diagnostic tests for primary immunodeficiency disorders: Classic and genetic testing
N Klangkalya, TA Fleisher… - Allergy and Asthma …, 2024 - pmc.ncbi.nlm.nih.gov
Primary immunodeficiency diseases encompass a variety of genetic conditions
characterized by a compromised immune system and typically results in increased …
characterized by a compromised immune system and typically results in increased …
Monogenic etiologies of persistent human papillomavirus infections: A comprehensive systematic review
S Biglari, AS Moghaddam, MA Tabatabaiefar… - Genetics in …, 2024 - Elsevier
Purpose Persistent human papillomavirus infection (PHPVI) causes cutaneous, anogenital,
and mucosal warts. Cutaneous warts include common warts, Treeman syndrome, and …
and mucosal warts. Cutaneous warts include common warts, Treeman syndrome, and …
Consensus Middle East and North Africa Registry on inborn errors of immunity
Background Inborn errors of immunity (IEIs) are a heterogeneous group of genetic defects of
immunity, which cause high rates of morbidity and mortality mainly among children due to …
immunity, which cause high rates of morbidity and mortality mainly among children due to …
Molecular diagnostic yield of exome sequencing in patients with congenital hydrocephalus: a systematic review and meta-analysis
Importance Exome sequencing (ES) has been established as the preferred first line of
diagnostic testing for certain neurodevelopmental disorders, such as global developmental …
diagnostic testing for certain neurodevelopmental disorders, such as global developmental …
NFKB2 haploinsufficiency identified via screening for IFN-α2 autoantibodies in children and adolescents hospitalized with SARS-CoV-2–related complications
Background Autoantibodies against type I IFNs occur in approximately 10% of adults with
life-threatening coronavirus disease 2019 (COVID-19). The frequency of anti-IFN …
life-threatening coronavirus disease 2019 (COVID-19). The frequency of anti-IFN …
Hematologically important mutations: leukocyte adhesion deficiency (second update)
D Roos, K Van Leeuwen, M Madkaikar… - Blood Cells, Molecules …, 2023 - Elsevier
Leukocyte adhesion deficiency (LAD) is an immunodeficiency caused by defects in the
adhesion of leukocytes (especially neutrophils) to the blood vessel wall. As a result, patients …
adhesion of leukocytes (especially neutrophils) to the blood vessel wall. As a result, patients …
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 …
Genetic testing in Egyptian patients with inborn errors of immunity: a single-center experience
RE El Hawary, SS Meshaal, DS Abd Elaziz… - Journal of Clinical …, 2022 - Springer
Background Inborn errors of immunity (IEI) are a group of heterogeneous disorders with
geographic and ethnic diversities. Although IEI are common in Egypt, genetic diagnosis is …
geographic and ethnic diversities. Although IEI are common in Egypt, genetic diagnosis is …
[HTML][HTML] Cost-effectiveness of targeted exome analysis as a diagnostic test in glomerular diseases
Background Despite the emergence of diagnostic and clinical utility evidence in nephrology,
publicly funded access to genomic testing is restricted in most health care systems. To …
publicly funded access to genomic testing is restricted in most health care systems. To …
Exome sequencing vs targeted gene panels for the evaluation of nonimmune hydrops fetalis
ME Norton, J Van Ziffle, BR Lianoglou… - American journal of …, 2022 - Elsevier
Background Next-generation sequencing is increasingly used in prenatal diagnosis.
Targeted gene panels and exome sequencing are both available, but the comparative …
Targeted gene panels and exome sequencing are both available, but the comparative …