Selective IgE deficiency, immune dysregulation, and autoimmunity.

E Magen, M Schlesinger, M David… - Allergy & Asthma …, 2014 - search.ebscohost.com
Abstract Selective IgE deficiency (IgED) is currently defined as a significant decrease in
serum levels of IgE (< 2 kIU/L) in a patient whose other immunoglobulin levels are normal …

Identification of Patients with RAG Mutations Previously Diagnosed with Common Variable Immunodeficiency Disorders

D Buchbinder, R Baker, YN Lee, J Ravell… - Journal of clinical …, 2015 - Springer
Purpose Combined immunodeficiency (CID) presents a unique challenge to clinicians. Two
patients presented with the prior clinical diagnosis of common variable immunodeficiency …

Diagnostics of primary immunodeficiencies through next-generation sequencing

V Gallo, L Dotta, G Giardino, E Cirillo… - Frontiers in …, 2016 - frontiersin.org
Background Recently, a growing number of novel genetic defects underlying primary
immunodeficiencies (PIDs) have been identified, increasing the number of PID up to more …

Assessing disease severity in common variable immunodeficiency disorders (CVID) and CVID-like disorders

R Ameratunga - Frontiers in immunology, 2018 - frontiersin.org
Common Variable Immunodeficiency Disorders (CVID) are the most frequent symptomatic
primary immune deficiency (PID) in adults. Current estimates suggest a prevalence of∼ 1 …

[PDF][PDF] Clinical, laboratory, and molecular findings for 63 patients with severe combined immunodeficiency: a decade's experience

MR Fazlollahi, Z Pourpak, AA Hamidieh… - J Investig Allergol …, 2017 - researchgate.net
Introduction: Severe combined immunodeficiency (SCID) is known as a pediatric emergency
disease with life threatening conditions. This is an exclusive report of clinical evaluation …

Primary immunodeficiency diseases in Egyptian children: a single-center study

SM Reda, HM Afifi, MM Amine - Journal of clinical immunology, 2009 - Springer
Introduction Sixty-four primary immunodeficiency patients were registered at the Pediatric
Allergy and Immunology Department, Children's Hospital, Ain Shams University, Cairo …

State-of-the-art diagnostic evaluation of common variable immunodeficiency

TK Lee, JD Gereige, PJ Maglione - Annals of Allergy, Asthma & Immunology, 2021 - Elsevier
Objective To summarize the current understanding of diagnostic and postdiagnostic
evaluation of common variable immunodeficiency (CVID). Data Sources PubMed Central …

Whole exome sequencing (WES) approach for diagnosing primary immunodeficiencies (PIDs) in a highly consanguineous community

AJ Simon, AC Golan, A Lev, T Stauber, O Barel… - Clinical …, 2020 - Elsevier
Primary immunodeficiencies (PIDs) are a heterogeneous group of monogenic inborn errors
of immunity. The genetic causes of these diseases can be identified using whole exome …

Identification of Heterozygous Single- and Multi-exon Deletions in IL7R by Whole Exome Sequencing

KR Engelhardt, Y Xu, A Grainger… - Journal of clinical …, 2017 - Springer
Purpose We aimed to achieve a retrospective molecular diagnosis by applying state-of-the-
art genomic sequencing methods to past patients with T-B+ NK+ severe combined …

Diagnostic challenges in patients with inborn errors of immunity with different manifestations of immune dysregulation

K Pieniawska-Śmiech, G Pasternak… - Journal of Clinical …, 2022 - mdpi.com
Inborn errors of immunity (IEI), formerly known as primary immunodeficiency disorders
(PIDs), are inherited disorders caused by damaging germline variants in single genes …