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 …

Spectrum of disease manifestations in patients with selective immunoglobulin E deficiency

C Picado, I Ortiz de Landazuri, A Vlagea… - Journal of clinical …, 2021 - mdpi.com
Background: Selective IgE deficiency (SIgED) has been previously evaluated in selected
patients from allergy units. This study investigates the effects of SIgED on the entire …

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 …

Targeted next-generation sequencing: a novel diagnostic tool for primary immunodeficiencies

IJ Nijman, JM van Montfrans, M Hoogstraat… - Journal of Allergy and …, 2014 - Elsevier
Background Primary immunodeficiency (PID) disorders are a heterogeneous group of
inherited disorders caused by a variety of monogenetic immune defects. Thus far, mutations …

Distribution of primary immunodeficiency diseases diagnosed in a pediatric tertiary hospital

FC Javier III, CM Moore, RU Sorensen - Annals of Allergy, Asthma & …, 2000 - Elsevier
BACKGROUND: Advances in immunologic techniques in recent years have led to increased
recognition of primary immunodeficiency disorders, with IgA deficiency the most common …

Increased malignancy incidence in IgE deficient patients not due to concomitant Common Variable Immunodeficiency

D Ferastraoaru, R Gross, D Rosenstreich - Annals of Allergy, Asthma & …, 2017 - Elsevier
Abstract Background Immunoglobulin E (IgE) deficiency (< 2.5 kU/L) has unclear clinical
significance. Very little is known about the clinical characteristics of IgE deficiency in patients …

[PDF][PDF] Improving the diagnostic efficiency of primary immunodeficiencies with targeted next-generation sequencing

M Fusaro, J Rosain, V Grandin, N Lambert… - Journal of Allergy and …, 2021 - Elsevier
With more than 430 genetic defects, primary immunodeficiencies (PIDs) or inborn errors of
immunity are a heterogeneous group of rare genetic disorders affecting the immune system …

Fourth update on the Iranian National Registry of Primary Immunodeficiencies: integration of molecular diagnosis

H Abolhassani, F Kiaee, M Tavakol… - Journal of clinical …, 2018 - Springer
Background The number of inherited diseases and the spectrum of clinical manifestations of
primary immunodeficiency disorders (PIDs) are ever-expanding. Molecular diagnosis using …

Gene hunting in the genomic era: approaches to diagnostic dilemmas in patients with primary immunodeficiencies

C Platt, RS Geha, J Chou - Journal of Allergy and Clinical Immunology, 2014 - Elsevier
There are more than 180 different genetic causes of primary immunodeficiencies identified
to date. Approaches for identifying causative mutations can be broadly classified into 3 …

Unexpected relevant role of gene mosaicism in patients with primary immunodeficiency diseases

A Mensa-Vilaró, MB García-Morato… - Journal of Allergy and …, 2019 - Elsevier
Background Postzygotic de novo mutations lead to the phenomenon of gene mosaicism.
The 3 main types are called somatic, gonadal, and gonosomal mosaicism, which differ in …