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 …
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 …
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
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 …
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 …
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 …
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 …
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 …
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 …
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
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 …
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 …
The 3 main types are called somatic, gonadal, and gonosomal mosaicism, which differ in …