Primary immunodeficiencies: a 27-year review at a tertiary paediatric hospital in Cape Town, South Africa
R Naidoo, L Ungerer, M Cooper, S Pienaar… - Journal of clinical …, 2011 - Springer
Introduction The epidemiology of primary immunodeficiencies (PID) is not well documented
in Africa. The objective of this study was to describe the spectrum of PID at a tertiary …
in Africa. The objective of this study was to describe the spectrum of PID at a tertiary …
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 …
(PIDs), are inherited disorders caused by damaging germline variants in single genes …
Uses of next-generation sequencing technologies for the diagnosis of primary immunodeficiencies
M Seleman, R Hoyos-Bachiloglu, RS Geha… - Frontiers in …, 2017 - frontiersin.org
Primary immunodeficiencies (PIDs) are genetic disorders impairing host immunity, leading
to life-threatening infections, autoimmunity, and/or malignancies. Genomic technologies …
to life-threatening infections, autoimmunity, and/or malignancies. Genomic technologies …
The prevalances and patient characteristics of primary immunodeficiency diseases in Turkey—two centers study
Abstract Purpose Primary immunodeficiency diseases (PIDs) are inherited disorders of the
immune system resulting in increased susceptibility to unusual infections and predisposition …
immune system resulting in increased susceptibility to unusual infections and predisposition …
Primary immunodeficiencies worldwide
MC van Zelm, A Condino-Neto… - Frontiers in …, 2020 - frontiersin.org
The field of Primary Immunodeficiencies (PID) is growing fast. Over 400 diseases are
defined and characterized by recurrent or chronic infections, autoimmunity, allergy …
defined and characterized by recurrent or chronic infections, autoimmunity, allergy …
Targeted NGS platforms for genetic screening and gene discovery in primary immunodeficiencies
C Cifaldi, I Brigida, F Barzaghi, M Zoccolillo… - Frontiers in …, 2019 - frontiersin.org
Background: Primary Immunodeficiencies (PIDs) are a heterogeneous group of genetic
immune disorders. While some PIDs can manifest with more than one phenotype, signs, and …
immune disorders. While some PIDs can manifest with more than one phenotype, signs, and …
Changing the lives of people with primary immunodeficiencies (PI) with early testing and diagnosis
A Condino-Neto, FJ Espinosa-Rosales - Frontiers in Immunology, 2018 - frontiersin.org
Throughout the world, primary immunodeficiencies (PI) are largely undiagnosed and
underreported. Many patients do not receive an accurate and timely diagnosis, which is …
underreported. Many patients do not receive an accurate and timely diagnosis, which is …
A phenotypic approach for IUIS PID classification and diagnosis: guidelines for clinicians at the bedside
AA Bousfiha, L Jeddane, F Ailal, W Al Herz… - Journal of clinical …, 2013 - Springer
The number of genetically defined Primary Immunodeficiency Diseases (PID) has increased
exponentially, especially in the past decade. The biennial classification published by the …
exponentially, especially in the past decade. The biennial classification published by the …
Unbiased targeted next-generation sequencing molecular approach for primary immunodeficiency diseases
H Al-Mousa, M Abouelhoda, DM Monies… - Journal of Allergy and …, 2016 - Elsevier
Background Molecular genetics techniques are an essential diagnostic tool for primary
immunodeficiency diseases (PIDs). The use of next-generation sequencing (NGS) provides …
immunodeficiency diseases (PIDs). The use of next-generation sequencing (NGS) provides …
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 …