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 …

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 …

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 …

The prevalances and patient characteristics of primary immunodeficiency diseases in Turkey—two centers study

SS Kilic, M Ozel, D Hafizoglu, NE Karaca… - Journal of clinical …, 2013 - Springer
Abstract Purpose Primary immunodeficiency diseases (PIDs) are inherited disorders of the
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 …

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 …

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 …

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 …

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 …

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 …