Global report on primary immunodeficiencies: 2018 update from the Jeffrey Modell Centers Network on disease classification, regional trends, treatment modalities …

V Modell, JS Orange, J Quinn, F Modell - Immunologic research, 2018 - Springer
Primary immunodeficiencies (PI) are genetic defects of the immune system that result in
chronic, serious, and often life-threatening infections, if not diagnosed and treated. Many …

Primary immunodeficiencies: a rapidly evolving story

N Parvaneh, JL Casanova, LD Notarangelo… - Journal of allergy and …, 2013 - Elsevier
The characterization of primary immunodeficiencies (PIDs) in human subjects is crucial for a
better understanding of the biology of the immune response. New achievements in this field …

[PDF][PDF] Clinical manifestations in the patients with primary immunodeficiencies: data from one regional center

O Boyarchuk, L Dmytrash - Turkish Journal of Immunology, 2019 - academia.edu
Introduction: Defining clinical signs is very important for timely diagnosis of diseases, as well
as primary immunodeficiencies (PID). The aim of our study was to identify manifestations …

Relevance of laboratory testing for the diagnosis of primary immunodeficiencies: a review of case-based examples of selected immunodeficiencies

RS Abraham - Clinical and Molecular Allergy, 2011 - Springer
The field of primary immunodeficiencies (PIDs) is one of several in the area of clinical
immunology that has not been static, but rather has shown exponential growth due to …

Primary immunodeficiency diseases: a practical guide for clinicians

SE Turvey, FA Bonilla, AK Junker - Postgraduate medical journal, 2009 - academic.oup.com
Primary immunodeficiency diseases (PIDs) are genetically determined disorders of the
immune system resulting in greatly enhanced susceptibility to infectious disease …

Investigation of genetic defects in severe combined immunodeficiency patients from Turkey by targeted sequencing

B Erman, I Bilic, T Hirschmugl, E Salzer… - Scandinavian …, 2017 - Wiley Online Library
Primary immunodeficiencies (PID s) represent a large group of disorders with an increased
susceptibility to infections. Severe combined immunodeficiency (SCID) is the most severe …

Frequency and manifestations of autoimmunity among children registered in the Kuwait National Primary Immunodeficiency Registry

MJ Massaad, M Zainal, W Al-Herz - Frontiers in immunology, 2020 - frontiersin.org
Objectives: To present a prospective report on the characteristics of autoimmune
manifestations in patients with primary immunodeficient children registered in the Kuwait …

Expanding the clinical and genetic spectra of primary immunodeficiency-related disorders with clinical exome sequencing: expected and unexpected findings

F Rudilla, C Franco-Jarava, M Martínez-Gallo… - Frontiers in …, 2019 - frontiersin.org
Primary immunodeficiencies (PIDs) refer to a clinically, immunologically, and genetically
heterogeneous group of over 350 disorders affecting development or function of the immune …

Jeffrey's insights: Jeffrey Modell Foundation's global genetic sequencing pilot program to identify specific primary immunodeficiency defects to optimize disease …

J Quinn, V Modell, J Holle, R Truty, S Aradhya… - Immunologic …, 2020 - Springer
Primary immunodeficiencies (PI) are genetic defects of the immune system that result in
chronic and often life-threatening infections and/or life-threatening autoimmunity if not …

Clinical features, non-infectious manifestations and survival analysis of 161 children with primary immunodeficiency in Mexico: a single center experience over two …

SO Lugo Reyes, G Ramirez-Vazquez… - Journal of clinical …, 2016 - Springer
Abstract Purpose The hallmark of Primary immunodeficiencies (PID) is unusual infection,
although other immunological non-infectious manifestations such as autoimmunity, allergy …