Accurate and timely diagnosis of primary immunodeficiencies (PID) is an ongoing effort.
Individuals with PID can be severely impacted by their disease and many experience …

Wilson and Jungner's recommendations for population-based screening have been used to
guide decisions regarding candidate disease inclusion in newborn screening programs for …

Background Severe Combined Immune Deficiency (SCID) is an inherited defect in
lymphocyte development and function that results in life-threatening opportunistic infections …

Regulatory T cells (Treg) are essential for immune balance, preventing overreactive
responses and autoimmunity. Although traditionally characterized as CD4+ CD25+ …

Introduction Genetic testing of patients with clinically diagnosed or suspected primary
immunodeficiencies (PIDs) constitutes standard of care. Choice of testing modality and …

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 …

Objective Inborn errors of immunity (IEI) are rare genetic conditions affecting the immune
system. The rate of IEI and their presentation, course, and treatment are all affected by a …

The study of primary immunodeficiencies or inborn errors of immunity continues to drive our
knowledge of the function of the human immune system. From the outset, the study of inborn …

Background Hematopoietic stem cell transplantation (HSCT) is the curative option for many
primary immune deficiency disorders (PID). In the last 5 years, increased awareness …

Background: Primary immunodeficiencies (PIs) are a set of heterogeneous chronic disorders
characterized by immune dysfunction. They are diagnostically challenging because of their …