The primary immunodeficiency diseases (PIDs) include many genetic disorders that affect
different components of the innate and adaptive responses. The number of distinct genetic …

Abstract The T helper 17 (Th17) cells contain a dynamic subset of CD4+ T-cells that are able
to develop into other different lineage subsets, including the Th1-like Th17 cells. These cells …

Background Recent findings strongly support hematopoietic stem cell transplantation
(HSCT) in patients with severe presentation of LPS-responsive beige-like anchor protein …

Background LPS-responsive beige-like anchor protein (LRBA) deficiency is a primary
immunodeficiency and immune dysregulation syndrome caused by biallelic mutations in the …

Purpose The etiology of 80% of patients with primary antibody deficiency (PAD), the second
most common type of human immune system disorder after human immunodeficiency virus …

Background The number of inherited diseases and the spectrum of clinical manifestations of
primary immunodeficiency disorders (PIDs) are ever-expanding. Molecular diagnosis using …

Autoimmune lymphoproliferative syndrome (ALPS) is an inherited non-malignant and non-
infectious lymphoproliferative syndrome caused by mutations in genes affecting the extrinsic …

Objectives: The aim of this study was to evaluate the frequency of autoimmunity in primary
antibody deficiency (PAD). Methods: A total of 471 patients with PADs enrolled in this …

Background Immune dysregulation is as important as susceptibility to infection in defining
primary immunodeficiencies (PIDs). Because of the variability and nonspecificity of the …

Common variable immunodeficiency (CVID) is the most prevalent antibody deficiency,
characterized by remarkable genetic, immunological, and clinical heterogeneity. The …