Primary immunodeficiencies (PID) are disorders that for the most part result from mutations
in genes involved in immune host defense and immunoregulation. These conditions are …

CTLA-4 is a critical inhibitory “checkpoint” molecule of immune activation. Several recent
reports have described patients with immune dysregulation and lymphoproliferative disease …

Background Cytotoxic T-lymphocyte antigen 4 (CTLA-4) is a negative immune regulator.
Heterozygous CTLA4 germline mutations can cause a complex immune dysregulation …

Background & aims Monogenic forms of inflammatory bowel disease (IBD) illustrate the
essential roles of individual genes in pathways and networks safeguarding immune …

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

Introduction LPS-responsive beige-like anchor protein (LRBA) deficiency is a primary
immunodeficiency categorized as common variable immunodeficiency associated with …

Background LPS‐responsive beige‐like anchor protein (LRBA) deficiency is a combined
immunodeficiency caused by mutation in LRBA gene. The patients have a variety of clinical …

Young-onset autoimmune diabetes associated with additional autoimmunity usually reflects
a polygenic predisposition, but rare cases result from monogenic autoimmunity. Diagnosing …

Common Variable Immunodeficiency Disorders (CVID) are the most frequent symptomatic
primary immune deficiency (PID) in adults. Current estimates suggest a prevalence of∼ 1 …

LETTERS TO THE EDITOR 775 frequently coexpressed on a single-cell level, whereas
Granzyme A is expressed by a different subpopulation within the CXCR5lo cells. Given the …