Fifty years have elapsed since the term common variable immunodeficiency (CVID) was
introduced to accommodate the many and varied antibody deficiencies being identified in …

Inborn errors of immunity (IEI) are a diverse group of monogenic disorders of the immune
system due to germline variants in genes important for the immune response. Over the past …

Severe combined immunodeficiency (SCID) results from defects in the differentiation of
hematopoietic stem cells into mature T lymphocytes, with additional lymphoid lineages …

Autoimmune lymphoproliferative syndrome (ALPS) is a primary immune regulatory disorder
characterized by benign or malignant lymphoproliferation and autoimmunity. Classically …

Abstract The Human Phenotype Ontology (HPO) is a widely used resource that
comprehensively organizes and defines the phenotypic features of human disease …

Background Next-generation sequencing has become a first-line tool for the diagnosis of
primary immunodeficiency. However, patient access remains limited because of restricted …

Background Accurate, detailed, and standardized phenotypic descriptions are essential to
support diagnostic interpretation of genetic variants and to discover new diseases. The …

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 …

Abstract Consanguineous marriages in Middle Eastern and North African (MENA) countries
are deeply-rooted tradition and highly prevalent resulting into increased prevalence of …