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

Congenital defects of the immune system called primary immunodeficiency disorders (PID)
describe a group of diseases characterized by a decrease, an absence, or a malfunction of …

Primary immunodeficiencies (PIDs) are a heterogeneous group of monogenic inborn errors
of immunity. The genetic causes of these diseases can be identified using whole exome …

Background: Variants in recombination-activating genes (RAG) are common genetic causes
of autosomal recessive forms of combined immunodeficiencies (CID) ranging from severe …

Background Common variable immunodeficiency (CVID) is a heterogeneous group of
disorders, characterized by recurrent upper and lower respiratory tract infections and some …

Ataxia-telangiectasia (AT) is a rare autosomal recessive syndrome characterized by
progressive cerebellar ataxia, oculocutaneous telangiectasia, immunodeficiency and cancer …

Background: Primary immunodeficiencies (PIDs) are a heterogeneous group of congenital
disorders characterized by susceptibility to recurrent infections, allergy, malignancies and …

Background Congenital agammaglobulinemia is the first primary immunodeficiency disorder
characterized by a defect in B lymphocyte development and subsequently decreased …

Activated PI3Kδ syndrome (APDS) Type I results from gain-of-function mutations in PIK3CD,
which encodes the p110δ subunit of PI3Kδ. Abnormal actin dynamics have been …

Background: Immune thrombocytopenia (ITP) is an autoimmune disorder associated with
decreased platelet production and accelerated platelet destruction. An impaired immune …