Overview Complement deficiencies are rare primary immunodeficiencies resulting from inherited absence or dysfunction of complement proteins, regulators, or receptors. They predispose to recurrent…

Overview Hyper-IgE syndrome (HIES) is a rare primary immunodeficiency characterised by markedly elevated serum IgE, recurrent staphylococcal skin and lung infections, eczema, and connective tissue/…

Overview Leukocyte adhesion deficiency (LAD) is a rare primary immunodeficiency characterised by recurrent bacterial and fungal infections, impaired wound healing, and absence of pus formation due to…

Overview Chronic granulomatous disease (CGD) is a rare, inherited primary immunodeficiency characterised by defective function of the NADPH oxidase enzyme complex in phagocytes, leading to failure of the…

Overview DiGeorge syndrome (22q11.2 deletion syndrome) is a congenital immunodeficiency and multisystem disorder caused by a microdeletion on chromosome 22. It leads to defective development of the third…

Overview Wiskott–Aldrich syndrome is a rare X-linked recessive primary immunodeficiency caused by mutations in the WAS gene, leading to defective actin cytoskeleton regulation in hematopoietic cells. It presents…

Overview Common Variable Immunodeficiency (CVID) is the most frequent clinically significant primary antibody deficiency, characterised by hypogammaglobulinaemia and impaired antibody responses. It…

Overview Severe combined immunodeficiency (SCID) is the most severe form of primary immunodeficiency, characterised by profound defects in both humoral (B-cell) and cellular (T-cell) immunity. It presents…

Overview X-linked agammaglobulinaemia (XLA) is a rare primary immunodeficiency caused by mutations in the Bruton’s tyrosine kinase (BTK) gene, leading to failure of B-cell maturation. It results in profound…