An update of the primary antibody disorders

作者：Eley Brian^*

来源：Current Allergy and Clinical Immunology, 2008, 21(1): 13-19.

More than 200 primary immunodeficiency diseases (PIDs) have been described and the molecular basis of more than 120 characterised. Primary antibody deficiencies are the most common group. Approximately 50% of patients with PIDs have a primary antibody deficiency, and at least 80% of all primary antibody deficiencies are due to four conditions, namely, transient hypogammaglobulinaemia of infancy, IgG subclass deficiency, partial antibody deficiency with impaired polysaccharide responsiveness and selective IgA deficiency (SIgAD). Many primary antibody deficiencies either cause arrest during early B-lymphocyte development or impede the terminal differentiation of B lymphocytes. Several gene mutations including Bruton's tyrosine kinase (Btk) deficiency, mu heavy chain deficiency, lambda 5 deficiency, Ig alpha deficiency and Ig beta deficiency may cause arrest in early development. The molecular analysis of common variable immunodeficiency (CVID) has gained momentum. Mutations in genes encoding inducible T-cell costimulator, CD19, B-cell-activating factor receptor, transmembrane activator, calcium-modulating cyclophilin-ligand interactor, and the homolog of Escherichia coli MutS have been associated with CVID. Genetic research has suggested that CVID and SIgAD are related conditions. However, significant immunological differences between the two conditions exist. These observations should influence future CVID- and SIgAD-related research. The current classification of primary antibody deficiencies is discussed, and recent publications on clinical presentation and approach to diagnosis are reviewed.

• 出版日期2008-3