Make up TIB

Antibody deficiency diseases are common collectively. The clinical presentation of these disorders is extremely variable and they affect many different organ systems; hence these patients present to a variety of medical and surgical specialists. Patients suffering from antibody deficiency are susceptible to significant, recurrent infections and if diagnosis and implementation of therapy is delayed are likely to experience significant morbidity and even mortality. It is therefore important that a broad range of physicians and surgeons are able to recognise the symptoms and signs of primary antibody deficiency, so that they are able to order and analyse basic immunology laboratory investigations. This will expedite referral to an appropriate specialist who is able to manage the affected individuals in the long term. The classification, clinical presentation, laboratory investigation and clinical management of such patients are reviewed. Table I. Classification of primary antibody deficiency disorders Antibody deficiencies Gene defect (chromosomal) • X-linked agammaglobulinaemia btk (Xq21.3) • X-linked agammaglobulinaemia with growth hormone deficiency • AR agammaglobulinaemia – m heavy chain deficiency IGHM (14q32) – l5 deficiency IGLL1 (22q11.22) – Iga deficiency mb-1 (1q13.2) – BLNK deficiency BLNK (10q23.22) • Hyper IgM (HIGM) syndromes – XL (HIGM1) CD40L (Xq27) – AID defect (HIGM2) AID (?12p13) – CD 40 deficiency (HIGM3) CD40 (20q12-q13.2) • X-linked anhydrotic ectodermal dysplasia with immune deficiency IKKg gene • Immunodeficiency with thymoma