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Education And Debate

Fortnightly Review: Concensus on diagnosis and management of primary antibody deficiencies

BMJ 1994; 308 doi: (Published 26 February 1994) Cite this as: BMJ 1994;308:581
  1. H M Chapel
  1. John Radcliffe Hospital, Oxford OX3 9DU.

    Summary points

    • Summary points

    • Lack of awareness of the range of primary antibody defects has resulted in considerable underdiagnosis and diagnostic delay

    • Patients who receive an early diagnosis and appropriate immunoglobulin replacement therapy lead normal lives; those in whom the condition is undiagnosed have recurrent infections, often severe, as well as malabsorption, anaemia, or bronchiectasis - primary antibody deficiency is a costly diagnosis to miss

    • Not all patients present with recurrent acute infections in childhood: failure to thrive, unexplained hepatosplenomegaly or arthropathy, and chronic infection are common presenting features, and over 95% of patients present as adults

    • All patients should be referred to a consultant immunologist for precise diagnosis and long term management, often in conjunction with an appropriate specialist or paediatrician, or both

    • Recent expansion of clinical immunology services allows opportunities for better patient care

    Primary antibody deficiency syndromes include congenital and acquired antibody deficiencies but not those secondary to other diseases such as myeloma, chronic lymphocytic leukaemia, or protein losing enteropathy. Hypogammaglobulinaemia was the diagnosis usually given to patients with low serum immunoglobulin concentrations without an identifiable cause, b t these patients are more accurately described as having primary antibody deficiency. There is a range of primary antibody defects (box),1 though the clinical significance of some subgroups has been recognised only recently.*RF 2-4*

    Types of primary antibody deficiencies

    • Common variable immune deficiency - Low serum IgG and IgA concentrations, including IgG subclasses, with or without low serum IgM levels

    • X linked antibody deficiency - Occurs in boys before the age of 2 years

      Some have a family history

    • IgG subclass deficiencies

      May be an indication for immunoglobulin replacement therapy in patients with recurrent infections who also do not produce specific IgG antibodies after test immunisations

    • Specific antibody deficiency

      Occurs in patients with a classic history of humoral immune deficiency …

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