Common problems in the diagnosis of immunodeficiency in children

Abstract

Primary immunodeficiency (ID) has an incidence of 1 in 10,000 and may have significant morbidity and mortality if not diagnosed and treated early. Children with signs and symptoms suggestive of immunodeficiency are often seen first by their paediatrician or family medical practitioner. For these reasons, it is essential that primary care physicians both of children and adults should be able to recognize the signs and symptoms of immunodeficiency and be knowledgeable about the screening procedures useful in the diagnosis of these diseases. However, this process is often complicated by the diverse presentations of immunodeficiency and the lack of specificity and relative inaccessibility of screening tests. The purpose of this paper is to address the major problems in diagnosis of immunodeficiency, including: 1) Which patients to seriously consider for diagnosis? 2) How to begin the work-up for primary immunodeficiency? 3) Which procedures are useful in the diagnosis of the various forms of immunodeficiency? and 4) What is the relative importance of immunoglobulin (IgG) subclasses?