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Chapter 73 : The Primary Immunodeficiency Diseases
Patients with primary immunodeficiency diseases most often are recognized because of their increased susceptibility to infection (chronic or recurrent infections without other explanation, infection with an organism of low virulence, or infection of unusual severity). However, these patients may also present with autoimmune or inflammatory disorders (e.g., hemolytic anemia, inflammatory bowel disease, vasculitis, or systemic lupus erythematosus) or as part of a syndrome complex (Table 1). Finally, in the future we will see an increasing number of people who are identified as having an immunodeficiency because of an abnormal newborn-screening test for T-cell receptor-excision circles (TRECs) or a mutation identified by genome sequencing.