Immunodeficiency: primary or acquired
The tempo of discovery continues to increase since the first deficiencies of immunity were described 60 years ago and is particularly rapid since the sequencing of the human genome in 1999. This module is updated monthly, which permits integration of newly described diseases into the growing list of deficiencies. People with similar primary immunodeficiencies are likely to exhibit patterns of characteristics that are different from a sample of a population of individuals without primary immunodeficiencies. Characteristics in this module include findings that are part of the medical history, physical examination and laboratory evaluation. The differential diagnosis of patients who present primarily with susceptibility to infection (frequent, severe, prolonged, unusual) includes noninfectious entities, including autoimmune, auto-inflammatory and atopic conditions. Molecular genotypes are associated with a range of human phenotypes; conversely individuals with similar genotypes display similar but not identical phenotypes. This diagnostic evaluation is personalized by directing inquiry to the most relevant immune cell(s), serological component, immunophysiological process or pathway/circuit, which facilitates efficient and cost-effective usage of confirmatory molecular diagnostic tests. Once a primary immunodeficiency is suspected, an optimal choice for care, if feasible, is efficient referral to a center that has particular expertise and experience in the diagnosis and management of patients with primary immunodeficiencies. Given that the time to diagnosis is an important factor for optimal patient care, our primary objective in developing the Diagnostic Support Tool is to increase the tempo of the diagnostic process by provision of an organizational assistant to the user.
Professor of Medicine and Pediatrics