Laboratory evaluation of the immune system
- Francisco A Bonilla, MD, PhD
Francisco A Bonilla, MD, PhD
- Section Editor — Immunology and Immunodeficiency
- Associate Professor of Pediatrics
- Harvard Medical School
- E Richard Stiehm, MD
E Richard Stiehm, MD
- Editor-in-Chief — Allergy and Immunology
- Section Editor — Immunology and Immunodeficiency
- Distinguished Research Professor of Pediatrics
- David Geffen School of Medicine at UCLA
Immunodeficiency most often comes to clinical attention because of an increase in the incidence or severity of infectious illness beyond what is considered "normal." This topic review will provide a general approach to the laboratory evaluation of the immune system, beginning with screening tests and progressing through the indications for more advanced immunologic testing. Indications for referral to a specialist are discussed, and links to more detailed topics about the different groups of disorders are provided here and throughout the topic. (See "Primary humoral immunodeficiencies: An overview" and "Combined immunodeficiencies" and "Primary disorders of phagocytic function: An overview" and "Laboratory evaluation of neutrophil disorders" and "Overview and clinical assessment of the complement system".)
INITIAL APPROACH TO THE PATIENT
Immunodeficiency disorders should be considered once the more common causes of recurrent infection have been excluded. The initial approach to a child or adult with recurrent infections is described separately. (See "Approach to the child with recurrent infections" and "Approach to the adult with recurrent infections".)
Immune dysregulation can result in disorders other than recurrent infections including:
●Autoimmune disorders, such as autoimmune hemolytic anemia
●Inflammatory disorders, such as inflammatory bowel disease or inflammatory arthritis
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- INITIAL APPROACH TO THE PATIENT
- Physical examination
- Initial screening laboratory tests
- CATEGORIES AND PREVALENCE OF IMMUNODEFICIENCIES
- EVALUATION FOR SPECIFIC TYPES OF DISORDERS
- Antibody deficiency and defects
- - Measurement of antibody levels
- - Measurement of antibody function
- Measurement of immunoglobulin loss
- Defects in cellular immunity
- - Complete blood count with differential and blood smear
- Evaluation of lymphopenia
- - Cutaneous delayed-type hypersensitivity
- - Flow cytometry for cell populations
- Abnormalities in immunodeficiency
- - Advanced tests
- - In vitro studies of T cell function
- Response to mitogens
- Response to specific antigens
- - Chromosomal instability assays for radiation-sensitive patients
- Neutrophil defects (defects in phagocyte function)
- Complement defects
- Innate immune defects
- - Natural killer cell defects
- - Defects of IL-12/23-IFN-gamma pathways
- - Toll-like receptor pathway defects
- Advanced genomic studies
- SUMMARY AND RECOMMENDATIONS