Primary disorders of phagocytic function: An overview
- Francisco A Bonilla, MD, PhD
Francisco A Bonilla, MD, PhD
- Section Editor — Immunology and Immunodeficiency
- Associate Professor of Pediatrics
- Harvard Medical School
Susceptibility to infection from phagocytic dysfunction ranges from mild, recurrent skin infections to overwhelming, fatal systemic infection. Affected patients are more susceptible to bacterial and fungal infections, but have a normal resistance to viral infections. Most are diagnosed in infancy due to the severity of the infection or the unusual presentation of the organism, but some escape diagnosis until adulthood.
This topic review provides a brief overview of the types of defects and typical presentation of primary phagocytic disorders. The major disorders resulting from defects of phagocytic function are also briefly discussed. (Detailed discussions of these disorders are presented separately. See links in respective sections below.)
A detailed discussion of methods used in the evaluation of immune system function is found separately. (See "Laboratory evaluation of the immune system".)
TYPES OF DEFECTS
Phagocytic disorders may be divided into extrinsic and intrinsic defects:
●Extrinsic defects include opsonic abnormalities secondary to deficiencies of antibody and complement factors. Extrinsic factors may lead to neutropenia by suppression of granulocyte production, or cause a decrease in the number of circulating neutrophils via leukocyte autoantibodies or isoantibodies directed against neutrophil antigens.
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- TYPES OF DEFECTS
- TYPICAL PRESENTATION
- CHRONIC GRANULOMATOUS DISEASE
- LEUKOCYTE ADHESION DEFICIENCIES
- HYPERIMMUNOGLOBULIN E SYNDROMES
- MYELOPEROXIDASE DEFICIENCY
- CHEDIAK-HIGASHI SYNDROME
- NEUTROPHIL-SPECIFIC GRANULE DEFICIENCY
- CARD9 DEFICIENCY
- SHWACHMAN-DIAMOND SYNDROME
- PERIODONTITIS SYNDROMES
- MENDELIAN SUSCEPTIBILITY TO MYCOBACTERIAL DISEASE (MSMD)
- INFORMATION FOR PATIENTS