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Primary phagocytic disorders of childhood
1Divisions of Infectious Diseases and Allergy, Immunology, and Rheumatology, State University of New York at Buffalo, Roswell Park Cancer Institute, Buffalo, New York, USA. Brahm.Segal@roswellpark.org
Insights
Primary phagocytic disorders, rare conditions affecting neutrophil function, cause severe infections. Early diagnosis and treatment are crucial for saving lives and reducing illness in affected children and adults.
Area of Science:
- Immunology
- Pediatrics
- Genetics
Background:
- Primary phagocytic disorders are rare genetic conditions typically presenting in childhood.
- These disorders are characterized by recurrent, severe infections from common or opportunistic pathogens.
Purpose of the Study:
- To review the clinical manifestations, diagnostic approaches, and management strategies for primary phagocytic disorders.
- To emphasize the importance of early diagnosis for improving patient outcomes.
Main Methods:
- Review of clinical presentations, including soft-tissue, dental, pulmonary, and perirectal infections.
- Discussion of diagnostic criteria based on neutrophil number or function defects (oxidative and nonoxidative pathways).
- Overview of current and emerging therapeutic interventions.
Main Results:
- Common signs include severe, recurrent infections and unique clinical features aiding diagnosis.
- Defects in neutrophil number or function underlie these disorders.
- Effective management involves prompt infection treatment, surgical intervention, and specific therapies.
Conclusions:
- Early identification of phagocytic disorders through clinical history and lab studies is vital.
- Management requires aggressive infection control, surgical care, and targeted treatments like bone marrow transplant (BMT) or cytokine therapy.
- Gene therapy offers a promising future treatment avenue.
Abstract:
Primary phagocytic disorders are rare and usually first manifest during childhood. A phagocytic disorder should be considered in patients with unusually severe or recurrent infections by common pathogens or an infection by certain opportunistic pathogens. Common manifestations of primary phagocytic disorders include recurrent soft-tissue infections requiring incision and drainage, severe dental infections leading to premature tooth loss, recurrent pneumonias, and perirectal infections. Primary phagocytic disorders are caused by defects of neutrophil number or function, and the latter, in turn, can be divided into disorders of oxidative and nonoxidative pathways. Certain phagocytic disorders have unique characteristics apart from the immune defect that may facilitate diagnosis. Early diagnosis of phagocytic disorders can be life-saving or lead to a significant reduction in morbidity and relies on a compatible clinical (or family) history and appropriate laboratory diagnostic studies. Key principles of management of such patients involve early recognition and aggressive treatment of infections and appropriate surgical débridement of localized disease. Prophylactic antibiotics, BMT, and the use of exogenous cytokines, such as IFN-gamma and G-CSF, are appropriate for specific phagocytic disorders. Gene therapy is a promising strategy for several of the phagocytic disorders.