Lessons learned from phagocytic function studies in a large cohort of patients with recurrent infections

Abstract

Background: There is a paucity of data on the relationship between demographic characteristics, specific clinical manifestations, and neutrophil dysfunction, guiding physicians to decide which clinical signs and symptoms are a code for an underlying phagocytic disorder.

Methods: The data over a 21-year period of all adult and pediatric patients referred to our Laboratory for Leukocyte Functions with recurrent pyogenic infections were analyzed. Neutrophil function studies included chemotaxis, superoxide production (SOP), bactericidal activity (BA), and specific studies in case of suspected primary phagocytic disorder (PPD).

Results: Neutrophil dysfunction was found in 33.6% of 998 patients; chemotaxis in 16.6%, SOP in 6%, and BA in 24.5%. The younger the patient and the more organ systems involved, the greater the probability of finding phagocytic impairment. Impaired chemotaxis correlated with recurrent aphthous stomatitis, infections associated with elevated IgE, and purulent upper respiratory tract infections. Impaired SOP and BA correlated with deep-seated abscesses, recurrent lymphadenitis, sepsis, and bone and joint and central nervous system infections. PPDs were identified in 5.7%, chronic granulomatous disease in 4.8%, neutrophil glucose-6-phosphate dehydrogenase deficiency in 0.3%, leukocyte adhesion deficiency type 1 in 0.4%, and myeloperoxidase deficiency in 0.2%. Phagocytic evaluation contributed to the diagnosis of hyperimmunoglobulin-E syndrome (n = 21) and Chediak-Higashi syndrome (n = 3).

Conclusions: PPDs are identified in 5.7% of patients with recurrent pyogenic infections; in the remainder, phagocytic dysfunction may be related to deleterious effects of persistent infection, drug consumption, or disorders not yet established.