Diagnosis of primary immunodeficiency; can review of medical history help?

Abstract

Rationale Primary immunodeficiency (PI) diseases can be treated effectively, especially if recognized early. We studied patients referred to a large immunodeficiency program for a suspicion of PI, asking if historical clinical information would allow us to identify patients with PI. Methods New patients referred to Mount Sinai Hospital, New York City, from 1998-2003 were studied. Clinical information for the previous 5 years was compiled on initial visit by standard questionnaire. Each patient then underwent laboratory testing for PI. Subjects diagnosed with PI and those with a negative immunologic evaluation were compared. Data was analyzed using SAS and Excel statistical software. Results 240 patients were evaluated. 113 had PI (47%). 54% were females. 70% were Caucasians; 30% were children <5 years old. Multiple episodes of pneumonia, bronchitis, and sinusitis were the most common historical illnesses. Chronic otitis media was seen twice as often in the PI group ( p=0.0001). Neutropenia, lymphopenia and splenomegaly were also seen more in patients with proven PI ( p value of 0.02, 0.01, 0.01). Conclusions The data suggests that out of this group of patients referred to a tertiary referral clinic, many of whom have had episodes of pneumonias, bronchitis and chronic sinusitis, patients with proven PI are more likely to have more frequent episodes of otitis media and neutropenia, lymphopenia and splenomegaly.