Adult primary immune deficiency: what are we missing?

Area of Science:

• Immunology
• Adult Medicine
• Clinical Diagnostics

Background:

• Over 200 primary immune deficiencies (PIDs) exist, often difficult to diagnose in adults.
• Delayed diagnosis and treatment are common due to referral, diagnostic, and expertise limitations.
• Increasing adult PID diagnoses necessitate better understanding of immune deficits in this population.

Purpose of the Study:

• To analyze the diagnostic spectrum of primary immune deficiency in adults.
• To assess the diagnostic accuracy of referring physicians for adult primary immune deficiency.

Main Methods:

• Retrospective chart review of individuals referred to a dedicated adult PID center over 10 years.
• Confirmation of suspected cases using standard clinical criteria and advanced immune assays.

Main Results:

• 244 of 381 individuals were diagnosed with immune deficiency (64%).
• 210 had primary immune deficiency (novel, defined, undefined); 43 had prior diagnoses.
• Common variable immune deficiency was most frequent; only one-third had prior immunoglobulin assessment.

Conclusions:

• Confirmed diagnosis in two-thirds of adult patients with suspected immune deficiency.
• Demonstrated a wide spectrum of PIDs in adult medical practice.
• Emphasized the need for increased clinician awareness of adult PIDs.