Intractable Rare Dis Res. 2026;15(2):173-182. (DOI: 10.5582/irdr.2025.01074)

Understanding the disease burden and unmet needs of patients with primary immunodeficiency in China: A quantitative study

Li L, Chen Y, He Z, Li Q, Huang R

To quantitatively describe the disease burden and living status of patients with primary immunodeficiency (PID) in China, a descriptive, nationwide cross-sectional survey was conducted in September 2024 via a patient organization, yielding 435 valid responses. Among respondents, 82% were male and 77% were pediatric; antibody deficiencies were the most common category (63%), with X-linked agammaglobulinemia (49%) being the most frequent self-reported subtype. The mean diagnostic delay was 3 years, with 45.2% waiting over 1 year and 78.6% experiencing prior misdiagnosis or missed diagnosis. Although 82% received immunoglobulin therapy, only 7% reported being relatively healthy without complications. Health-related quality of life (HRQoL) utility values, measured via EQ-5D instruments, were 0.87 for children and 0.84 for adults, appearing lower than reference population norms. Educational disruption affected 25.1% of pediatric patients, while 27% of adult patients were unemployed and 47.1% required frequent sick leave. Caregiving demands were extensive, with 53.4% of pediatric patients requiring dedicated care, resulting in 51.5% of their primary caregivers resigning from their jobs. In conclusion, PID imposes substantial medical, psychological, and socioeconomic burdens in China. These descriptive findings highlight an urgent need for earlier diagnosis, improved therapeutic access, and integrated societal support systems for education, employment, and caregiving.

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