Spectrum of Primary Immunodeficiencies and their Management: Barriers in a Resource-Limited Setting

To characterise the clinical presentation, diagnostic spectrum, and management challenges of primary immunodeficiencies (PIDs) in Pakistan, with an emphasis on barriers to early diagnosis and optimal care in a resource-limited setting.

A descriptive cross-sectional study. Place and Duration of the Study: Department of Immunology, Armed Forces Institute of Pathology / AFBMTC / CMH / NUMS, Rawalpindi, Pakistan, from September 2021 to September 2024.

Patients with PIDs were evaluated. Clinical characteristics, disease distribution, warning signs, consanguinity, family history, gender, and bone marrow transplantation were analysed. Age at diagnosis and diagnostic delay were reported as descriptive statistics.

A total of 185 patients with PIDs were diagnosed, including 116 (63%) males and 69 (37%) females. Parental consanguinity was reported in 144 (78%) cases, while 62 (34%) had a positive family history of PIDs. The most common category was phagocytic defects identified in 63 (34%) patients, followed by humoral defects in 51 (28%), combined immunodeficiencies in 39 (21%), complement deficiencies in 26 (14%), and other PIDs in 6 (3%). The mean age at diagnosis was 7.4 ± 9.3 years (0.1-38 years), with a mean diagnostic delay of 3.5 ± 4.7 years. Bone marrow transplantation was performed in 21 (11%) patients, with an overall survival rate of 80%.

PIDs are underdiagnosed in Pakistan due to limited awareness, lack of newborn screening, inadequate diagnostics, and high consanguinity. Improved clinician training, expanded diagnostic capacity, and a national PID registry are essential for earlier diagnosis and better outcomes.

Bone marrow transplant, Consanguinity, Diagnostic delay, Inborn error of immunity, Jeffrey Model Foundation warning signs, Primary immunodeficiencies.