Diagnosis of primary immunodeficiencies in Peru

Primary immunodeficiencies (PIDs) are human inborn errors of immunity, leading to an increased susceptibility to infections, inflammatory manifestations, and malignancy. We estimate around 16 000 individuals with PIDs living in Peru who are still undiagnosed. The purpose of this review is to make a situational analysis of the diagnosis of PIDs in Peru.

There is an evident underdiagnosis of PIDs in Peru. Insufficient awareness and lack of diagnostic tools can be solved partially by expanding the number and expertise of Clinical Immunologists and specialized medical centers. The availability of molecular testing at reasonable costs is mandatory to improve the diagnostic approach to patients with suspected PID. The development of didactic and innovative educational tools has been a critical strategy to improve PID awareness and diagnosis in Peru.

Developing countries like Peru still have critical limitations to diagnose patients with PIDs such as insufficient awareness in physicians, lack of specialized reference centers, and unavailability of confirmatory genetic testing. Joint work between government, health professionals, patient organizations, and society is essential to overcome these limitations and provide a better future for patients with inborn errors of immunity.