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Diagnostic Delay of Primary Immunodeficiencies at a Tertiary Care Hospital in Peru- Brief Report
Liz E Veramendi-Espinoza1, Jessica H Zafra-Tanaka2, Gabriela A Pérez-Casquino2
1Universidad Nacional Mayor de San Marcos, Facultad de Medicina Humana San Fernando, Lima, Peru. eliana.veramendi@gmail.com.
Insights
Pediatric patients with primary immunodeficiencies (PID) in Peru experienced a median diagnostic delay of 12 months. Early PID detection is crucial but hindered by complex, expensive tests and requires improved healthcare professional training and collaboration.
Area of Science:
- Immunology
- Pediatrics
- Public Health
Background:
- Primary immunodeficiencies (PID) are a group of rare genetic disorders affecting the immune system.
- Timely diagnosis and treatment of PID are essential for preventing severe infections and long-term complications.
- Diagnostic delays in PID contribute to increased morbidity and mortality, particularly in resource-limited settings.
Purpose of the Study:
- To evaluate the diagnostic delay for pediatric patients diagnosed with primary immunodeficiencies (PID) at a tertiary care hospital in Peru.
- To identify the most common types of PID and their associated diagnostic timelines.
- To highlight challenges and propose strategies for improving PID diagnosis in the region.
Main Methods:
- A descriptive study was conducted at a tertiary care hospital in Peru.
- Medical records of pediatric patients diagnosed with PID were reviewed.
- Data collection included patient interviews with family members to ascertain diagnostic timelines.
Main Results:
- The study included 45 pediatric patients with a mean age of 7.4 years.
- The most frequent PID diagnosis was predominant antibody defects, accounting for 35.5% of cases.
- The median diagnostic delay for PID was 12.17 months (IQR 5.1-30.3 months).
Conclusions:
- Predominant antibody deficiency was the most commonly diagnosed PID group.
- Median diagnostic delays for PID and predominant antibody deficiency were 12 and 14 months, respectively.
- Addressing diagnostic delays requires training non-specialist healthcare professionals, and fostering multidisciplinary, multi-center collaboration, given the complexity and cost of current diagnostic tests.
Objective:
The aim of the study was to assess the diagnostic delay in pediatric patients with primary immunodeficiencies (PID) at a tertiary care hospital in Peru.
Methods:
A descriptive study was carried out in which patients from a third-level referral center in Peru were included. Those without a specific diagnosis of PID were excluded. Data was collected by reviewing the medical records and interviewing patients' family members.
Results:
A total of 45 patients with a mean of 7.4 years (SD = 4.3) were studied. The most frequent diagnosis was predominant antibody defects (35.5%), and the diagnostic delay had a median of 12.17 months (IQR 5.1-30.3).
Conclusions:
The most frequently diagnosed group of PID was predominant antibody deficiency. The overall median diagnostic delays for PID and predominant antibody deficiency were 12 and 14 months, respectively. Even though early detection of PIDs is crucial for effective treatment, current available laboratory tests required for PID diagnosis are both complex and expensive. Early detection and management of these pathologies cannot be achieved without training non-specialist health professionals in the diagnosis of PID, as well as integrating multidisciplinary and multi-center cooperation at both national and international levels.

