Overview:
Inborn Errors of Immunity (IEIs), formerly known as primary immunodeficiency, are over 550 distinct, inherited, monogenic disorders in which genetic mutations cause a dysfunctional immune system.
Mulago National Referral Hospital is set to start a screening and diagnosis project for children with Inborn Errors of Immunity (IEI).
Inborn Errors of Immunity (IEIs), formerly known as primary immunodeficiency, are over 550 distinct, inherited, monogenic disorders in which genetic mutations cause a dysfunctional immune system.
They result in severe, recurrent infections, autoimmunity, autoinflammation, allergies, or malignancies. These conditions require early detection for effective treatment.
Dr. Nicholate Nabukeera Balungi, the head of the project and principal investigator, said that globally, 70 to 90 percent of IEI cases remain undiagnosed, leaving the primary problem untreated.
This is especially common in low- and middle-income countries, including Uganda, because diagnosing IEI is expensive.
Dr. Nicholate Barungi mentioned that some patients delay for up to five years while only treating symptoms due to the lack of proper diagnosis.
She also noted that in Uganda, the IEI diagnostic system is not well established, and there is no clear registry where cases are recorded to support advocacy based on the number of people affected.
Now, Mulago National Referral Hospital seeks to improve systematic screening to ensure correct diagnosis, enhance the quality of care, and assess the proportion of the population affected by the condition.
Dr. Lucy Amaniyo, an associate consultant in the Department of Pediatrics and Child Health and the pediatrician who runs the Genetics and Immunology Clinic that screens and manages children with IEIs at Mulago National Referral Hospital, said that although IEI conditions are rare, they occur in about 500 patients per 1,000,000 people.
Currently, at Mulago Hospital, Dr. Amaniyo said they can carry out a Complete Blood Count (CBC), which provides a snapshot of what is happening in a patient’s immune system. Once a suspicious CBC result is identified, the patient is referred for immunoglobulin testing to measure the antibodies that fight infections in the body.
Dr. Amaniyo said the project will be centered at Mulago National Referral Hospital because it receives patients from all over the country. For a start, they hope to increase awareness among communities and health workers, including those outside Mulago Hospital.
Kabanda Zubeda Lucky, a resident of Kitende and a mother who lost a child to an immune disorder, and whose two other children have the same condition, said that treatment is very expensive. She asked the government to make the drugs available and provide subsidies for the medicines.
She also appealed to the government to empower health workers to study more about the condition, noting that many health workers have limited knowledge about IEI.
The project is expected to run for 20 months and will focus only on children, who are the most affected, although adults can also be affected by the condition.
Children will be screened and diagnosed free of charge during the 20 months the project will be running.
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