New screening drive targets hidden immune diseases in Ugandan children

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For years, some Ugandan children have repeatedly fallen ill with pneumonia, skin infections, allergies or sepsis, only to recover temporarily and then fall sick again.

Paediatric experts now say many of these children may be living with Inborn Errors of Immunity (IEI), a group of rare genetic disorders that weaken the immune system from birth.

On February 20, 2026, Mulago National Referral Hospital launched a 20-month project aimed at improving early detection and access to care for children with IEI. The initiative, Improving Access to Quality Care for Inborn Errors of Immunity Using Low-Cost Screening Techniques, also known as IMPACT-IEI, is supported by the Uganda Paediatric Association and other patient organisations.

“These conditions have been with us for a long time, but we have been missing these children. If we miss the diagnosis, children have poor outcomes. Early detection allows us to provide better care and improve their survival,” said Dr Nicolette Nabukeera Barungi, associate professor of paediatrics and principal investigator of the project.

IEIs, formerly known as primary immunodeficiencies, are genetic disorders that affect the immune system. More than 500 types exist, with a global prevalence estimated at between 1 in 1,000 and 1 in 5,000 people. Children with IEI often present with frequent and severe infections, persistent skin problems, serious allergies or a family history of similar illnesses.

Dr Lucy Amanio, a paediatrician at Mulago, said the hospital’s Genetics and Immunology Clinic has registered 12 suspected cases since January 2025. Only one patient has been confirmed with Job syndrome, one of the rarest forms of IEI.

“Even though these disorders are rare, confirming a diagnosis allows us to give the child targeted care and significantly improve their quality of life,” Dr Amanio said.

Dr Amanio explained that diagnosis begins with a complete blood count. If the results raise suspicion, children are tested for immunoglobulins, the antibodies that fight infections. A full panel of tests conducted outside research projects costs about sh500,000, while genetic testing, which is often sent abroad, can cost between $2,500 and $3,000, putting it beyond the reach of most families.

Under the IMPACT-IEI project, every child admitted to Mulago’s Acute Care Unit will be screened, and immunoglobulin testing for parents will also be carried out to identify hereditary patterns. The hospital will provide treatment regimens using available equipment, and testing under the project will be offered free of charge.

Dr Amanio noted that IEI management is often lifelong. Children may require immunoglobulin replacement therapy monthly, weekly or twice a year, or medication to regulate immune responses. Early detection improves outcomes, reduces hospital admissions and enables affected children to lead more normal lives.

“Management is expensive, but timely diagnosis can save lives,” Dr Amanio said.

Dr John Sekabira, acting deputy executive director of Mulago, said the project is critical in raising awareness among health workers and carers.

“This initiative will improve outcomes for these special patients,” he said. “We pledge to support this project because early diagnosis and proper management can change lives.”

The launch highlighted gaps in Uganda’s healthcare system, including limited awareness of rare genetic disorders and the absence of in-country genetic testing facilities. Experts hope the project will not only enable early detection but also encourage policy reforms and health system support to expand screening nationwide.

“If we can diagnose early, we can change the course of these children’s lives,” Dr Nabukeera said.