Uganda Launches IEI Screening Project as Genetic Studies Map Immune Disorders

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 Inborn Errors of Immunity (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. 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. “Early detection allows us to provide better care and improve their survival,” said the project’s principal investigator. A paediatrician at Mulago said the hospital’s Genetics and Immunology Clinic has registered 12 suspected cases since January 2025, with only one patient confirmed with Job syndrome, one of the rarest forms of IEI. 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.

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. IEI management is often lifelong, and children may require immunoglobulin replacement therapy monthly, weekly or twice a year, or medication to regulate immune responses.

A study set out to characterize gene expression changes as a result of microbial in vitro stimulation in medium-cultured human primary immune cells, using four pathogen ligands representing bacteria (LPS and S. aureus), viruses (Poly(I:C)) and fungi (C. albicans) for 4 and 24 hours, resulting in a total of 52 samples for analysis. The study highlighted genes without a known function that were differentially expressed as a common effect of pathogen stimulation, including uncharacterized genes such as KIAA0040 and CYRIA, co-expressed with genes involved in innate immunity and downstream signaling from the PRRs, respectively. Linking differential expression data to IEI, the study identified 901 variants in uncharacterized genes in a cohort of patients with rare immune disorders, prioritizing 5 candidate variants in 4 genes that could underlie these diseases.

Another study assessed genetic variation in 23 genes associated with humoral IEIs, the most commonly diagnosed subtype characterised by antibody deficiencies, using genotype frequency data from the African Genome Variation Database (AGVD). A total of 815 variants were identified; 335 were present in African populations, and 219 were unique to African populations. Most were missense mutations; 4 variants identified in TCF3 and RAG1/2 were classified as pathogenic or likely pathogenic. Additionally, 144 variants (43%) were not listed in ClinVar; of these, 53 were predicted to be deleterious. Some variants exhibited high genotype frequencies (e.g., up to 0.67 in CR2), suggesting possible adaptive functions or population-specific relevance.

The Mulago 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.