EXPLORATION OF PRIMARY IMMUNODEFICIENCY: DIAGNOSTIC APPROACH AND CURRENT STATUS IN MAURITANIA

Primary immunodeficiencies (PIDs) are a heterogeneous group of inherited disorders of the immune system, often severe and still underdiagnosed in low-resource settings. Their clinical expression is highly variable, ranging from recurrent or unusual infections to complex syndromic presentations. This article reviews a practical diagnostic approach to PIDs and highlights the current situation in Mauritania based on local clinical experience. Clinical suspicion remains the cornerstone of diagnosis and should be raised in the presence of severe, persistent, recurrent, or unusual infections. Initial work-up relies on simple first-line investigations, including complete blood count, HIV testing, serum protein electrophoresis, and quantitative immunoglobulins, followed, when possible, by lymphocyte phenotyping and genetic characterization. In Mauritania, underdiagnosis is favored by limited awareness, lack of a national registry, restricted technical resources, and poor availability of some essential therapies. Strengthening physician awareness, developing diagnostic capacity, and improving access to immunoglobulins and specialized care are necessary to improve outcomes.