Primary Immunodeficiencies (Pi) in Senegalese Children: A Series of 30 Cases

Abstract

Background: Primary immunodeficiencies are a group of about 400 diseases of genetic origin, they are considered as rare diseases. However, above 6 million people in the world would be affected, regardless of sex, age or geographical area. Few studies have been conducted in sub-Saharan Africa. The main objective of this study was to show existence of these diseases in West Africa and difficulties to manage it. The specific objectives were to identify the different clinical patterns of PI cases, to describe their biological phenotypes and to propose management. Method: A cross-sectional observational study over a period of 4 years and 2 months resulted in recruitment of children with either 2 or more signs among the 10 warning signs for PID or with signs described in the 10 recommendations for diagnosis of PID from African Society for Immunodeficiencies (ASID). Biological and immunological exploration were carried out in these patients. The diagnostic approach of PID for emerging countries according to the method of B. Admou and et al. was adopted. Results: 30 cases of PID were recorded. The sex ratio was 1; with a median age at diagnosis of 24 months. The most common clinical symptoms were respiratory infections, followed by digestive and then cutaneous manifestations. 10 children had immunological confirmation. One patient had genetic confirmation of WAS. The most common category of PID was syndromic PID. Management was limited, based mainly on antibiotic prophylaxis. The death of 5 patients was recorded. Conclusion: PI are a severe condition and certainly underestimated in Senegal. This is due to the lack of knowledge of these diseases by physicians but also to an insufficient access to diagnostic tools. The raising of the technical platform will allow better documentation of these diseases, and advocate for access to certain treatments such as immunoglobulins supplementation and bone marrow transplantation.