Primary Immune Deficiencies (PID): Diagnosis Challenges

摘要

Background: Primary Immune Deficiencies (PID) are rare, under-determined diseases particularly in sub-Saharan Africa. The diagnosis is often suspected with uncommon clinical signs. Infections are the main diagnostic circumstances in infants. Confirmation is often difficult because some additional examinations are unavailable in many of our countries. Aim: Our aim was to share the challenge of diagnosis and treatment in PID. Case Presentation: It is about two infants, a boy and a girl, with early several infections. Both of them presented a hypo-gammaglobulinemia and to the boy, the immuno-phenotyping lymphocyte showed a decreased level of lymphocytes CD19. We are looking for genetic confirmation but it is not easy. The treatment of these infants requires a substitution for life of immunoglobulin which is unavailable in our countries. Conclusion: PID are suspected with atypical clinical signs. Confirmation genetic diagnosis is difficult in low income countries. To improve the follow up, we need to strengthen clinical-biological collaboration.