<strong>Background:</strong><span style="font-family:Verdana;"> Primary Immune Deficiencies (PID) are rare, under-determined </span><span style="font-family:"">&l...<strong>Background:</strong><span style="font-family:Verdana;"> Primary Immune Deficiencies (PID) are rare, under-determined </span><span style="font-family:""><span style="font-family:Verdana;">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. </span><b><span style="font-family:Verdana;">Aim: </span></b><span style="font-family:Verdana;">Our aim was to share the challenge of diagnosis and treatment in PID. </span><b><span style="font-family:Verdana;">Case Presentation:</span></b><span style="font-family:Verdana;"> 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 decrease</span></span><span style="font-family:Verdana;">d</span><span style="font-family:Verdana;"> level of lymphocytes CD19. We are looking for genetic confirmation but it is not easy. The treatment of these infants require</span><span style="font-family:Verdana;">s</span><span style="font-family:Verdana;"> a substitution for life of immunoglobulin w</span><span style="font-family:Verdana;">h</span><span style="font-family:Verdana;">ich </span><span style="font-family:Verdana;">is</span><span style="font-family:""><span style="font-family:Verdana;"> unavailable in our countries. </span><b><span style="font-family:Verdana;">Conclusion:</span></b><span style="font-family:Verdana;"> 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.</span></span>展开更多
文摘<strong>Background:</strong><span style="font-family:Verdana;"> Primary Immune Deficiencies (PID) are rare, under-determined </span><span style="font-family:""><span style="font-family:Verdana;">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. </span><b><span style="font-family:Verdana;">Aim: </span></b><span style="font-family:Verdana;">Our aim was to share the challenge of diagnosis and treatment in PID. </span><b><span style="font-family:Verdana;">Case Presentation:</span></b><span style="font-family:Verdana;"> 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 decrease</span></span><span style="font-family:Verdana;">d</span><span style="font-family:Verdana;"> level of lymphocytes CD19. We are looking for genetic confirmation but it is not easy. The treatment of these infants require</span><span style="font-family:Verdana;">s</span><span style="font-family:Verdana;"> a substitution for life of immunoglobulin w</span><span style="font-family:Verdana;">h</span><span style="font-family:Verdana;">ich </span><span style="font-family:Verdana;">is</span><span style="font-family:""><span style="font-family:Verdana;"> unavailable in our countries. </span><b><span style="font-family:Verdana;">Conclusion:</span></b><span style="font-family:Verdana;"> 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.</span></span>