RESUMO
Primary immunodeficiencies are inherited disorders, which may be revealed in the context of autoimmune hemolytic anemia (AIHA). We report the case of a girl presenting with an enterovirus-related AIHA. Despite being in complete remission for her anemia after treatment, the initial CD4/CD8 lymphopenia dramatically worsened with time. Its sole clinical presentation was generalized verrucosis. Cellular quantitative and functional immunodeficiency was evidenced but no known molecular defect was identified despite extensive workup. This unlabeled profound naive T-lymphopenia was cured by bone marrow transplantation. No similar case was ever described in the scientific literature. Patients with AIHA and/or generalized verrucosis should be screened for primary immunodeficiency, before initiating any immunomodulatory treatment.
Assuntos
Anemia Hemolítica Autoimune/tratamento farmacológico , Elefantíase/patologia , Linfopenia/patologia , Esteroides/efeitos adversos , Linfócitos T/imunologia , Anemia Hemolítica Autoimune/patologia , Criança , Terapia Combinada , Elefantíase/induzido quimicamente , Elefantíase/terapia , Feminino , Humanos , Linfopenia/induzido quimicamente , Linfopenia/terapia , Prognóstico , Linfócitos T/efeitos dos fármacosRESUMO
Beta thalassemia major (ßTM) is the most common inherited hemoglobinopathy. Management essentially focuses on preventing and treating complications. Conventional treatment is based on a regular blood transfusion program, and chelation therapy. Management essentially focuses on preventing and treating complications. Severe complications of ßTM are very rarely seen in children in Europe. In the context of the migrant crisis, pediatricians will be confronted with the challenge of managing severe complicated ßTM. We report the case of 2 Syrian 10-year-old twin girls who arrived to France with numerous and severe complications of ßTM: hemochromatosis, alloimmunization, hypopituitarism, osteopenia Their clinical management, which led to successful vital and functional improvement, is reported in this article.