Introduction: Autoimmune lymphoproliferative syndrome is a primary immunodeficiency with lymphocyte homeostasis disorder due to apoptosis defect. Clinical Case: A 7-year-old female PBR patient from rural areas; with a history since 2 years of age of recurrent fever, associated with respiratory infections and accompanied by purpuric syndrome. No evidence of thrombocytopenia, up to the age of 5 years there is severe thrombocytopenia of 30×109/L, hematomas, petechiae and splenomegaly in the course of infectious picture. The initial bone marrow study reported, integrity of all three systems and refers to hemostasis and immunology consultations. In the complementary studies it stands out: marked eosiphilia, IgA deficiency, negative antinuclear and antiplatelet antibodies, without proven infectious causes of eosinophilia and thrombocytopenia. Three months later, anemia with reticulocytosis, leukopenia, increased splenomegaly and cervical lymphadenopathy appeared. Bone marrow biopsy shows hyperplasia of the erythropoietic and granulopoietic systems with eosinophilia and megacaripoietic hypoplasia. In peripheral blood, the direct antiglobulin test by flow cytometry is positive for anti IgA and anti IgM, with study of lymphocyte subpopulations TCRβα positive CD4-CD8- in 8.48%. A probable diagnosis of autoimmune lymphoproliferative syndrome is suggested and steroid treatment with transient haematological clinical remission is initiated. After seven months of immunosuppressive and antiproliferative therapy with prednisone, cyclophosphamide, methotrexate, intravenous immunoglobulin, mycophenolatemofetil and rituximab; It evolves unfavorably with worsening of cytopenias and with it, of immune, hemostatic and tissue oxygenation efficiency with hemodynamic imbalance, sepsis and death.
Conclusions: The multidisciplinary, timely and integrated follow-up of patients diagnosed with autoimmune lymphoproliferative syndrome is complex and necessary due to the frequent reserved prognosis of the clinical evolution of these patients.
Keywords: autoimmune lymphoproliferative syndrome, cytopenias, immunodeficiency