Autoimmune Lymphoproliferative Syndrome with Red Cell Aplasia

Abstract

Autoimmune Lymphoproliferative Syndrome (ALPS) is a rare inherited disorder of abnormal lymphocyte apoptosis, leading to chronic lymphoproliferation. It presents as lymphadenopathy, hepatosplenomegaly and autoimmune phenomena. Pure red cell aplasia is characterized by normochromic normocytic anemia, reticulocytopenia, and absence of erythroblasts from a normal bone marrow. Only few lymphoproliferative disorders have been associated with erythroid aplasia. The authors are reporting a case of ALPS associated with red cell aplasia in a 7-y-old girl.

Primary immunodeficiency and autoimmunity: A comprehensive review

“…Lymphoproliferative disorders are the most common clinical presentation and may include lymphadenopathy, mild to moderate hepatomegaly, or generally moderate splenomegaly that persists throughout life [18]. Autoimmunity is the second most common clinical manifestation, primarily characterized by cytopenias (i.e., AIHA, ITP and AIN) [18,226,227]. Patients with ALPS and other family members have a high risk of developing malignancy, mostly Bcell lymphomas [225].…”