title: Autoimmune lymphoproliferative syndrome: report of two cases and review of the literature.
abstract: Autoimmune lymphoproliferative syndrome (ALPS) is a rare disease occurring in childhood. Recently, it has been shown that heritable mutations in Fas or Fas ligand genes, which regulate lymphocyte survival by triggering apoptosis of lymphocytes, are the most frequent cause of ALPS. Patients with ALPS frequently have lymphadenopathy, splenomegaly and hepatomegaly, especially at young ages. A positive result of the Direct Coomb's test, autoimmune hemolytic anemia, and idiopathic thrombocytopenic purpura are the most common features of autoimmunity in patients with ALPS. Elevated numbers and percentages (>1%) of double-negative (CD4-CD8-) T cells, and characteristic pathologic findings in lymph nodes or spleen are other important diagnostic features. In this report, we present the clinical, immunologic, and pathologic features of two children who were diagnosed with ALPS. The early recognition of ALPS in children with enlarged lymph nodes, hepatosplenomegaly, and autoimmune hematologic features has important diagnostic and prognostic value in avoiding expensive and time-consuming studies and unnecessary treatments. The ratio of CD4-CD8- T cells, immunoglobulin levels and the histopathologic features of lymph nodes should be rapidly determined in these patients in order to establish an early diagnosis and treatment.
authors.affiliation: Department of Pediatric Hematology, Dokuz Eylül University Faculty of Medicine, 35340 Balçova, Izmir, Turkey. hale.oren@deu.edu.tr
authors.forename: Hale
authors.initials: H
authors.lastname: Oren
authors.forename: Sermin
authors.initials: S
authors.lastname: Ozkal
authors.forename: Hüseyin
authors.initials: H
authors.lastname: Gülen
authors.forename: Murat
authors.initials: M
authors.lastname: Duman
authors.forename: Canan
authors.initials: C
authors.lastname: Uçar
authors.forename: Berna
authors.initials: B
authors.lastname: Atabay
authors.forename: Sebnem
authors.initials: S
authors.lastname: Yilmaz
authors.forename: Aydanur
authors.initials: A
authors.lastname: Kargi
authors.forename: Gülersu
authors.initials: G
authors.lastname: Irken
mesh_terms: D001327:Autoimmune Diseases / Q000175:diagnosis*; D005260:Female; D006529:Hepatomegaly; D006801:Humans; D016130:Immunophenotyping; D007223:Infant; D008198:Lymph Nodes / Q000473:pathology; D008232:Lymphoproliferative Disorders / Q000175:diagnosis* / Q000276:immunology; D013163:Splenomegaly; D016176:T-Lymphocyte Subsets / Q000276:immunology