Characterization of Chronic and Familial Immune Cytopenias

Abstract

Purpose: was to describe the features of basic clinical, laboratory, immunologic features and treatment responses of children and adolescents with chronic immune cytopenias. Patients and method: A retrospective study of patients with chronic immune cytopenia registered at Hematology clinic, Ain Shams University Children’s Hospital, Cairo, Egypt was performed. Patients with proved diagnosis of SLE and JIA were excluded. Clinical presentations, basic laboratory and immunological results were reviewed Results: Chronic autoimmune cytopenia was found in 180 patients, their age ranging from 2 to 192 months with median 60 months, 93 (51.7%) were males and 87 (48.3%) were females. Out of the 180 patients, chronic immune thrombocytopenia was the most commonly autoimmune cytopenia, It was diagnosed in 85 (47.2%) patients followed by autoimmune hemolytic anemia (AIHA) in 59(32.8%), 19(10.6%) had Evans syndrome (ES), 13(7.2%) patients met the diagnosis of autoimmune lymphoproliferative syndrome (ALPS), the remaining 4(2.2%) cases had underlying common variable immunodeficiency (CVID). Conclusion: Unexplained cytopenia becomes challenging and poses difficulty in diagnosis and management. Genetic testing, though expensive and sophisticated, yet is warranted to reach the diagnosis in some cases with chronic refractory cytopenia, with the goal of unravelling pathogenesis,advancing therapies and making them more targeted.