Acquired Pure Red Cell Aplasia and Acquired Amegakaryocytic Thrombocytopenia Associated With Clonal Expansion of T-Cell Large Granular Lymphocytes in a Patient With Lipopolysaccharide-responsive Beige-like Anchor (LRBA) Protein Deficiency. Issue 8 (November 2019)

• Record Type: Journal Article
• Authors: Rajpurkar, Madhvi; Buck, Steven; Lafferty, Jennifer; Wakeling, Erin; Ravindranath, Yaddanapudi; Savaşan, Süreyya
• Is Part Of: Journal of pediatric hematology/oncology. Volume 41:Issue 8(2019)
• Publication Date: 2019-11
• Subjects: T-cell large granular lymphocytes -- immunodeficiency -- pure red cell aplasia -- thrombocytopenia; Pediatric hematology -- Periodicals; Tumors in children -- Periodicals; 618.9215
• DOI: 10.1097/MPH.0000000000001292
• Languages: English
• ISSNs: 1077-4114

Abstract

Abstract : Acquired pure red cell aplasia and acquired amegakaryocytic thrombocytopenic purpura are rare in children. Similarly, clonal expansion of T-cell large granular lymphocytes is infrequently seen in pediatrics. Lipopolysaccharide-responsive beige-like anchor (LRBA) protein deficiency is a recently described immunodeficiency syndrome that has been associated with inflammatory bowel disease and autoimmune phenomena such as Evans syndrome. Here, we describe a patient with LRBA deficiency who developed acquired pure red cell aplasia and acquired amegakaryocytic thrombocytopenic purpura associated with expansion of clonal T-cell large granular lymphocytes. This has not been described in the literature previously and adds to the knowledge on the spectrum of manifestations of LRBA deficiency.