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

Madhvi Rajpurkar, Steven Buck, Jennifer Lafferty, Erin Wakeling, Yaddanapudi Ravindranath, Süreyya Savaşan

Research output: Contribution to journalArticlepeer-review

4 Scopus citations

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.

Original languageEnglish
Pages (from-to)E542-E545
JournalJournal of Pediatric Hematology/Oncology
Volume41
Issue number8
DOIs
StatePublished - Nov 1 2019

Keywords

  • T-cell large granular lymphocytes
  • immunodeficiency
  • pure red cell aplasia
  • thrombocytopenia

Fingerprint

Dive into the research topics of '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'. Together they form a unique fingerprint.

Cite this