Acquired pure red cell aplasia and T cell large granular lymphocytic leukaemia in patients with autoimmune polyglandular syndrome type 1

Jing Ruan,Xianyong Jiang,Miao Chen,Xuan Wang

doi:10.1186/s12920-020-00866-y

Abstract

BackgroundPure red cell aplasia (PRCA) and large granular lymphocytic leukaemia (LGLL) are very rare complications of autoimmune polyendocrine syndrome type 1 (APS1). Here, we report a case of APS1 with PRCA and LGLL. Previous cases were reviewed, and possible mechanisms are discussed.Case presentationA 31-year-old female presented with anaemia and was diagnosed with PRCA in our centre. She also had hypoparathyroidism for 24 years, premature ovarian failure for 10 years, osteoporosis for 5 years, recurrent pneumonia with bronchiectasis for 4 years and chronic diarrhoea for 1 year. Boosted whole-exome analysis showed AIRE heterozygous mutations, confirming the diagnosis as APS1. LGLL was diagnosed during follow-up. The PRCA responded well to glucocorticoid. treatmentConclusionAIRE is causally related to the development of LGLL and consequent PRCA, which may be due to some immunological mechanisms.

Highlights

Pure red cell aplasia (PRCA) and large granular lymphocytic leukaemia (LGLL) are very rare complications of autoimmune polyendocrine syndrome type 1 (APS1)
autoimmune regulator (AIRE) is causally related to the development of LGLL and consequent PRCA, which may be due to some immunological mechanisms
Pure red cell aplasia (PRCA) is a syndrome defined by anormocytic normochromic anaemia with severe reticulocytopaenia and marked reduction or absence of erythroid precursors from the bone marrow [1]

Summary

Introduction

Pure red cell aplasia (PRCA) and large granular lymphocytic leukaemia (LGLL) are very rare complications of autoimmune polyendocrine syndrome type 1 (APS1). Conclusion: AIRE is causally related to the development of LGLL and consequent PRCA, which may be due to some immunological mechanisms. Secondary acquired PRCA may be associated with lymphoproliferative disorders, such as T cell large granular lymphocytic leukaemia (T-LGLL) [2], which is a monoclonal disorder of CD8-positive suppressor T cells. We report a patient who presented with PRCA and T-LGLL and was diagnosed with autoimmune polyglandular syndrome type 1 (APS-1).

Results

Conclusion