Jing Ruan1, Xuan Wang1, Xianyong Jiang1, Miao Chen2. 1. Hematology Department, Peking Union Medical College Hospital, Peking Union Medical College and Chinese Academy of Medical Sciences, Beijing, 100730, China. 2. Hematology Department, Peking Union Medical College Hospital, Peking Union Medical College and Chinese Academy of Medical Sciences, Beijing, 100730, China. chenmiaopumch@126.com.
Abstract
BACKGROUND: Pure 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 PRESENTATION: A 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. treatment CONCLUSION: AIRE is causally related to the development of LGLL and consequent PRCA, which may be due to some immunological mechanisms.
BACKGROUND: Pure 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 PRESENTATION: A 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. treatment CONCLUSION:AIRE is causally related to the development of LGLL and consequent PRCA, which may be due to some immunological mechanisms.
Entities:
Keywords:
AIRE gene mutation; Autoimmune polyendocrine syndrome type 1; Large granular lymphocytic leukaemia; Pure red cell aplasia
Authors: R Handgretinger; A Geiselhart; A Moris; R Grau; O Teuffel; W Bethge; L Kanz; P Fisch Journal: N Engl J Med Date: 1999-01-28 Impact factor: 91.245
Authors: T Hara; Y Mizuno; M Nagata; Y Okabe; S Taniguchi; M Harada; Y Niho; K Oshimi; S Ohga; Y Yoshikai Journal: Blood Date: 1990-02-15 Impact factor: 22.113