Journal
BMC MEDICAL GENOMICS
Volume 14, Issue 1, Pages -Publisher
BMC
DOI: 10.1186/s12920-020-00866-y
Keywords
Pure red cell aplasia; Large granular lymphocytic leukaemia; Autoimmune polyendocrine syndrome type 1; AIRE gene mutation
Categories
Funding
- National Natural Science Foundation of China (NSFC) [81970106]
Ask authors/readers for more resources
This case report presents a female patient with APS1, PRCA, and LGLL, indicating a complex condition that responded well to glucocorticoid treatment. The casual relationship between AIRE and the development of LGLL and PRCA suggests potential 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.
Authors
I am an author on this paper
Click your name to claim this paper and add it to your profile.
Reviews
Recommended
No Data Available