Acquired pure red cell aplasia and T cell large granular lymphocytic leukaemia in patients with autoimmune polyglandular syndrome type 1
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. Cas...
| Main Authors: | , , , |
|---|---|
| Format: | Article |
| Language: | English |
| Published: |
BMC
2021-01-01
|
| Series: | BMC Medical Genomics |
| Subjects: | |
| Online Access: | https://doi.org/10.1186/s12920-020-00866-y |
| _version_ | 1818611815649640448 |
|---|---|
| author | Jing Ruan Xuan Wang Xianyong Jiang Miao Chen |
| author_facet | Jing Ruan Xuan Wang Xianyong Jiang Miao Chen |
| author_sort | Jing Ruan |
| collection | DOAJ |
| description | 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. |
| first_indexed | 2024-12-16T15:36:20Z |
| format | Article |
| id | doaj.art-815b9f4610094afe856b7899401de23e |
| institution | Directory Open Access Journal |
| issn | 1755-8794 |
| language | English |
| last_indexed | 2024-12-16T15:36:20Z |
| publishDate | 2021-01-01 |
| publisher | BMC |
| record_format | Article |
| series | BMC Medical Genomics |
| spelling | doaj.art-815b9f4610094afe856b7899401de23e2022-12-21T22:26:09ZengBMCBMC Medical Genomics1755-87942021-01-011411510.1186/s12920-020-00866-yAcquired pure red cell aplasia and T cell large granular lymphocytic leukaemia in patients with autoimmune polyglandular syndrome type 1Jing Ruan0Xuan Wang1Xianyong Jiang2Miao Chen3Hematology Department, Peking Union Medical College Hospital, Peking Union Medical College and Chinese Academy of Medical SciencesHematology Department, Peking Union Medical College Hospital, Peking Union Medical College and Chinese Academy of Medical SciencesHematology Department, Peking Union Medical College Hospital, Peking Union Medical College and Chinese Academy of Medical SciencesHematology Department, Peking Union Medical College Hospital, Peking Union Medical College and Chinese Academy of Medical SciencesAbstract 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.https://doi.org/10.1186/s12920-020-00866-yPure red cell aplasiaLarge granular lymphocytic leukaemiaAutoimmune polyendocrine syndrome type 1AIRE gene mutation |
| spellingShingle | Jing Ruan Xuan Wang Xianyong Jiang Miao Chen Acquired pure red cell aplasia and T cell large granular lymphocytic leukaemia in patients with autoimmune polyglandular syndrome type 1 BMC Medical Genomics Pure red cell aplasia Large granular lymphocytic leukaemia Autoimmune polyendocrine syndrome type 1 AIRE gene mutation |
| title | Acquired pure red cell aplasia and T cell large granular lymphocytic leukaemia in patients with autoimmune polyglandular syndrome type 1 |
| title_full | Acquired pure red cell aplasia and T cell large granular lymphocytic leukaemia in patients with autoimmune polyglandular syndrome type 1 |
| title_fullStr | Acquired pure red cell aplasia and T cell large granular lymphocytic leukaemia in patients with autoimmune polyglandular syndrome type 1 |
| title_full_unstemmed | Acquired pure red cell aplasia and T cell large granular lymphocytic leukaemia in patients with autoimmune polyglandular syndrome type 1 |
| title_short | Acquired pure red cell aplasia and T cell large granular lymphocytic leukaemia in patients with autoimmune polyglandular syndrome type 1 |
| title_sort | acquired pure red cell aplasia and t cell large granular lymphocytic leukaemia in patients with autoimmune polyglandular syndrome type 1 |
| topic | Pure red cell aplasia Large granular lymphocytic leukaemia Autoimmune polyendocrine syndrome type 1 AIRE gene mutation |
| url | https://doi.org/10.1186/s12920-020-00866-y |
| work_keys_str_mv | AT jingruan acquiredpureredcellaplasiaandtcelllargegranularlymphocyticleukaemiainpatientswithautoimmunepolyglandularsyndrometype1 AT xuanwang acquiredpureredcellaplasiaandtcelllargegranularlymphocyticleukaemiainpatientswithautoimmunepolyglandularsyndrometype1 AT xianyongjiang acquiredpureredcellaplasiaandtcelllargegranularlymphocyticleukaemiainpatientswithautoimmunepolyglandularsyndrometype1 AT miaochen acquiredpureredcellaplasiaandtcelllargegranularlymphocyticleukaemiainpatientswithautoimmunepolyglandularsyndrometype1 |