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

Jing Ruan; Xuan Wang; Xianyong Jiang; Miao Chen

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

机译：自身免疫性多沟综合征1型患者获得纯红细胞Allasia和T细胞大颗粒淋巴细胞白血病1

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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. 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 AIRE is causally related to the development of LGLL and consequent PRCA, which may be due to some immunological mechanisms.

机译：纯红细胞Allasia（PRCA）和大颗粒淋巴细胞白血病（LGLL）是自身免疫聚度综合征1型（APS1）的非常罕见的并发症。在这里，我们报告了PRCA和LGLL的APS1的情况。审查了以前的案例，并讨论了可能的机制。一位31岁女性患有贫血，并被诊断出在我们的中心患有PRCA。她还有24年的过胆胆无碱，过早卵巢衰竭10？年，骨质疏松症5？多年，复发性肺炎与支气管扩张4？岁月和慢性腹泻1？一年。增强的全极其分析显示AIVE杂合突变，证实诊断为APS1。在随访期间被诊断出来的LGLL。 PRCA对糖皮质激素的反应很好。治疗AIVE与LGLL的发育有关的因果关系，并因此可能是由于一些免疫机制。

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《BMC Medical Genomics》 |2021年第1期|共5页
作者
Jing Ruan; Xuan Wang; Xianyong Jiang; Miao Chen;
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中图分类遗传学;
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Pure red cell aplasiaLarge granular lymphocytic leukaemiaAutoimmune polyendocrine syndrome type 1AIRE gene mutation;

机译：纯红细胞Aplasialarge颗粒状淋巴细胞白细胞免疫瘤术聚泌酐综合征1AIRE基因突变;

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1. Pure Red Cell Aplasia (PRCA) and Cerebellar Hypoplasia as Atypical Features of Polyglandular Autoimmune Syndrome Type I (APS-1): Two Sisters With the Same AIRE Mutation but Different Phenotypes [J] . Matteo Chinello, Elena Fiorini, Simone Cesaro, Frontiers in Pediatrics . 2019,第a期

机译：纯红细胞Aplasia（PRCA）和小脑发育性作为多沟类自身免疫综合征I型（APS-1）的非典型特征：两个姐妹，具有相同的AIVE突变，但不同的表型
2. Pure Red Cell Aplasia (PRCA) and Cerebellar Hypoplasia as Atypical Features of Polyglandular Autoimmune Syndrome Type I (APS-1): Two Sisters With the Same AIRE Mutation but Different Phenotypes [J] . Chinello Matteo, Mauro Margherita, Cantalupo Gaetano, Frontiers in Pediatrics . 2019,第3期

机译：纯红细胞Aplasia（PRCA）和小脑发育性作为多焦自身免疫综合征I型（APS-1）的非典型特征：两个姐妹，具有相同的AIVE突变但不同的表型
3. Pure red cell aplasia associated with type I autoimmune polyglandular syndrome-successful response to treatment with mycophenolate mofetil: case report and review of literature [J] . Milena Bakrac, Vladimir Jurisic, Tania Kostic, Journal of Clinical Pathology . 2007,第6期

机译：与I型自身免疫性多腺综合征相关的纯红细胞发育不良-霉酚酸酯治疗成功成功的病例报告和文献复习
4. Efficiency and Toxmcity of the Fludarabine and Cyclo- Phosphamide Combined Therapy in Relapsed/ Resistant Patients with B-cell Chronic Lymphocytic Leukaemia (CLL)-Polish Multicenter Study [C] . M. Kowal, A. Dmoszynska, D. Jawniak, European Haematology Association . 2002

机译：B-Cell慢性淋巴细胞白血病（CLL） - 渗透多中心研究的复发/抗性患者复发/抗性患者的氟氮胺碱和环磷酰胺联合治疗的效率和毒性
5. The Role of Acinar Cells Function in Oral and Gut Microbiota in Autoimmune Pancreatitis and Sj?gren's Syndrome [D] . Kabrah, Ahmed. 2020

机译：丙氨酸细胞功能在口腔和肠道微生物中的作用在自身免疫性胰腺炎中和SJ？GREN的综合征
6. Acquired pure red cell aplasia and T cell large granular lymphocytic leukaemia in patients with autoimmune polyglandular syndrome type 1 [O] . Jing Ruan, Xuan Wang, Xianyong Jiang, 2021

机译：自身免疫多沟综合征1型患者获得纯红细胞Allasia和T细胞大颗粒淋巴细胞白血病1
7. T-γ large granular lymphocyte leukemia associated with amegakaryocytic thrombocytopenic purpura, Sjögren's syndrome, and polyglandular autoimmune syndrome type II, with subsequent development of pure red cell aplasia [O] . David Ergas, Alexander Tsimanis, Mordechai Shtalrid, 2002

机译：T-γ大粒状淋巴细胞白血病，与亚基约核细胞血小板发作紫癜，Sjögren综合征和多沟和多沟自身免疫综合征II型，随后发育纯红细胞Aplasia

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

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