Acquired pure red cell aplasia and T cell large granular lymphocytic leukaemia in patients with autoimmune polyglandular syndrome type 1
| العنوان: | Acquired pure red cell aplasia and T cell large granular lymphocytic leukaemia in patients with autoimmune polyglandular syndrome type 1 |
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| المؤلفون: | Miao Chen, Jing Ruan, Xianyong Jiang, Xuan Wang |
| المصدر: | BMC Medical Genomics BMC Medical Genomics, Vol 14, Iss 1, Pp 1-5 (2021) |
| بيانات النشر: | BioMed Central, 2021. |
| سنة النشر: | 2021 |
| مصطلحات موضوعية: | Adult, Male, 0301 basic medicine, lcsh:Internal medicine, lcsh:QH426-470, Acquired Pure Red Cell Aplasia, Pure red cell aplasia, Case Report, Red-Cell Aplasia, Pure, urologic and male genital diseases, 03 medical and health sciences, 0302 clinical medicine, Genetics, medicine, Humans, Large granular lymphocytic leukaemia, lcsh:RC31-1245, Genetics (clinical), Bronchiectasis, business.industry, AIRE gene mutation, medicine.disease, Premature ovarian failure, Leukemia, Large Granular Lymphocytic, lcsh:Genetics, 030104 developmental biology, Autoimmune polyendocrine syndrome type 1, Hypoparathyroidism, 030220 oncology & carcinogenesis, Mutation, Immunology, Female, business, Glucocorticoid, medicine.drug |
| الوصف: | 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. |
| اللغة: | English |
| تدمد: | 1755-8794 |
| الوصول الحر: | https://explore.openaire.eu/search/publication?articleId=doi_dedup___::56fc4aab097a98459b690e42ed378cb5Test http://europepmc.org/articles/PMC7814426Test |
| حقوق: | OPEN |
| رقم الانضمام: | edsair.doi.dedup.....56fc4aab097a98459b690e42ed378cb5 |
| قاعدة البيانات: | OpenAIRE |
| تدمد: | 17558794 |
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