Pernicious Anemia in an Adult with Trisomy 21
Pernicious anemia is an autoimmune disease caused by the malabsorption of vitamin B12. It usually appears in the elderly. People with trisomy 21 are susceptible to autoimmune diseases. This susceptibility is thought to be due to altered expression of the AIRE gene, which is located in the 21q22.3 re...
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| Main Authors: | , , , , |
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| Format: | Article |
| Language: | English |
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Wiley
2023-01-01
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| Series: | Case Reports in Immunology |
| Online Access: | http://dx.doi.org/10.1155/2023/2747756 |
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| _version_ | 1849471565577584640 |
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| author | Kentaro Kamada Osamu Kawano Satoshi Yakuwa Kentaro Wakasa Kimiaki Uetake |
| author_facet | Kentaro Kamada Osamu Kawano Satoshi Yakuwa Kentaro Wakasa Kimiaki Uetake |
| author_sort | Kentaro Kamada |
| collection | DOAJ |
| description | Pernicious anemia is an autoimmune disease caused by the malabsorption of vitamin B12. It usually appears in the elderly. People with trisomy 21 are susceptible to autoimmune diseases. This susceptibility is thought to be due to altered expression of the AIRE gene, which is located in the 21q22.3 region. Although pernicious anemia is not common in people with trisomy 21, AIRE is pointed out as a susceptibility gene of pernicious anemia in a genome-wide association study. Here, we report a man with trisomy 21, who suffered from the pernicious anemia. When he was in his 30 s, he visited our hospital because of diarrhea and poor oral intake. He showed thrombocytopenic purpura-like features, and was diagnosed as pernicious anemia. After supplementation of vitamin B12, he recovered from the illness. The reason for his early onset may be because of trisomy 21. Altered expression of AIRE might trigger the disease. |
| format | Article |
| id | doaj-art-c5d23439f8c44c9bb0a83b5ebcd336e7 |
| institution | Kabale University |
| issn | 2090-6617 |
| language | English |
| publishDate | 2023-01-01 |
| publisher | Wiley |
| record_format | Article |
| series | Case Reports in Immunology |
| spelling | doaj-art-c5d23439f8c44c9bb0a83b5ebcd336e72025-08-20T03:24:47ZengWileyCase Reports in Immunology2090-66172023-01-01202310.1155/2023/2747756Pernicious Anemia in an Adult with Trisomy 21Kentaro Kamada0Osamu Kawano1Satoshi Yakuwa2Kentaro Wakasa3Kimiaki Uetake4Department of PediatricsDepartment of PediatricsDepartment of PediatricsDepartment of HematologyDepartment of PediatricsPernicious anemia is an autoimmune disease caused by the malabsorption of vitamin B12. It usually appears in the elderly. People with trisomy 21 are susceptible to autoimmune diseases. This susceptibility is thought to be due to altered expression of the AIRE gene, which is located in the 21q22.3 region. Although pernicious anemia is not common in people with trisomy 21, AIRE is pointed out as a susceptibility gene of pernicious anemia in a genome-wide association study. Here, we report a man with trisomy 21, who suffered from the pernicious anemia. When he was in his 30 s, he visited our hospital because of diarrhea and poor oral intake. He showed thrombocytopenic purpura-like features, and was diagnosed as pernicious anemia. After supplementation of vitamin B12, he recovered from the illness. The reason for his early onset may be because of trisomy 21. Altered expression of AIRE might trigger the disease.http://dx.doi.org/10.1155/2023/2747756 |
| spellingShingle | Kentaro Kamada Osamu Kawano Satoshi Yakuwa Kentaro Wakasa Kimiaki Uetake Pernicious Anemia in an Adult with Trisomy 21 Case Reports in Immunology |
| title | Pernicious Anemia in an Adult with Trisomy 21 |
| title_full | Pernicious Anemia in an Adult with Trisomy 21 |
| title_fullStr | Pernicious Anemia in an Adult with Trisomy 21 |
| title_full_unstemmed | Pernicious Anemia in an Adult with Trisomy 21 |
| title_short | Pernicious Anemia in an Adult with Trisomy 21 |
| title_sort | pernicious anemia in an adult with trisomy 21 |
| url | http://dx.doi.org/10.1155/2023/2747756 |
| work_keys_str_mv | AT kentarokamada perniciousanemiainanadultwithtrisomy21 AT osamukawano perniciousanemiainanadultwithtrisomy21 AT satoshiyakuwa perniciousanemiainanadultwithtrisomy21 AT kentarowakasa perniciousanemiainanadultwithtrisomy21 AT kimiakiuetake perniciousanemiainanadultwithtrisomy21 |