Type 1 hyper-IgM syndrome diagnosed in a 28-year-old patient with recurrent infections since childhood
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- KOIKE Michiaki
- Department of Hematology, Juntendo University School of Medicine, Shizuoka Hospital
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- OSHIMI Kazuo
- Department of Hematology, Juntendo University School of Medicine
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- AGEMATU Kazunaga
- Department of Pediatrics, Shinshu University School of Medicine
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- FUTANI Takeshi
- Department of Pediatrics, Toyama University of Medicine
Bibliographic Information
- Other Title
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- 小児期より感染を繰り返し28歳で初めて診断された1型高IgM症候群
- 症例報告 小児期より感染を繰り返し28歳で初めて診断された1型高IgM症候群
- ショウレイ ホウコク ショウニキ ヨリ カンセン オ クリカエシ 28サイ デ ハジメテ シンダン サレタ 1ガタ コウIgM ショウコウグン
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Abstract
We report a male patient who was diagnosed as having hyper-IgM syndrome at the age of 28 years old. The patient had a history of recurrent infectious diseases since childhood such as bronchitis and otitis media, with decreased and increased levels of serum IgG and IgM, respectively. Genomic analysis of the CD40 ligand gene revealed deletion of six nucleotides from 475 to 480 followed by a T to A change at 481. These findings were compatible with the diagnosis of type 1 hyper-IgM syndrome. Bearing in mind the fact that only 20% of such patients survive over the age of 25, this patient is considered to be a rare case who was not actually diagnosed as having this disease until 28 years old.
Journal
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- Rinsho Ketsueki
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Rinsho Ketsueki 47 (10), 1377-1380, 2006
The Japanese Society of Hematology
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Details
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- CRID
- 1390282680010133376
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- NII Article ID
- 10018306780
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- NII Book ID
- AN00252940
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- COI
- 1:STN:280:DC%2BD28nmtVWhuw%3D%3D
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- ISSN
- 18820824
- 04851439
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- NDL BIB ID
- 8516363
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- PubMed
- 17094577
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- Text Lang
- ja
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- Data Source
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- JaLC
- NDL
- PubMed
- CiNii Articles
- KAKEN
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- Abstract License Flag
- Disallowed