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NLM120338858 |
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DE-627 |
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20231227123118.0 |
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231222s2002 xx ||||| 00| ||eng c |
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|b ger
|c DE-627
|e rakwb
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|a eng
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| 100 |
1 |
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|a Kogawa, Kazuhiko
|e verfasserin
|4 aut
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| 245 |
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|a Distinct clinical phenotype and immunoreactivity in Japanese siblings with autoimmune polyglandular syndrome type 1 (APS-1) associated with compound heterozygous novel AIRE gene mutations
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|c 2002
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| 336 |
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|a Text
|b txt
|2 rdacontent
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| 337 |
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|a ohne Hilfsmittel zu benutzen
|b n
|2 rdamedia
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| 338 |
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|a Band
|b nc
|2 rdacarrier
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|a Date Completed 28.08.2002
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|a Date Revised 13.12.2023
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|a published: Print
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|a Citation Status MEDLINE
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| 520 |
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|a We herein report on two Japanese siblings with autoimmune polyglandular syndrome type 1 (APS-1). The brother, who expressed a characteristic phenotype of APS-1, had developed severe mucocutaneous candidiasis in early infancy and thereafter developed hypoparathyroidism and Addison's disease, along with a severe deterioration of his immunologic function. In contrast, the 44-year-old sister, who showed a noncharacteristic phenotype of APS-1, developed insulin-dependent diabetes with high anti-glutamic acid decarboxylase antibody, mild nail candidiasis, and autoimmune hepatitis with intact immunoreactivity. She had three susceptible human leukocyte antigen (HLA) loci for type 1 autoimmune diabetes. The expression of T cell receptor (TCR)V beta 5.1 increased in both patients, while the brother showed a widely suppressed expression of many TCRV beta families. Both individuals possessed compound heterozygous novel autoimmune regulator (AIRE) gene mutations (L29P and IVS9-1G > C). The same AIRE gene mutations can thus be associated with characteristic and noncharacteristic phenotypes of APS-1, and HLA may possibly influence the phenotype of APS-1
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|a Case Reports
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|a Journal Article
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| 650 |
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|a Research Support, Non-U.S. Gov't
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| 650 |
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|a Transcription Factors
|2 NLM
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| 700 |
1 |
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|a Kudoh, Jun
|e verfasserin
|4 aut
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| 700 |
1 |
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|a Nagafuchi, Seiho
|e verfasserin
|4 aut
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| 700 |
1 |
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|a Ohga, Shouichi
|e verfasserin
|4 aut
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| 700 |
1 |
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|a Katsuta, Hitoshi
|e verfasserin
|4 aut
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| 700 |
1 |
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|a Ishibashi, Hiromi
|e verfasserin
|4 aut
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| 700 |
1 |
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|a Harada, Mine
|e verfasserin
|4 aut
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| 700 |
1 |
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|a Hara, Toshiro
|e verfasserin
|4 aut
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| 700 |
1 |
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|a Shimizu, Nobuyoshi
|e verfasserin
|4 aut
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| 773 |
0 |
8 |
|i Enthalten in
|t Clinical immunology (Orlando, Fla.)
|d 1999
|g 103(2002), 3 Pt 1 vom: 15. Juni, Seite 277-83
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|x 1521-7035
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