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20231225202557.0 |
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231225s2021 xx |||||o 00| ||eng c |
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|a 10.1016/j.clim.2021.108801
|2 doi
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|a pubmed24n1094.xml
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|a (DE-627)NLM328258792
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|a (NLM)34280577
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|a (PII)S1521-6616(21)00138-8
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|a DE-627
|b ger
|c DE-627
|e rakwb
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|a eng
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| 100 |
1 |
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|a Tsilifis, Christo
|e verfasserin
|4 aut
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| 245 |
1 |
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|a Stem cell transplantation as treatment for major histocompatibility class I deficiency
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|c 2021
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| 336 |
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|a Text
|b txt
|2 rdacontent
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|a ƒaComputermedien
|b c
|2 rdamedia
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| 338 |
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|a ƒa Online-Ressource
|b cr
|2 rdacarrier
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| 500 |
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|a Date Completed 16.09.2021
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|a Date Revised 16.09.2021
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|a published: Print-Electronic
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|a Citation Status MEDLINE
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|a Copyright © 2021 Elsevier Inc. All rights reserved.
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|a Major histocompatibility class I deficiency, due to genetic lesions in TAP1, TAP2, TAPBP, or B2M, manifests with recurrent sinopulmonary infections and granulomatous skin ulceration, and is predominately treated with antimicrobial prophylaxis and chest physiotherapy. One previous report of hematopoietic stem cell transplantation has been described in the literature, demonstrating cure of the immune defect without significant graft-versus-host disease. In this report, we expand the literature on HSCT in MHC-I deficiency with follow-up of the original patient, demonstrating maintained resolution of normal immune function and regression of the granulomatous rash 15 years post-transplant, and describe a further patient with mycobacterial disease whose transplant course was complicated by severe graft-versus-host disease
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|a Case Reports
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|a Journal Article
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|a Research Support, Non-U.S. Gov't
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| 650 |
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|a Bare lymphocyte syndrome
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| 650 |
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4 |
|a HSCT
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| 650 |
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4 |
|a TAP1
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| 650 |
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4 |
|a TAP2
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| 650 |
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4 |
|a TAPBP
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| 650 |
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|a ATP Binding Cassette Transporter, Subfamily B, Member 2
|2 NLM
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| 650 |
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|a ATP Binding Cassette Transporter, Subfamily B, Member 3
|2 NLM
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| 650 |
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|a Histocompatibility Antigens Class I
|2 NLM
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| 650 |
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|a TAP1 protein, human
|2 NLM
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| 650 |
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|a TAP2 protein, human
|2 NLM
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| 650 |
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|a 145892-13-3
|2 NLM
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| 650 |
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|a LMP7 protein
|2 NLM
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| 650 |
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|a EC 3.4.25.1
|2 NLM
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| 650 |
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|a Proteasome Endopeptidase Complex
|2 NLM
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| 650 |
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|a EC 3.4.25.1
|2 NLM
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| 700 |
1 |
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|a Moreira, Diana
|e verfasserin
|4 aut
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| 700 |
1 |
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|a Marques, Laura
|e verfasserin
|4 aut
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| 700 |
1 |
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|a Neves, Esmeralda
|e verfasserin
|4 aut
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| 700 |
1 |
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|a Slatter, Mary A
|e verfasserin
|4 aut
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| 700 |
1 |
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|a Gennery, Andrew R
|e verfasserin
|4 aut
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| 773 |
0 |
8 |
|i Enthalten in
|t Clinical immunology (Orlando, Fla.)
|d 1999
|g 229(2021) vom: 15. Aug., Seite 108801
|w (DE-627)NLM098196855
|x 1521-7035
|7 nnns
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| 773 |
1 |
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|g volume:229
|g year:2021
|g day:15
|g month:08
|g pages:108801
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| 856 |
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|u http://dx.doi.org/10.1016/j.clim.2021.108801
|3 Volltext
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