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Journal of Clinical Immunology
Published in: Journal of Clinical Immunology 1/2016

01-01-2016 | Letter to Editor

Major Histocompatibility Complex Class II Deficiency due to a Novel Mutation in RFXANK in a Child of Mexican Descent

Authors: Katherine Clarridge, David Leitenberg, Brett Loechelt, Capuchine Picard, Michael Keller

Published in: Journal of Clinical Immunology | Issue 1/2016

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Excerpt

To the Editor: …
Appendix
Available only for authorised users
Literature
1.
Masternak K. Barras El, zufferey M, conrad B, corthals G, aebersold R, et al. A gene encoding a novel RFX-associated transactivator is mutated in the majority of MHC class II deficiency patients. Nat Genet. 1998;20.
2.
Krawczyk M, Masternak K, Zufferey M, Barras E, Reith W. New functions of the major histocompatibility complex class II-specific transcription factor RFXANK revealed by a high-resolution mutagenesis study. Mol Cell Biol. 2005;25:8607–18.PubMedPubMedCentralCrossRef
3.
Wiszniewski W, Fondaneche MC, Louise-Plence P, Prochnicka-Chalufour A, Selz F, Picard C, et al. Novel mutations in the RFXANK gene: RFX complex containing in-vitro-generated RFXANK mutant binds the promoter without transactivating MHC II. Immunogenetics. 2003;54:747–55.PubMed
4.
Renella R, Picard C, Neven B, Ouachee-Chardin M, Casanova JL, Le Deist F, et al. Human leucocyte antigen-identical haematopoietic stem cell transplantation in major histocompatiblity complex class II immunodeficiency: reduced survival correlates with an increased incidence of acute graft-versus-host disease and pre-existing viral infections. Br J Haematol. 2006;134:510–6.PubMedCrossRef
Metadata
Title
Major Histocompatibility Complex Class II Deficiency due to a Novel Mutation in RFXANK in a Child of Mexican Descent
Authors
Katherine Clarridge
David Leitenberg
Brett Loechelt
Capuchine Picard
Michael Keller
Publication date
01-01-2016
Publisher
Springer US
Published in
Journal of Clinical Immunology / Issue 1/2016
Print ISSN: 0271-9142
Electronic ISSN: 1573-2592
DOI
https://doi.org/10.1007/s10875-015-0219-4

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