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

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References

  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.

    Article  PubMed  CAS  PubMed Central  Google Scholar 

  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  CAS  Google Scholar 

  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.

    Article  PubMed  Google Scholar 

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Authors and Affiliations

  1. Laboratory of Immunoregulation, National Institute for Allergy and Infectious Diseases, Washington, DC, USA

    Katherine Clarridge

  2. Division of Allergy & Immunology, Children’s National Health System, 111 Michigan Ave NW, M7745A, Washington, DC, 20010, USA

    Katherine Clarridge, Brett Loechelt & Michael Keller

  3. Department of Laboratory Medicine, Children’s National Health System, Washington, DC, USA

    David Leitenberg

  4. Department of Microbiology, Immunology, and Tropical Medicine, George Washington University, Washington, DC, USA

    David Leitenberg

  5. Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM UMR1163, Imagine Institut, Necker Medical School, University Paris Descartes, Paris, France

    Capuchine Picard

Authors
  1. Katherine Clarridge
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  2. David Leitenberg
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  3. Brett Loechelt
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  4. Capuchine Picard
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  5. Michael Keller
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Corresponding author

Correspondence to Michael Keller.

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Conflict of Interest

The authors have no relevant conflicts of interest.

Funding

This research was funded by a Translational Research Grant from the Jeffrey Modell Foundation.

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Clarridge, K., Leitenberg, D., Loechelt, B. et al. Major Histocompatibility Complex Class II Deficiency due to a Novel Mutation in RFXANK in a Child of Mexican Descent. J Clin Immunol 36, 4–5 (2016). https://doi.org/10.1007/s10875-015-0219-4

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  • DOI: https://doi.org/10.1007/s10875-015-0219-4

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