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A 23-Year Follow-Up of a Patient with Gain-of-Function IkB-Alpha Mutation and Stable Full Chimerism After Hematopoietic Stem Cell Transplantation

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Abbreviations

AD ED-ID:

Autosomal dominant ectodermal dysplasia with immune deficiency

APC:

Antigen presenting cells

CT:

Computed tomography

EV:

Epidermodysplasia verruciformis

HPV:

Human papillomavirus

HSCT:

Hematopoietic stem cell transplantation

IVIG:

Intravenous immunoglobulin replacement therapy

LTo:

Lymphoid tissue organizer

NEMO:

Nuclear factor κB essential modulator

NF-kB:

Nuclear factor kappa-light-chain-enhancer of activated B cells

TCR:

T cell receptor

SCID:

Severe combined immunodeficiency

XR-EDA-ID:

X-linked recessive ectodermal dysplasia with immunodeficiency

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Acknowledgments

The authors are grateful to Dr. Di Cesare, University of Rome Tor Vergata, Dr Alessia Scarselli and Dr. Cascioli, Childrens’ Hospital Bambino Gesù, Rome, for their help in providing data. We would like to thank the patient and his family, the nurses,for their participation in this study.

Funding

The study was supported by grants of the Italian Ministero della Salute (NET-2011-02350069) and the Ricerca Corrente from Childrens’ Hospital Bambino Gesù, Rome, Italy (201702P003966) to FC CC.

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Authors and Affiliations

  1. University Department of Pediatrics, Unit of Immune and Infectious Diseases, Childrens’ Hospital Bambino Gesù, Piazza S. Onofrio 4, Rome, Italy

    Francesca Conti & Caterina Cancrini

  2. Unit of Diagnostic Immunology, Department of Laboratories, Bambino Gesù Children’s Hospital, IRCCS, Rome, Italy

    Rita Carsetti

  3. St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY, 10065, USA

    Jean-Laurent Casanova

  4. Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM U1163, 75015, Paris, France

    Jean-Laurent Casanova

  5. Imagine Institute, Paris Descartes University, 75015, Paris, France

    Jean-Laurent Casanova & Alain Fischer

  6. Pediatric Immunology, Hematology, and Rheumatology Unit, Hopital Necker Enfants-Malades, Assistance Publique-Hôpitaux de Paris, 75015, Paris, France

    Jean-Laurent Casanova & Alain Fischer

  7. Howard Hughes Medical Institute, New York, NY, 10065, USA

    Jean-Laurent Casanova

  8. Collège de France, Paris, France

    Alain Fischer

  9. INSERM U1163, 75015, Paris, France

    Alain Fischer

  10. Department of Systems Medicine, University of Rome Tor Vergata, Rome, Italy

    Caterina Cancrini

Authors
  1. Francesca Conti
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  2. Rita Carsetti
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  3. Jean-Laurent Casanova
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  4. Alain Fischer
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  5. Caterina Cancrini
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Corresponding author

Correspondence to Caterina Cancrini.

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Conti, F., Carsetti, R., Casanova, JL. et al. A 23-Year Follow-Up of a Patient with Gain-of-Function IkB-Alpha Mutation and Stable Full Chimerism After Hematopoietic Stem Cell Transplantation. J Clin Immunol 40, 927–933 (2020). https://doi.org/10.1007/s10875-020-00780-z

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  • DOI: https://doi.org/10.1007/s10875-020-00780-z

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