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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Correspondence to Caterina Cancrini.

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Conti, F., Carsetti, R., Casanova, J. 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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Keywords

  • Follow-up
  • HSCT
  • IkBα
  • ED-ID
  • epidermodysplasia verruciformis