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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Autosomal dominant ectodermal dysplasia with immune deficiency


Antigen presenting cells


Computed tomography


Epidermodysplasia verruciformis


Human papillomavirus


Hematopoietic stem cell transplantation


Intravenous immunoglobulin replacement therapy


Lymphoid tissue organizer


Nuclear factor κB essential modulator


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


T cell receptor


Severe combined immunodeficiency


X-linked recessive ectodermal dysplasia with immunodeficiency


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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.


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