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EDA-ID: a Severe Clinical Presentation Associated with a New IKBKG Mutation

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Fig. 1

Abbreviations

CMV:

Cytomegalovirus

EDA-ID:

Ectodermal dysplasia with immunodeficiency

GVHD:

Graft-versus-host disease

HLA:

Human leukocyte antigen

HSCT:

Hematopoietic stem cell transplantation

NEMO:

NF-κB essential modulator

References

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Acknowledgements

The authors would like to thank Christophe Malcus (Immunology Lab) and Linda Pons (Department of Genetics) from Hospices Civils de Lyon (France, EU) for their help in the conception of this article. They also thank Patrick Combemale who diagnosed IP in the mother and reviewed the manuscript (Oncology and dermatology unit, Léon Bérard center, Lyon, France, EU). Finally, they thanked the parents for agreeing to this case report.

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Author notes

  1. Antony Ceraulo and Marie Ouachée-Chardin contributed equally to this work.

Authors and Affiliations

  1. Department of Hematology, Institute of Pediatric Hematology and Oncology (IHOPe), and University Claude Bernard, 1 place du Pr Joseph Renault - 69008, Lyon, France

    Coline Bret Puvilland, Yves Bertrand, Antony Ceraulo & Marie Ouachée-Chardin

  2. Imagine Institute, Paris University, Paris, France

    Bertrand Boisson, Mathieu Fusaro & Jacinta Bustamante

  3. Laboratory of Human Genetics of Infectious Diseases, Necker Branch, Inserm U1163, Necker Hospital for Sick Children, Paris, France

    Bertrand Boisson & Jacinta Bustamante

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

    Bertrand Boisson & Jacinta Bustamante

  5. Study Center for Immunodeficiencies, Necker Hospital for Sick Children, Assistance Publique – Hôpitaux de Paris, Paris, EU, France

    Mathieu Fusaro & Jacinta Bustamante

Authors
  1. Coline Bret Puvilland
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  2. Bertrand Boisson
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  3. Mathieu Fusaro
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  4. Jacinta Bustamante
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  5. Yves Bertrand
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  6. Antony Ceraulo
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  7. Marie Ouachée-Chardin
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Contributions

I (Coline Bret Puvilland) collected the data, studied the literature and wrote the manuscript. Mathieu Fusaro, Bertrand Boisson, and Jacinta Bustamante performed the NGS analyses, performed the experiments, and reviewed the manuscript. Marie Ouachée-Chardin and Yves Bertrand were the hematologists in charge of the patient, conducted the medical follow-up, and reviewed the manuscript. Antony Ceraulo was the hematologist in charge of the patient, helped collecting the data, helped writing the manuscript, and provided expertise and critical reading. All authors contributed to the study conception and design. All authors read and approved the final manuscript, and agreed to be accountable for all aspects of the work.

Corresponding author

Correspondence to Coline Bret Puvilland.

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Ethics approval

Our local ethics committee approved this study.

Consent to Participate

Verbal informed consent was obtained from parents.

Conflict of Interest

The authors declare no conflict of interest.

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Supplementary Information

ESM 1

Evolution of the CMV plasmatic viral load (Artus kit CMV QS-RGS, Qiagen®) and treatments (PDF 140 kb)

ESM 2

Immunological characteristics of the patient (PDF 217 kb)

ESM 3

Methods of functional characterization of the variant (PDF 224 kb)

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Bret Puvilland, C., Boisson, B., Fusaro, M. et al. EDA-ID: a Severe Clinical Presentation Associated with a New IKBKG Mutation. J Clin Immunol 41, 1099–1102 (2021). https://doi.org/10.1007/s10875-021-00992-x

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  • DOI: https://doi.org/10.1007/s10875-021-00992-x

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