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Hematopoietic Stem Cell Transplantation in Late-onset X-linked Chronic Granulomatous Disease in a Female Carrier

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Fig. 1

Data Availability

Not applicable.

Code Availability

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Change history

Abbreviations

AUC:

Area Under the Curve

CGD:

Chronic Granulomatous Disease

DHR:

Dihydrorhodamine assay

GVHD:

Graft Versus Host Disease

HSCT:

Hematopoietic Stem Cell Transplantation

IFNγ:

Interferon-gamma

NADPH:

Nicotinamide Adenine Dinucleotide Phosphate

NIH:

National Institutes of Health

PBSC:

Peripheral Blood Stem Cells

PMA:

Phorbol 12-Myristate 13-Acetate

References

  1. Marciano BE, Zerbe CS, Falcone EL, et al. X-linked carriers of chronic granulomatous disease: illness, lyonization, and stability. J Allergy Clin Immunol. 2018;141(1):365–71.

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  2. Ezekowitz RAB, Orkin SH, Newburger PE. Recombinant interferon gamma augments phagocyte superoxide production and X-chronic granulomatous disease gene expression in X-linked variant chronic granulomatous disease. J Clin Invest. 1987;80(4):1009–16.

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  4. Parta M, Kelly C, Kwatemaa N, et al. Allogeneic reduced intensity hematopoietic stem cell transplantation for chronic granulomatous disease: a single-center prospective Trial. J Clin Immun. 2017;37:548–58.

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  5. Parta M, Hilligoss D, Kelly C, et al. Failure to prevent severe graft-versus-host disease in haploidentical hematopoietic cell transplantation with post-transplant cyclophosphamide in chronic granulomatous disease. J Clin Immunol. 2020;40(4):619–24.

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CGD consortium members

Francesco Salton6, Barbara Ruaro6, Chiara Torregiani6, Paola Confalonieri6, Samuele Naviglio5, Erica Valencic5, Marco Gabrielli2, Mark Parta3, Corin Kelly4, Luigi D. Notarangelo4, Harry L. Malech4

Funding

This project has been funded in whole or in part with federal funds from the National Cancer Institute, National Institutes of Health, under Contract No. HHSN261200800001E and Contract No. 75N910D00024, Task Order No. 75N91019F00131. The content of this publication does not necessarily reflect the views or policies of the Department of Health and Human Services, nor does mention of trade names, commercial products, or organizations imply endorsement by the U.S. Government.

Author information

Author notes

  1. Trevisan M. and Kang E.M. contributed equally as co-first authors.

  2. Tommasini A. and Confalonieri M. contributed equally as co-last authors.

Authors and Affiliations

  1. Department of Medicine, Surgery, and Health Sciences, University of Trieste, Trieste, Italy

    Matteo Trevisan, Alberto Tommasini & Marco Confalonieri

  2. Laboratory of Clinical Immunology and Microbiology, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, MD, USA

    Marco Gabrielli

  3. Pulmonology Department, University Hospital of Trieste, Trieste, Italy

    Mark Parta

  4. Institute for Maternal and Child Health IRCCS “Burlo Garofolo”, Trieste, Italy

    Elizabeth M. Kang, Corin Kelly, Luigi D. Notarangelo & Harry L. Malech

  5. Cardiovascular Department, Cardiac Surgery Unit, Ospedali Riuniti di Trieste, Trieste, Italy

    Samuele Naviglio, Erica Valencic & Alberto Tommasini

  6. Clinical Research Directorate, Frederick National Laboratory for Cancer Research, Bethesda, MD, USA

    Francesco Salton, Barbara Ruaro, Chiara Torregiani, Paola Confalonieri & Marco Confalonieri

Authors
  1. Matteo Trevisan
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  2. Elizabeth M. Kang
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  3. Alberto Tommasini
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  4. Marco Confalonieri
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Consortia

CGD Consortium

  • Francesco Salton
  • , Barbara Ruaro
  • , Chiara Torregiani
  • , Paola Confalonieri
  • , Samuele Naviglio
  • , Erica Valencic
  • , Marco Gabrielli
  • , Mark Parta
  • , Corin Kelly
  • , Luigi D. Notarangelo
  •  & Harry L. Malech

Contributions

All authors contributed to the study conception and design. The first draft of the manuscript was written by MT and EMK. FS, BR, CT, MG, PC, CK, MP, EMK, AT, HLM, and MC cared for the patient. Material preparation, clinical data collection, and analysis were performed by EV, SN, MP, and AT. LDN, AT, HLM and MC reviewed and improved the final draft. All authors read and approved the final manuscript.

Corresponding author

Correspondence to Matteo Trevisan.

Ethics declarations

Consent to Participate

The patient gave informed consent to participate in this research.

Consent for Publication

The patient’s consent to publish was obtained. A signed informed consent was obtained from the patient to publish her data in this journal article. This form is available for review upon request.

Conflict of Interest

The authors declare no competing interests.

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Trevisan, M., Kang, E.M., CGD Consortium. et al. Hematopoietic Stem Cell Transplantation in Late-onset X-linked Chronic Granulomatous Disease in a Female Carrier. J Clin Immunol 42, 1396–1399 (2022). https://doi.org/10.1007/s10875-022-01310-9

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  • DOI: https://doi.org/10.1007/s10875-022-01310-9

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