Bezzerri, Valentino
Pegoraro, Anna
Hristodor, Anca Manuela https://orcid.org/0009-0000-9275-8019
Crane, Genevieve M. https://orcid.org/0000-0001-9274-0214
Meneghelli, Ilaria
Brignole, Cecilia
Boni, Christian https://orcid.org/0000-0002-9982-4100
Baldisseri, Elena
Vella, Antonio https://orcid.org/0000-0001-9598-2673
Menichetti, Giacomo
Valli, Roberto
Porta, Giovanni
D’Amico, Giovanna
Tecchio, Cristina
Parisi, Alice
Lippi, Giuseppe https://orcid.org/0000-0001-9523-9054
Mercuri, Angela
Cesaro, Simone https://orcid.org/0000-0002-8698-9547
Corey, Seth J.
Cipolli, Marco https://orcid.org/0000-0001-5652-7248
Funding for this research was provided by:
Italian Association for Shwachman-Diamond Syndrome
U.S. Department of Health & Human Services | National Institutes of Health (R01DK132812)
Velosano 2nd Chance 4 Kids Lisa Dean Moseley Foundation
Article History
Received: 20 January 2025
Accepted: 4 August 2025
First Online: 2 September 2025
Competing interests
: V.B. and M.C. are co-inventors of the patent US 11,207,300 B2 “Method of treatment of Shwachman–Diamond syndrome”. All authors declare that they have no additional competing interests.
: The research included local and foreign researchers throughout the research process. All clinical data were analyzed by co-authors after de-anonymization of samples, according to pre-defined sharing measures between the involved research groups. Roles and responsibilities were agreed amongst collaborators ahead of the research. This study was approved by the Ethics Committee of the Azienda Ospedaliera Universitaria Integrata, Verona, Italy (approvals No. 4090 and 4182 CESC). Research did not result in stigmatization, incrimination, discrimination or otherwise personal risk to participants. Local and regional research relevant to this study was taken into account in citations. Participants received no compensation for their involvement in this study.