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Stuart E. Turvey, sturvey@cw.bc.ca
Mehul Sharma, msharma@bcchr.ca
Conceptualization, methodology, formal analysis, investigation, visualization, writing—original draft preparation, writing—review and editing: M. Sharma, D. Leung, M. Momenilandi, L.C.W. Jones, L. Pacillo, A.E. James, J.R. Murrell, S. Delafontaine, J. Maimaris, M. Vaseghi-Shanjani, K.L. Del Bel, and H.Y. Lu. Investigation, resources, writing—review and editing: G.T. Chua, S. Di Cesare, O. Fornes, Z. Liu, G. Di Matteo, M.P. Fu, D. Amodio, I.Y.S. Tam, G.S.W. Chan, A.A. Sharma, J. Dalmann, R. van der Lee, G. Blanchard-Rohner, S. Lin, Q. Philippot, P.A. Richmond, J.J. Lee, A. Matthews, M. Seear, A.K. Turvey, R.L. Philips, T.F. Brown-Whitehorn, C.J. Gray, K. Izumi, J.R. Treat, K.H. Wood, J. Lack, A. Khleborodova, J.E. Niemela, X. Yang, R. Liang, L. Kui, C.S.M. Wong, G.W.K. Poon, A. Hoischen, C.I. van der Made, J. Yang, K.W. Chan, J.S.D. Rosa Duque, P.P.W. Lee, M.H.K. Ho, B.H.Y. Chung, H.T.M. Le, W. Yang, P. Rohani, A. Fouladvand, H. Rokni-Zadeh, M. Changi-Ashtiani, M. Miryounesi, A. Puel, M. Shahrooei, A. Finocchi, P. Rossi, B. Rivalta, C. Cifaldi, A. Novelli, C. Passarelli, S. Arasi, D. Bullens, K. Sauer, T. Claeys, C.M. Biggs, E.C. Morris, S.D. Rosenzweig, J.J. O’Shea, W.W. Wasserman, H.M. Bedford, C.D.M. van Karnebeek, and P. Palma. Conceptualization, methodology, investigation, validation, visualization, resources, funding acquisition, project administration, supervision, writing—original draft preparation, writing—review and editing: S.O. Burns, I. Meyts, J.-L. Casanova, J.J. Lyons, N. Parvaneh, A.T.V. Nguyen, C. Cancrini, J. Heimall, H. Ahmed, M.L. McKinnon, Y.L. Lau, V. Beziat, and S.E. Turvey.
We thank the National Institute for Health and Care Research (NIHR) BioResource volunteers for their participation, and gratefully acknowledge NIHR BioResource centers, National Health Service Trusts, and staff for their contribution. A list of NIHR BioResource Rare Diseases Consortium members is available at the end of the PDF. We would also like to acknowledge the Biomedical Research Centre Sequencing Core for their assistance with RNAseq and processing. We acknowledge the extended clinical care team at the National Institute of Allergy and Infectious Diseases who helped in the care and evaluation of Patient 11. We also thank the extended clinical team at the Department of Paediatrics and Adolescent Medicine, Queen Mary Hospital, Hong Kong, China for providing expert care and support. We thank the Genomics Core of the Centre for PanorOmic Sciences of the University of Hong Kong for their professional performance of bulk and scRNAseq. Finally, we thank the patients and their families for their trust and support.
This work was supported by grants from the Canadian Institutes of Health Research (PJT 178054; S.E. Turvey), Genome British Columbia (SIP007; S.E. Turvey), and BC Children’s Hospital Foundation. S.E. Turvey holds a Tier 1 Canada Research Chair in Pediatric Precision Health and the Aubrey J. Tingle Professor of Pediatric Immunology. M. Sharma was supported by a CIHR Frederick Banting and Charles Best Canada Graduate Scholarships Doctoral Award and University of British Columbia Four Year Doctoral Fellowship (4YF). H.Y. Lu is supported by a Canada Graduate Scholarship, 4YF, Killam Doctoral Scholarship, Friedman Award for Scholars in Health, and a BC Children’s Hospital Research Institute Graduate Studentship. M. Vaseghi-Shanjani is funded by the Vanier Canada Graduate Scholarship and 4YF.
The work by J. Heimall was supported by the Elizabeth Paige Lavin Endowed Chair fund. This project has also been funded in part with federal funds from the Division of Intramural Research of the National Institute of Allergy and Infectious Diseases, National Institutes of Health. 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 US Government
The Laboratory of Human Genetics of Infectious Diseases is supported by the Howard Hughes Medical Institute, the Rockefeller University, the St. Giles Foundation, the French National Research Agency (ANR) under the “Investments for the Future” program (ANR-10-IAHU-01), ANR CARMIL2 (ANR-21-CE15-0034), Instituts Thématiques Multiorganismes (ITMO) Cancer of Aviesan, and Institut National du Cancer (INCa) within the framework of the 2021–2030 Cancer Control Strategy (on funds administered by the Institut National de la Santé et de la Recherche Médicale), the Integrative Biology of Emerging Infectious Diseases Laboratory of Excellence (ANR-10-LABX-62-IBEID), the French Foundation for Medical Research (EQU201903007798), the Square Foundation, Institut National de la Santé et de la Recherche Médicale, and Paris University Cité.
This work was also supported by Children’s Hospital Bambino Gesù, where L. Pacillo and B. Rivalta were supported by 4-yr doctoral scholarships. C. Cifaldi and C. Cancrini were supported by the Italian Ministry of Health; C. Cifaldi was supported with a 5x1000 Children’s Hospital post-doctoral scholarship, and C. Cancrini holds a Development of Innovative Diagnostic and Therapeutic Approaches for PID grant (Programma di rete, NET-2011-02350069) and Ricerca Corrente.
Additionally, the optimization of the Olink platform was supported by the PENTA Foundation, funded through an independent grant by ViiV Healthcare UK, named EPIICAL. Y.L. Lau is supported by the Society for the Relief of Disabled Children, Jeffrey Modell Foundation, Doris Zimmern Endowed Professorship in Community Child Health, and Chung Ko Lee and Cheung Yuen Kan Education and Research Fund. D. Leung is supported by the Croucher Foundation.
J.S.D. Rosa Duque is supported by a donation in memory of Dr. Ton Lung Quong and Reverend Marion Quong. Z. Liu, R. Liang, and X. Yang are supported by the Edward and Yolanda Wong Fund. The funders had no role in study design, data collection and analysis, decision to publish, or preparation of the manuscript.
© 2023 Sharma et al.