Minskaia, Ekaterina
Maimaris, Jesmeen http://orcid.org/0000-0003-4169-8209
Jenkins, Persephone
Albuquerque, Adriana S.
Hong, Ying
Eleftheriou, Despina
Gilmour, Kimberly C.
Grace, Richard
Moreira, Fernando
Grimbacher, Bodo
Adhya, Zoe
Alachkar, Hana
Anantharachagan, Ariharan
Antrobus, Richard
Arumugakani, Gururaj
Bacchelli, Chiara
Baxendale, Helen
Bethune, Claire
Bibi, Shahnaz
Boardman, Barbara
Booth, Claire
Browning, Michael
Brownlie, Mary
Burns, Siobhan
Chandra, Anita
Clifford, Hayley
Cooper, Nichola
Davies, Sophie
Dempster, John
Devlin, Lisa
Doffinger, Rainer
Drewe, Elizabeth
Edgar, David
Egner, William
El-Shanawany, Tariq
Gaspar, Bobby
Ghurye, Rohit
Gilmour, Kimberley
Goddard, Sarah
Gordins, Pavel
Grigoriadou, Sofia
Hackett, Scott
Hague, Rosie
Harper, Lorraine
Hayman, Grant
Herwadkar, Archana
Hughes, Stephen
Huissoon, Aarnoud
Jolles, Stephen
Jones, Julie
Kelleher, Peter
Klein, Nigel
Kuijpers, Taco
Kumararatne, Dinakantha
Laffan, James
Allen, Hana Lango
Lear, Sara
Longhurst, Hilary
Lorenzo, Lorena
Maimaris, Jesmeen
Manson, Ania
McDermott, Elizabeth
Millar, Hazel
Mistry, Anoop
Morrisson, Valerie
Murng, Sai
Nasir, Iman
Nejentsev, Sergey
Noorani, Sadia
Oksenhendler, Eric
Ponsford, Mark
Qasim, Waseem
Quinn, Ellen
Quinti, Isabella
Richter, Alex
Samarghitean, Crina
Sargur, Ravishankar
Savic, Sinisa
Seneviratne, Suranjith
Sewall, Carrock
Shackley, Fiona
Simeoni, Ilenia
Smith, Kenneth G. C.
Staples, Emily
Stauss, Hans
Steele, Cathal
Thaventhiran, James
Thomas, Moira
Thrasher, Adrian
Welch, Steve
Willcocks, Lisa
Workman, Sarita
Worth, Austen
Yeatman, Nigel
Yong, Patrick
Ashford, Sofie
Bradley, John
Fletcher, Debra
Hammerton, Tracey
James, Roger
Kingston, Nathalie
Ouwehand, Willem
Penkett, Christopher
Raymond, F. Lucy
Stirrups, Kathleen
Veltman, Marijke
Young, Tim
Brown, Matthew
Clements-Brod, Naomi
Davis, John
Dewhurst, Eleanor
Erwood, Marie
Frary, Amy
Linger, Rachel
Martin, Jennifer
Papadia, Sofia
Rehnstrom, Karola
Astle, William
Attwood, Antony
Bleda, Marta
Carss, Keren
Daugherty, Louise
Deevi, Sri
Graf, Stefan
Greene, Daniel
Halmagyi, Csaba
Haimel, Matthias
Hu, Fengyuan
Matser, Vera
Meacham, Stuart
Megy, Karyn
Shamardina, Olga
Titterton, Catherine
Tuna, Salih
Turro, Ernest
Yu, Ping
von Ziegenweldt, Julie
Furnell, Abigail
Mapeta, Rutendo
Staines, Simon
Stephens, Jonathan
Whitehorn, Deborah
Rayner-Matthews, Paula
Watt, Christopher
Morris, Emma C.
Burns, Siobhan O.
,
Funding for this research was provided by:
University College London Hospitals Biomedical Research Centre
UCLH Biomedical Research Centre
Article History
Received: 5 October 2022
Accepted: 29 May 2023
First Online: 14 June 2023
Declarations
:
: The NIHR BioResource Rare Diseases project was approved by the national institutional review board (13/EE/0325). Informed consent for obtaining blood and skin biopsy samples for functional assays were taken in accordance with the Declaration of Helsinki and with approvals from local ethics committees with ethical approval (reference numbers 04/Q0501/119 and 06/Q0508/16).
: All participants provided written informed consent prior to participation.
: Not applicable.
: SOB has received grant support from CSL Behring and personal fees or travel expenses from Immunodeficiency Canada/IAACI, CSL Behring, Baxalta US Inc and Biotest. ECM has received honoraria from GlaxoSmithKline, AstraZeneca and Orchard Therapeutics. BG was an advisor to the following companies: UCB Pharma S.A., Epimune GmbH, Octapharma, Atheneum Partners GmbH, and GigaGen Inc. and a speaker for Janssen-Cilag GmbH. The rest of the authors declare that they have no conflicts of interest.