By Professor Stuart Graham Tangye

Conference Abstracts

Jing H; Abolhassani H; Edwards ESJ; Ikinciogullari KA; Borte S; Buggert M; Du L; Lennikov M; Romano R; Caridha R; Bade S; Zhang Y; Frederiksen J; Fang M; Bal SK; Haskologlu S; Dogu F; Tacyildiz N; Matthews HF; McElwee JJ; Gostick E; Price DA; Palendira U; Aghamohammadi A; Boisson B; Rezaei N; Karlsson A; Lenardo MJ; Casanova J-L; Hammarstrom L; Tangye SG; Pan-Hammarstrom Q; Su HC, 2017, 'COMBINED IMMUNODEFICIENCY AND EPSTEIN-BARR VIRUS-INDUCED B CELL MALIGNANCY IN HUMANS WITH INHERITED CD70 DEFICIENCY', in JOURNAL OF CLINICAL IMMUNOLOGY, SPRINGER/PLENUM PUBLISHERS, WA, Seattle, Vol. 37, pp. 230 - 230, presented at CIS Annual Meeting on Immune Deficiency and Dysregulation North American, WA, Seattle, 23 March 2017 - 26 March 2017, https://www.webofscience.com/api/gateway?GWVersion=2&SrcApp=PARTNER_APP&SrcAuth=LinksAMR&KeyUT=WOS:000396924700093&DestLinkType=FullRecord&DestApp=ALL_WOS&UsrCustomerID=891bb5ab6ba270e68a29b250adbe88d1

Nguyen A; Moran I; Tanaka M; Tangye S; Brink R; Phan T, 2016, 'Dynamic changes in gene regulatory networks control subcapsular sinus macrophage fate and function', in EUROPEAN JOURNAL OF IMMUNOLOGY, WILEY-BLACKWELL, AUSTRALIA, Melbourne, Vol. 46, pp. 430 - 430, presented at International Congress of Immunology (ICI), AUSTRALIA, Melbourne, 21 August 2016 - 26 August 2016, https://www.webofscience.com/api/gateway?GWVersion=2&SrcApp=PARTNER_APP&SrcAuth=LinksAMR&KeyUT=WOS:000383610401057&DestLinkType=FullRecord&DestApp=ALL_WOS&UsrCustomerID=891bb5ab6ba270e68a29b250adbe88d1

Edwards ESJ; Cole T; Wong M; Uzel G; Tangye SG, 2016, 'Effect of gain-of-function mutations in PI3 kinase p110d on the phenotype and function of EBV-specific CD8(+) T-cells', in EUROPEAN JOURNAL OF IMMUNOLOGY, WILEY-BLACKWELL, AUSTRALIA, Melbourne, Vol. 46, pp. 980 - 981, presented at International Congress of Immunology (ICI), AUSTRALIA, Melbourne, 21 August 2016 - 26 August 2016, https://www.webofscience.com/api/gateway?GWVersion=2&SrcApp=PARTNER_APP&SrcAuth=LinksAMR&KeyUT=WOS:000383610402365&DestLinkType=FullRecord&DestApp=ALL_WOS&UsrCustomerID=891bb5ab6ba270e68a29b250adbe88d1

Woon H; Braun A; Li J; Smith C; Edwards J; Sierro F; Feng C; Khanna R; Elliot M; Tangye S; Rickinson A; Gebhardt T; Britton W; Palendira M, 2016, 'IL-15 and TGF-beta promote the selective retention of virus-specific resident memory T cells in human lymphoid organs', in EUROPEAN JOURNAL OF IMMUNOLOGY, WILEY-BLACKWELL, AUSTRALIA, Melbourne, Vol. 46, pp. 57 - 57, presented at International Congress of Immunology (ICI), AUSTRALIA, Melbourne, 21 August 2016 - 26 August 2016, https://www.webofscience.com/api/gateway?GWVersion=2&SrcApp=PARTNER_APP&SrcAuth=LinksAMR&KeyUT=WOS:000383610400113&DestLinkType=FullRecord&DestApp=ALL_WOS&UsrCustomerID=891bb5ab6ba270e68a29b250adbe88d1

Vijayan D; Redzwan MN; Avery D; Wirasinha R; Brink R; Walters G; Adelstein S; Kobayashi M; Gray P; Elliott M; King C; Vinuesa C; Ghilardi N; Ma C; Tangye S; Batten M, 2016, 'IL-27 directly influences germinal center B cell development via STAT1', in EUROPEAN JOURNAL OF IMMUNOLOGY, WILEY-BLACKWELL, AUSTRALIA, Melbourne, Vol. 46, pp. 1082 - 1082, presented at International Congress of Immunology (ICI), AUSTRALIA, Melbourne, 21 August 2016 - 26 August 2016, https://www.webofscience.com/api/gateway?GWVersion=2&SrcApp=PARTNER_APP&SrcAuth=LinksAMR&KeyUT=WOS:000383610402571&DestLinkType=FullRecord&DestApp=ALL_WOS&UsrCustomerID=891bb5ab6ba270e68a29b250adbe88d1

Jandl C; Liu SM; Nieto FDCP; Warren J; Hughes WE; Vogelzang A; Webster K; Craig M; Uzel G; Tangye S; Dent A; Vinuesa C; Sprent J; King C, 2016, 'Interleukin-21 limits regulatory T cell populations by modulating responsiveness to Interleukin-2', in EUROPEAN JOURNAL OF IMMUNOLOGY, WILEY-BLACKWELL, AUSTRALIA, Melbourne, Vol. 46, pp. 102 - 102, presented at International Congress of Immunology (ICI), AUSTRALIA, Melbourne, 21 August 2016 - 26 August 2016, https://www.webofscience.com/api/gateway?GWVersion=2&SrcApp=PARTNER_APP&SrcAuth=LinksAMR&KeyUT=WOS:000383610400203&DestLinkType=FullRecord&DestApp=ALL_WOS&UsrCustomerID=891bb5ab6ba270e68a29b250adbe88d1

Tangye S, 2016, 'Intrinsic functional defects in human lymphocytes: insights into disease pathogenesis of primary immunodeficiencies', in EUROPEAN JOURNAL OF IMMUNOLOGY, WILEY-BLACKWELL, AUSTRALIA, Melbourne, Vol. 46, pp. 1000 - 1000, presented at International Congress of Immunology (ICI), AUSTRALIA, Melbourne, 21 August 2016 - 26 August 2016, https://www.webofscience.com/api/gateway?GWVersion=2&SrcApp=PARTNER_APP&SrcAuth=LinksAMR&KeyUT=WOS:000383610402407&DestLinkType=FullRecord&DestApp=ALL_WOS&UsrCustomerID=891bb5ab6ba270e68a29b250adbe88d1

Suan D; Krautler N; Maag J; Butt D; Wood K; Hermes J; Priestley D; Statham A; Elliott M; Marcel D; Basten A; Tangye S; Brink R, 2016, 'Memory B cells develop from low-affinity clones in the germinal center light zone and are identified by CCR6 expression in mice and humans', in EUROPEAN JOURNAL OF IMMUNOLOGY, WILEY-BLACKWELL, AUSTRALIA, Melbourne, Vol. 46, pp. 1132 - 1133, presented at International Congress of Immunology (ICI), AUSTRALIA, Melbourne, 21 August 2016 - 26 August 2016, https://www.webofscience.com/api/gateway?GWVersion=2&SrcApp=PARTNER_APP&SrcAuth=LinksAMR&KeyUT=WOS:000383610402674&DestLinkType=FullRecord&DestApp=ALL_WOS&UsrCustomerID=891bb5ab6ba270e68a29b250adbe88d1

Pelham SJ; Lenthall H; Deenick EK; Tangye SG, 2016, 'Mutations underlying autosomal dominant hyper-IgE syndrome impair distinct stages of STAT3 signaling', in EUROPEAN JOURNAL OF IMMUNOLOGY, WILEY-BLACKWELL, AUSTRALIA, Melbourne, Vol. 46, pp. 139 - 140, presented at International Congress of Immunology (ICI), AUSTRALIA, Melbourne, 21 August 2016 - 26 August 2016, https://www.webofscience.com/api/gateway?GWVersion=2&SrcApp=PARTNER_APP&SrcAuth=LinksAMR&KeyUT=WOS:000383610400280&DestLinkType=FullRecord&DestApp=ALL_WOS&UsrCustomerID=891bb5ab6ba270e68a29b250adbe88d1

Martinez-Barricarte R; Kong X-F; Kennedy J; Lazarov T; Deenick E; Ma C; Mele F; Trouillet C; Bousfiha A; Aytekin C; Picard C; Salem S; Langlais D; Lasseau T; Migaud M; Abel L; Boisson-Dupuis S; Hambleton S; B S; Geissmann F; Tangye S; Sallusto F; Bustamante J; Gros P; Casanova J-L, 2016, 'Mycobacterial disease and myeloid dendritic cells defects in patients with SPPL2a deficiency', in EUROPEAN JOURNAL OF IMMUNOLOGY, WILEY-BLACKWELL, AUSTRALIA, Melbourne, Vol. 46, pp. 777 - 778, presented at International Congress of Immunology (ICI), AUSTRALIA, Melbourne, 21 August 2016 - 26 August 2016, https://www.webofscience.com/api/gateway?GWVersion=2&SrcApp=PARTNER_APP&SrcAuth=LinksAMR&KeyUT=WOS:000383610401757&DestLinkType=FullRecord&DestApp=ALL_WOS&UsrCustomerID=891bb5ab6ba270e68a29b250adbe88d1

Butt D; Chan T; Bourne K; Hermes J; Strasser A; Tangye S; Phan T; Rao VK; Brink R, 2016, 'Rogue germinal center B cells: unconventional lymphocytes released by FAS inactivation that drive IgE and autoantibody production', in EUROPEAN JOURNAL OF IMMUNOLOGY, WILEY-BLACKWELL, AUSTRALIA, Melbourne, Vol. 46, pp. 25 - 26, presented at International Congress of Immunology (ICI), AUSTRALIA, Melbourne, 21 August 2016 - 26 August 2016, https://www.webofscience.com/api/gateway?GWVersion=2&SrcApp=PARTNER_APP&SrcAuth=LinksAMR&KeyUT=WOS:000383610400052&DestLinkType=FullRecord&DestApp=ALL_WOS&UsrCustomerID=891bb5ab6ba270e68a29b250adbe88d1

Kane A; Lau A; Brink R; Tangye S; Deenick E, 2016, 'STAT3 is a critical B-cell intrinsic regulator of functional antibody responses and IgE production', in EUROPEAN JOURNAL OF IMMUNOLOGY, WILEY-BLACKWELL, AUSTRALIA, Melbourne, Vol. 46, pp. 849 - 849, presented at International Congress of Immunology (ICI), AUSTRALIA, Melbourne, 21 August 2016 - 26 August 2016, https://www.webofscience.com/api/gateway?GWVersion=2&SrcApp=PARTNER_APP&SrcAuth=LinksAMR&KeyUT=WOS:000383610402097&DestLinkType=FullRecord&DestApp=ALL_WOS&UsrCustomerID=891bb5ab6ba270e68a29b250adbe88d1

Pillay BA; Ma CS; Casanova JL; Uzel G; Tangye SG, 2016, 'Using immunodeficiency patient cells in in vitro cultures to provide insight into T-helper cell differentiation', in EUROPEAN JOURNAL OF IMMUNOLOGY, WILEY-BLACKWELL, AUSTRALIA, Melbourne, Vol. 46, pp. 988 - 989, presented at International Congress of Immunology (ICI), AUSTRALIA, Melbourne, 21 August 2016 - 26 August 2016, https://www.webofscience.com/api/gateway?GWVersion=2&SrcApp=PARTNER_APP&SrcAuth=LinksAMR&KeyUT=WOS:000383610402382&DestLinkType=FullRecord&DestApp=ALL_WOS&UsrCustomerID=891bb5ab6ba270e68a29b250adbe88d1

Tangye SG, 2016, 'DEFECTS IN HUMAN B-CELL DEVELOPMENT AND DIFFERENTIATION DUE TO DISEASE-CAUSING MUTATIONS IN THE PI3K PATHWAY', in JOURNAL OF CLINICAL IMMUNOLOGY, SPRINGER/PLENUM PUBLISHERS, Boston, MA, Vol. 36, pp. 298 - 299, presented at CIS Annual Meeting on Immune Deficiency and Dysregulation North American Conference, Boston, MA, 14 April 2016 - 17 April 2016, http://dx.doi.org/10.1007/s10875-016-0237-x

Martinez-Barricarte R; Aytekin C; Markle J; Kong X-F; Fleckenstein B; Tangye SG; van de Vosse E; Boisson-Dupuis S; Bustamante J; Casanova J-L, 2016, 'INHERITED IL-12R beta 2 DEFICIENCY CAUSES MYCOBACTERIAL SUSCEPTIBILITY', in JOURNAL OF CLINICAL IMMUNOLOGY, SPRINGER/PLENUM PUBLISHERS, MA, Boston, Vol. 36, pp. 270 - 270, presented at CIS Annual Meeting on Immune Deficiency and Dysregulation North American Conference, MA, Boston, 14 April 2016 - 17 April 2016, https://www.webofscience.com/api/gateway?GWVersion=2&SrcApp=PARTNER_APP&SrcAuth=LinksAMR&KeyUT=WOS:000372165300095&DestLinkType=FullRecord&DestApp=ALL_WOS&UsrCustomerID=891bb5ab6ba270e68a29b250adbe88d1

Bosch B; Dockx S; Tangye SG; Meyts I; Moens L, 2016, 'IPEX ... ARE ALL FEMALE CARRIERS HEALTHY?', in JOURNAL OF CLINICAL IMMUNOLOGY, SPRINGER/PLENUM PUBLISHERS, MA, Boston, Vol. 36, pp. 252 - 252, presented at CIS Annual Meeting on Immune Deficiency and Dysregulation North American Conference, MA, Boston, 14 April 2016 - 17 April 2016, https://www.webofscience.com/api/gateway?GWVersion=2&SrcApp=PARTNER_APP&SrcAuth=LinksAMR&KeyUT=WOS:000372165300050&DestLinkType=FullRecord&DestApp=ALL_WOS&UsrCustomerID=891bb5ab6ba270e68a29b250adbe88d1

Markle J; Okada S; Deenick E; Mele F; Averbuch D; Lagos M; Gonzalez M; Alzahrani M; Soudais C; Henderson L; Deswarte C; Jabot-Hanin F; Martinez-Barricarte R; Itan Y; Boisson B; Cooper A; Picard C; Abel L; Notarangelo L; Boisson-Dupuis S; Puel A; Sallusto F; Bustamante J; Tangye S; Casanova J-L, 2015, 'Impairment of IL-17A/F Immunity to Candida and IFN-g Immunity to Mycobacterium in Patients with RORC Deficiency', in JOURNAL OF CLINICAL IMMUNOLOGY, SPRINGER/PLENUM PUBLISHERS, ARGENTINA, Buenos Aires, Vol. 35, pp. S13 - S14, presented at 4th Meeting of the Latin-American-Society-for-Immunodeficiencies (LASID), ARGENTINA, Buenos Aires, 18 November 2015 - 21 November 2015, https://www.webofscience.com/api/gateway?GWVersion=2&SrcApp=PARTNER_APP&SrcAuth=LinksAMR&KeyUT=WOS:000363977700030&DestLinkType=FullRecord&DestApp=ALL_WOS&UsrCustomerID=891bb5ab6ba270e68a29b250adbe88d1

Williams KW; Edwards E; Stoddard JL; Martinez B; Chen CC; Agharahimi A; Hussey AA; Niemala JE; Holland SM; Tangye SG; Uzel G, 2015, 'PRELIMINARY DATA FOR mTOR INHIBITOR TREATMENT IN PATIENTS WITH OF GAIN-OF-FUNCTION MUTATIONS IN PIK3CD', in JOURNAL OF CLINICAL IMMUNOLOGY, SPRINGER/PLENUM PUBLISHERS, TX, Houston, Vol. 35, pp. 314 - 315, presented at North American Annual Conference of the Clinical-Immunology-Society (CIS) on Immune Deficiency and Dysregulation, TX, Houston, 09 April 2015 - 12 April 2015, https://www.webofscience.com/api/gateway?GWVersion=2&SrcApp=PARTNER_APP&SrcAuth=LinksAMR&KeyUT=WOS:000351510200043&DestLinkType=FullRecord&DestApp=ALL_WOS&UsrCustomerID=891bb5ab6ba270e68a29b250adbe88d1

Gray P; Walsh C; Zhu Y; Elakis G; Mullan G; Lo W; Lee E; Cowley M; Dinger M; Buckley M; Ziegler J; Tangye S; Roscioli T, 2014, 'Extrapulmonary Non-Tuberculous Mycobacterial Infection in a Child with Autosomal Dominant Hyper IgE Syndrome', in JOURNAL OF CLINICAL IMMUNOLOGY, SPRINGER/PLENUM PUBLISHERS, CZECH REPUBLIC, Prague, Vol. 34, pp. S499 - S500, presented at 16th Biennial Meeting of the European-Society-for-Immunodeficiencies, CZECH REPUBLIC, Prague, 29 October 2014 - 01 November 2014, https://www.webofscience.com/api/gateway?GWVersion=2&SrcApp=PARTNER_APP&SrcAuth=LinksAMR&KeyUT=WOS:000347389100775&DestLinkType=FullRecord&DestApp=ALL_WOS&UsrCustomerID=891bb5ab6ba270e68a29b250adbe88d1

Frith K; O'Brien T; Tangye S; Sutton R; Ziegler J; Gray P, 2014, 'XLP-Associated Cerebral Vasculitis Successfully Treated with Bone Marrow Transplant', in JOURNAL OF CLINICAL IMMUNOLOGY, SPRINGER/PLENUM PUBLISHERS, Prague, CZECH REPUBLIC, Vol. 34, pp. S241 - S241, presented at 16th Biennial Meeting of the European-Society-for-Immunodeficiencies, Prague, CZECH REPUBLIC, 29 October 2014 - 01 November 2014, http://gateway.webofknowledge.com/gateway/Gateway.cgi?GWVersion=2&SrcApp=PARTNER_APP&SrcAuth=LinksAMR&KeyUT=WOS:000347389100212&DestLinkType=FullRecord&DestApp=ALL_WOS&UsrCustomerID=891bb5ab6ba270e68a29b250adbe88d1

Reports

Tangye SG, 2016, Genetic cause of immune dysregulation one gene or two?, http://dx.doi.org/10.1172/JCI90831

Ma CS; Tangye SG, 2016, Immunology: Cytotoxic T cells that escape exhaustion, http://dx.doi.org/10.1038/nature19428

Bryant VL; Tangye SG, 2016, The Expanding Spectrum of NFkB1 Deficiency, http://dx.doi.org/10.1007/s10875-016-0310-5

Working Papers

Manry J; Bastard P; Gervais A; Le Voyer T; Rosain J; Philippot Q; Michailidis E; Hoffmann H-H; Eto S; Garcia-Prat M; Bizien L; Parra-Martínez A; Yang R; Haljasmägi L; Migaud M; Särekannu K; Maslovskaja J; de Prost N; Tandjaoui-Lambiotte Y; Luyt C-E; Amador-Borrero B; Gaudet A; Poissy J; Morel P; Richard P; Cognasse F; Troya J; Trouillet-Assant S; Belot A; Saker K; Garçon P; Rivière JG; Lagier J-C; Gentile S; Rosen L; Shaw E; Morio T; Tanaka J; Dalmau D; Tharaux P-L; Sene D; Stepanian A; Mégarbane B; Triantafyllia V; Fekkar A; Heath J; Franco J; Anaya J-M; Solé-Violán J; Imberti L; Biondi A; Bonfanti P; Castagnoli R; Delmonte O; Zhang Y; Snow A; Holland S; Biggs C; Moncada-Vélez M; Arias A; Lorenzo L; Boucherit S; Anglicheau D; Planas A; Haerynck F; Duvlis S; Nussbaum R; Ozcelik T; Keles S; Bousfiha A; El Bakkouri J; Ramirez-Santana C; Paul S; Pan-Hammarstrom Q; Hammarstrom L; Dupont A; Kurolap A; Metz C; Aiuti A; Casari G; Lampasona V; Ciceri F; Barreiros L; Dominguez-Garrido E; Vidigal M; Zatz M; van de Beek D; Sahanic S; Tancevski I; Stepanovskyy Y; Boyarchuk O; Nukui Y; Tsumura M; Vidaur L; Tangye S; Burrel S; Duffy D; Quintana-Murci L; Klocperk A; Kann N; Shcherbina A; Lau Y-L; Leung D; Coulongeat M; Marlet J; Koning R; Reyes L; Chauvineau-Grenier A; Venet F; Monneret G; Nussenzweig M; Arrestier R; Boudhabhay I; Baris-Feldman H; Hagin D; Wauters J; Meyts I; Dyer A; Kennelly S; Bourke N; Halwani R; Sharif-Askari F; Dorgham K; Sallette J; Mehlal-Sedkaoui S; AlKhater S; Rigo-Bonnin R; Morandeira F; Roussel L; Vinh D; Erikstrup C; Condino-Neto A; Prando C; Bondarenko A; Spaan A; Gilardin L; Fellay J; Lyonnet S; Bilguvar K; Lifton R; Mane S; Anderson M; Boisson B; Béziat V; Zhang S-Y; Andreakos E; Hermine O; Pujol A; Peterson P; Mogensen TH; Rowen L; Mond J; Debette S; deLamballerie X; Burdet C; Bouadma L; Zins M; Soler-Palacin P; Colobran R; Gorochov G; Solanich X; Susen S; Martinez-Picado J; Raoult D; Vasse M; Gregersen P; Rodríguez-Gallego C; Piemonti L; Notarangelo L; Su H; Kisand K; Okada S; Puel A; Jouanguy E; Rice C; Tiberghien P; Zhang Q; Casanova J-L; Abel L; Cobat A, 2022, The risk of COVID-19 death is much greater and age-dependent with type I IFN autoantibodies., http://dx.doi.org10.21203/rs.3.rs-1225906/v1, https://www.ncbi.nlm.nih.gov/pubmed/35043109

Preprints

Forkgen J; Masle-Farquhar E; Fontaine Y; Russell A; Ji S; Peters TJ; Qiao Z; Geaghan M; Jackson KJL; Hammond JM; Deveson IW; David C; Lemberg DA; Gupta N; Fuentes-Bolanos N; Mustjoki S; Hwa V; Tangye SG; Gray PE; Siggs OM, 2024, Sequential mosaic variants inKRASandSTAT5Bassociated with a mixed phenotype of two acquired errors of immunity, http://dx.doi.org/10.1101/2024.08.07.24311150

Singh M; Louie RHY; Samir J; Field MA; Milthorpe C; Aldiriki T; Mackie J; Roper E; Faulks M; Jackson KJL; Calcino A; Hardy MY; Blombery P; Amos TG; Deveson IW; Read SA; Shek D; Guerin A; Ma CS; Tangye SG; Sabatino AD; Lenti MV; Pasini A; Ciccocioppo R; Ahlenstiel G; Suan D; Tye-Din JA; Goodnow CC; Luciani F, 2024, Expanded T cell clones with lymphoma driver somatic mutations in refractory celiac disease, http://dx.doi.org/10.1101/2024.03.17.24304320

Bier J; Lau A; Jackson KJL; Ruiz-Diaz S; Brink R; Tangye S; Deenick E, 2024, Both T and B cells contribute to dysregulated activation and differentiation of CD4⁺T cells in Activated PI3K delta syndrome 1, http://dx.doi.org/10.1101/2024.08.04.606503

Marchal A; Cirulli ET; Neveux I; Bellos E; Thwaites RS; Schiabor Barrett KM; Zhang Y; Nemes-Bokun I; Kalinova M; Catchpole A; Tangye SG; Spaan AN; Lack JB; Ghosn J; Burdet C; Gorochov G; Tubach F; Hausfater P; COVID Human Genetic Effort ; COVIDeF Study Group ; French COVID Cohort Study Group ; CoV-Contact Cohort ; COVID-STORM Clinicians ; COVID Clinicians ; Orchestra Working Group ; Amsterdam UMC Covid-19 Biobank ; NIAID-USUHS COVID Study Group ; Dalgard CL; Zhang S-Y; Zhang Q; Chiu C; Fellay J; Grzymski JJ; Sancho-Shimizu V; Abel L; Casanova J-L; Cobat A; Bolze A, 2023, Lack of association between HLA and asymptomatic SARS-CoV-2 infection., http://dx.doi.org/10.1101/2023.12.06.23299623

Noma K; Tsumura M; Nguyen T; Asano T; Sakura F; Tamaura M; Imanaka Y; Mizoguchi Y; Karakawa S; Hayakawa S; Shoji T; Hosokawa J; Izawa K; Ling Y; Casanova J-L; Puel A; Tangye SG; Ma CS; Ohara O; Okada S, 2023, Isolated chronic mucocutaneous candidiasis due to a novel duplication variant of IL17RC., http://dx.doi.org/10.21203/rs.3.rs-3062583/v1

Voyer TL; Gervais A; Rosain J; Parent A; Cederholm A; Rinchai D; Bizien L; Hancioglu G; Philippot Q; Gueye MS; Luxman MR; Renkilaraj M; Ogishi M; Soudée C; Migaud M; Rozenberg F; Momenilandi M; Riller Q; Imberti L; Delmonte O; Müller G; Keller B; Orrego J; Gallego WA; Rubin T; Emiroglu M; Parvaneh N; Eriksson D; Aranda-Guillen M; Berrios DI; Vong L; Katelaris CH; Mustillo P; Rädler J; Bohlen J; Celik JB; Astudillo C; Winter S; Guichard A; Béziat V; Bustamante J; Pan-Hammarström Q; Zhang Y; Rosen LB; Holland SM; Kenney H; Boztuğ K; Mahlaoui N; Latour S; Abraham R; Lougaris V; Hauck F; Sediva A; Atschekzei F; Poli MC; Slatter MA; Palterer B; Keller MD; Pinzon-Charry A; Sullivan A; Droney L; Suan D; Aladjidi N; Hie M; Lazaro E; Franco J; Keles S; Malphette M; Pasquet M; Maccari ME; Meinhardt A; Ikinciogullari A; Shahrooei M; Celmeli F; Frosk P; Goodnow CC; Gray PE; Belot A; Kuehn HS; Rosenzweig SD; Licciardi F; Servettaz A; Barlogis V; Guenno GL; Herrmann V-M; Kuijpers T; Ducoux G; Sarrot-Reynauld F; Schuetz C; Cunningham-Rundles C; Rieux-Laucat F; Tangye SG; Sobacchi C; Doffinger R; Warnatz K; Grimbacher B; Fieschi C; Berteloot L; Bryant V; Assant ST; Notarangelo LD; Su H; Neven B; Abel L; Zhang Q; Boisson B; Cobat A; Jouanguy E; Kampe O; Bastard P; Roifman C; Landegren N; Anderson MS; Casanova J-L; Puel A, 2023, Impaired thymic AIRE expression underlies autoantibodies against type I IFNs in humans with inborn errors of the alternative NF-kB pathway, http://dx.doi.org/10.22541/au.167330741.18394805/v1

Masle-Farquhar E; Jackson KJL; Peters T; Al-Eryani G; Singh M; Payne K; Rao G; Apps G; Kingham J; Jara C; Skvortsova K; Swarbrick A; Ma C; Suan D; Uzel G; Chua I; Leiding J; Heiskanen K; Preece K; Kainulainen L; O’Sullivan M; Cooper M; Seppänen MRJ; Mustjoki S; Brothers S; Vogel T; Brink R; Tangye S; Reed J; Goodnow C, 2022, STAT3gain-of-function mutations connect leukemia with autoimmune disease by pathological dysregulation of NKG2D^hiCD8 killer T cells, http://dx.doi.org/10.1101/2022.02.11.480027

Akerman A; Milogiannakis V; Jean T; Esneau C; Silva MR; Ison T; Fitcher C; Lopez J; Chandra D; Naing Z; Caguicla J; Li D; Walker G; Amatayakul-Chantler S; Roth N; Manni S; Hauser T; Barnes T; Condylios A; Yeang M; Wong M; Foster CSP; Sato K; Lee S; Song Y; Mao L; Sigmund A; Phu A; Vande More AM; Hunt S; Douglas M; Caterson I; Sandgren K; Bull R; Lloyd A; Triccas J; Tangye S; Bartlett N; Darley D; Matthews G; Stark D; Rawlinson W; Murrell B; Brilot F; Cunningham A; Kelleher A; Aggarwal A; Turville S, 2022, Emergence and antibody evasion of BQ, BA.2.75 and SARS-CoV-2 recombinant sublineages in the face of maturing antibody breadth at the population level, http://dx.doi.org/10.1101/2022.12.06.22283000

Zammit N; Gray P; Siggs O; Yap JY; Russell A; Cultrone D; Warren J; Walters S; Brink R; Zahra D; Burnett D; Gayevskiy V; Minoche A; Ziegler J; Craig M; Wong M; Benitez-Aguirre P; Teo J; Cowley M; Dinger M; Tangye S; Burke C; Phan T; Goodnow C; Grey S, 2022, Environmental and genetic disease modifiers of haploinsufficiency of A20, http://dx.doi.org/10.1101/2022.03.19.485004

Masle-Farquhar E; Peters T; Jackson KJL; Singh M; Ma C; Suan D; Uzel G; Chua I; Leiding J; Heiskanen K; Preece K; Kainulainen L; O’Sullivan M; Cooper M; Seppänen MRJ; Mustjoki S; Brothers S; Vogel T; Brink R; Tangye S; Reed J; Goodnow C, 2021, Overactive STAT3 drives accumulation of disease-associated CD21^lowB cells, http://dx.doi.org/10.1101/2021.12.20.473595

Hensen L; Illing PT; Clemens EB; Nguyen THO; Koutsakos M; van de Sandt CE; Mifsud NA; Nguyen A; Szeto C; Chua BY; Halim H; Rizzetto S; Luciani F; Loh L; Grant EJ; Saunders PM; Brooks AG; Rockman S; Kotsimbos TC; Cheng AC; Richards M; Westall GP; Wakim LM; Loudovaris T; Mannering SI; Elliott M; Tangye SG; Jackson DC; Flanagan KL; Rossjohn J; Gras S; Davies J; Miller A; Tong SYC; Purcell AW; Kedzierska K, 2020, CD8⁺T-cell landscape in Indigenous and non-Indigenous people restricted by influenza mortality-associated HLA-A*24:02 allomorph, http://dx.doi.org/10.1101/2020.10.02.20206086

Yang R; Mele F; Worley L; Langlais D; Rosain J; Benhsaien I; Elarabi H; Croft CA; Doisne J-M; Zhang P; Weisshaar M; Jarrossay D; Latorre D; Shen Y; Han J; Gruber C; Markle J; Al Ali F; Rahman M; Khan T; Seeleuthner Y; Kerner G; Husquin LT; Maclsaac JL; Jeljeli M; Ailal F; Kobor MS; Oleaga-Quintas C; Roynard M; Bourgey M; El Baghdadi J; Boisson-Dupuis S; Puel A; Batteux F; Rozenberg F; Marr N; Pan-Hammarström Q; Bogunovic D; Quintana-Murci L; Carroll T; Ma CS; Abel L; Bousfiha A; Di Santo JP; Glimcher LH; Gros P; Tangye SG; Sallusto F; Bustamante J; Casanova J-L, 2020, Human T-bet governs innate and innate-like adaptive IFN-γ immunity against mycobacteria, http://dx.doi.org/10.1101/2020.08.31.274589

Guérin A; Kerner G; Marr N; Markle JG; Fenollar F; Wong N; Boughorbel S; Avery DT; Ma CS; Bougarn S; Bouaziz M; Beziat V; Della Mina E; Lazarovt T; Worley L; Nguyen T; Patin E; Deswarte C; Martinez-Barricarte R; Boucherit S; Ayral X; Edouard S; Boisson-Dupuis S; Rattina V; Bigio B; Vogt G; Geissmann F; Quintana-Murci L; Chaussabel D; Tangye SG; Raoult D; Abel L; Bustamante J; Casanova J-L, 2017, IRF4 haploinsufficiency in a family with Whipple’s disease, http://dx.doi.org/10.1101/197145

Masle-Farquhar E; Peters TJ; Jackson KJL; Singh M; Ma CS; Suan D; Uzel G; Chua I; Leiding JW; Heiskanen K; Preece K; Kainulainen L; O’Sullivan M; Cooper MA; Seppänen MRJ; Mustjoki S; Brothers S; Vogel TP; Brink R; Tangye SG; Reed JH; Goodnow CC, Overactive STAT3 Drives Accumulation of Disease-Associated CD21 ^low B Cells, http://dx.doi.org/10.2139/ssrn.3996405

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