Select Publications

Journal articles

Gray PE; Bartlett AW; Tangye SG, 2022, 'Severe COVID-19 represents an undiagnosed primary immunodeficiency in a high proportion of infected individuals', Clinical and Translational Immunology, 11, pp. e1365, http://dx.doi.org/10.1002/cti2.1365

Hensen L; Illing PT; Bridie Clemens E; Nguyen THO; Koutsakos M; van de Sandt CE; Mifsud NA; Nguyen AT; 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, 2021, 'CD8+ T cell landscape in Indigenous and non-Indigenous people restricted by influenza mortality-associated HLA-A*24:02 allomorph', Nature Communications, 12, http://dx.doi.org/10.1038/s41467-021-23212-x

Bucciol G; Tangye SG; Meyts I, 2021, 'Coronavirus disease 2019 in patients with inborn errors of immunity: Lessons learned', Current Opinion in Pediatrics, 33, pp. 648 - 656, http://dx.doi.org/10.1097/MOP.0000000000001062

Tangye SG; Bucciol G; Meyts I, 2021, 'Mechanisms underlying host defense and disease pathology in response to severe acute respiratory syndrome (SARS)-CoV2 infection: Insights from inborn errors of immunity', Current Opinion in Allergy and Clinical Immunology, 21, pp. 515 - 524, http://dx.doi.org/10.1097/ACI.0000000000000786

Yap JY; Moens L; Lin MW; Kane A; Kelleher A; Toong C; Wu KHC; Sewell WA; Phan TG; Hollway GE; Enthoven K; Gray PE; Casas-Martin J; Wouters C; De Somer L; Hershfield M; Bucciol G; Delafontaine S; Ma CS; Tangye SG; Meyts I, 2021, 'Intrinsic Defects in B Cell Development and Differentiation, T Cell Exhaustion and Altered Unconventional T Cell Generation Characterize Human Adenosine Deaminase Type 2 Deficiency', Journal of Clinical Immunology, 41, pp. 1915 - 1935, http://dx.doi.org/10.1007/s10875-021-01141-0

Tangye SG; Ma CS, 2021, 'Molecular regulation and dysregulation of T follicular helper cells – learning from inborn errors of immunity', Current Opinion in Immunology, 72, pp. 249 - 261, http://dx.doi.org/10.1016/j.coi.2021.06.011

Lévy R; Langlais D; Béziat V; Rapaport F; Rao G; Lazarov T; Bourgey M; Zhou YJ; Briand C; Moriya K; Ailal F; Avery DT; Markle J; Lim AI; Ogishi M; Yang R; Pelham S; Emam M; Migaud M; Deswarte C; Habib T; Saraiva LR; Moussa EA; Guennoun A; Boisson B; Belkaya S; Martinez-Barricarte R; Rosain J; Belkadi A; Breton S; Payne K; Benhsaien I; Plebani A; Lougaris V; Di Santo JP; Neven B; Abel L; Ma CS; Bousfiha AA; Marr N; Bustamante J; Liu K; Gros P; Geissmann F; Tangye SG; Casanova JL; Puel A, 2021, 'Inherited human c-Rel deficiency disrupts myeloid and lymphoid immunity to multiple infectious agents', Journal of Clinical Investigation, 131, http://dx.doi.org/10.1172/JCI150143

Ogishi M; Yang R; Aytekin C; Langlais D; Bourgey M; Khan T; Ali FA; Rahman M; Delmonte OM; Chrabieh M; Zhang P; Gruber C; Pelham SJ; Spaan AN; Rosain J; Lei WT; Drutman S; Hellmann MD; Callahan MK; Adamow M; Wong P; Wolchok JD; Rao G; Ma CS; Nakajima Y; Yaguchi T; Chamoto K; Williams SC; Emile JF; Rozenberg F; Glickman MS; Rapaport F; Kerner G; Allington G; Tezcan I; Cagdas D; Hosnut FO; Dogu F; Ikinciogullari A; Rao VK; Kainulainen L; Béziat V; Bustamante J; Vilarinho S; Lifton RP; Boisson B; Abel L; Bogunovic D; Marr N; Notarangelo LD; Tangye SG; Honjo T; Gros P; Boisson-Dupuis S; Casanova JL, 2021, 'Inherited PD-1 deficiency underlies tuberculosis and autoimmunity in a child', Nature Medicine, 27, pp. 1646 - 1654, http://dx.doi.org/10.1038/s41591-021-01388-5

Hewavisenti RV; Ferguson AL; Gasparini G; Ohashi T; Braun A; Watkins TS; Miles JJ; Elliott M; Sierro F; Feng CG; Britton WJ; Gebhardt T; Tangye S; Palendira U, 2021, 'Tissue-resident regulatory T cells accumulate at human barrier lymphoid organs', Immunology and Cell Biology, 99, pp. 894 - 906, http://dx.doi.org/10.1111/imcb.12481

Bastard P; Gervais A; Voyer TL; Rosain J; Philippot Q; Manry J; Michailidis E; Hoffmann HH; 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 CE; 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 JC; Gentile S; Rosen LB; Shaw E; Morio T; Tanaka J; Dalmau D; Tharaux PL; Sene D; Stepanian A; Megarbane B; Triantafyllia V; Fekkar A; Heath JR; Franco JL; Anaya JM; Solé-Violán J; Imberti L; Biondi A; Bonfanti P; Castagnoli R; Delmonte OM; Zhang Y; Snow AL; Holland SM; Biggs CM; Moncada-Vélez M; Arias AA; Lorenzo L; Boucherit S; Coulibaly B; Anglicheau D; Planas AM; Haerynck F; Duvlis S; Nussbaum RL; Ozcelik T; Keles S; Bousfiha AA; El Bakkouri J; Ramirez-Santana C; Paul S; Pan-Hammarström Q; Hammarström L; Dupont A; Kurolap A; Metz CN; Aiuti A; Casari G; Lampasona V; Ciceri F; Barreiros LA; 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 SG; Burrel S; Duffy D; Quintana-Murci L; Klocperk A, 2021, 'Autoantibodies neutralizing type I IFNs are present in ~4% of uninfected individuals over 70 years old and account for ~20% of COVID-19 deaths', Science Immunology, 6, http://dx.doi.org/10.1126/sciimmunol.abl4340

Asano T; Khourieh J; Zhang P; Rapaport F; Spaan AN; Li J; Lei WT; Pelham SJ; Hum D; Chrabieh M; Han JE; Guérin A; Mackie J; Gupta S; Saikia B; Baghdadi JEI; Fadil I; Bousfiha A; Habib T; Marr N; Ganeshanandan L; Peake J; Droney L; Williams A; Celmeli F; Hatipoglu N; Ozcelik T; Picard C; Abel L; Tangye SG; Boisson-Dupuis S; Zhang Q; Puel A; Béziat V; Casanova JL; Boisson B, 2021, 'Human stat3 variants underlie autosomal dominant hyper-igesyndromebynegativedominance', Journal of Experimental Medicine, 218, http://dx.doi.org/10.1084/jem.20202592

Eisenbarth SC; Baumjohann D; Craft J; Fazilleau N; Ma CS; Tangye SG; Vinuesa CG; Linterman MA, 2021, 'CD4+ T cells that help B cells – a proposal for uniform nomenclature', Trends in Immunology, 42, pp. 658 - 669, http://dx.doi.org/10.1016/j.it.2021.06.003

Cagdas D; Mayr D; Baris S; Worley L; Langley DB; Metin A; Aytekin ES; Atan R; Kasap N; Bal SK; Dmytrus J; Heredia RJ; Karasu G; Torun SH; Toyran M; Karakoc-Aydiner E; Christ D; Kuskonmaz B; Uçkan-Çetinkaya D; Uner A; Oberndorfer F; Schiefer AI; Uzel G; Deenick EK; Keller B; Warnatz K; Neven B; Durandy A; Sanal O; Ma CS; Özen A; Stepensky P; Tezcan I; Boztug K; Tangye SG, 2021, 'Genomic Spectrum and Phenotypic Heterogeneity of Human IL-21 Receptor Deficiency', Journal of Clinical Immunology, 41, pp. 1272 - 1290, http://dx.doi.org/10.1007/s10875-021-01031-5

Bucciol G; Tousseyn T; Jansen K; Casteels I; Tangye SG; Breuer J; Brown JR; Wollants E; Van Ranst M; Moens L; Mekahli D; Meyts I, 2021, 'Hematopoietic Stem Cell Transplantation Cures Chronic Aichi Virus Infection in a Patient with X-linked Agammaglobulinemia', Journal of Clinical Immunology, 41, pp. 1403 - 1405, http://dx.doi.org/10.1007/s10875-021-01056-w

Béziat V; Rapaport F; Hu J; Titeux M; Bonnet des Claustres M; Bourgey M; Griffin H; Bandet É; Ma CS; Sherkat R; Rokni-Zadeh H; Louis DM; Changi-Ashtiani M; Delmonte OM; Fukushima T; Habib T; Guennoun A; Khan T; Bender N; Rahman M; About F; Yang R; Rao G; Rouzaud C; Li J; Shearer D; Balogh K; Al Ali F; Ata M; Dabiri S; Momenilandi M; Nammour J; Alyanakian MA; Leruez-Ville M; Guenat D; Materna M; Marcot L; Vladikine N; Soret C; Vahidnezhad H; Youssefian L; Saeidian AH; Uitto J; Catherinot É; Navabi SS; Zarhrate M; Woodley DT; Jeljeli M; Abraham T; Belkaya S; Lorenzo L; Rosain J; Bayat M; Lanternier F; Lortholary O; Zakavi F; Gros P; Orth G; Abel L; Prétet JL; Fraitag S; Jouanguy E; Davis MM; Tangye SG; Notarangelo LD; Marr N; Waterboer T; Langlais D; Doorbar J; Hovnanian A; Christensen N; Bossuyt X; Shahrooei M; Casanova JL, 2021, 'Humans with inherited T cell CD28 deficiency are susceptible to skin papillomaviruses but are otherwise healthy', Cell, 184, pp. 3812 - 3828.e30, http://dx.doi.org/10.1016/j.cell.2021.06.004

Yang R; Weisshaar M; Mele F; Benhsaien I; Dorgham K; Han J; Croft CA; Notarbartolo S; Rosain J; Bastard P; Puel A; Fleckenstein B; Glimcher LH; Di Santo JP; Ma CS; Gorochov G; Bousfiha A; Abel L; Tangye SG; Casanova JL; Bustamante J; Sallusto F, 2021, 'High Th2 cytokine levels and upper airway inflammation in human inherited T-bet deficiency', Journal of Experimental Medicine, 218, http://dx.doi.org/10.1084/jem.20202726

Sancho-Shimizu V; Brodin P; Cobat A; Biggs CM; Toubiana J; Lucas CL; Henrickson SE; Belot A; Tangye SG; Milner JD; Levin M; Abel L; Bogunovic D; Casanova JL; Zhang SY; Haddad E; Beland K; Pujol A; Schlüter A; Planas-Serra L; Aguilera-Albesa S; Valencia-Ramos J; Rodríguez-Palmero A; Gut M; Rivière JG; Colobran R; Soler-Palacin P; Rodriguez-Gallego C; de Diego RP; Flores C; Alsina L; Blazquez-Gamero D; Jordan I; Keles S; Emiroglu M; Akcan OM; Alkan G; Aytekin SE; Gul Y; Tüter Öz ŞK; Bozdemir SE; Bayhan GI; Yüksek SK; Parlakay AÖ; Gülhan B; Yahşi A; Kilic AO; Karbuz A; Erdeniz EH; Özkan EA; Orbak Z; Aydemir Ş; Celik JB; Kandemir B; Aytekin G; Kapakli H; Yarar V; Yosunkaya A; Vatansev H; Aytekin C; Torun SH; Nepesov S; Coskuner T; Sözeri B; Demirkol YK; Kasapcopur O; Yıldız M; Sevketoglu E; Hatipoğlu N; Özçelik T; Yesilbas O; Gayretli Aydin ZG; Sediva A; Klocperk A; Bloomfield M; Meyts I; Delafontaine S; Haerynck F; Hoste L; Shahrooei M; Marque L; Neves JF; Novelli G; Novelli A; Aiuti A; Casari G; Bousfiha AA; Almuhsen SZ; Sobh A; Gagro A; Bajolle F; Bonnet D; Lebon P; Lei W; Lee D; Seeleuthner Y; Zhang P; Maglorius M; Philippot Q; Pelham S, 2021, 'SARS-CoV-2-related MIS-C: A key to the viral and genetic causes of Kawasaki disease?', Journal of Experimental Medicine, 218, http://dx.doi.org/10.1084/jem.20210446

Della Mina E; Guérin A; Tangye SG, 2021, 'Molecular requirements for human lymphopoiesis as defined by inborn errors of immunity', Stem Cells, 39, pp. 389 - 402, http://dx.doi.org/10.1002/stem.3327

Tangye SG; Al-Herz W; Bousfiha A; Cunningham-Rundles C; Franco JL; Holland SM; Klein C; Morio T; Oksenhendler E; Picard C; Puel A; Puck J; Seppänen MRJ; Somech R; Su HC; Sullivan KE; Torgerson TR; Meyts I, 2021, 'The Ever-Increasing Array of Novel Inborn Errors of Immunity: an Interim Update by the IUIS Committee', Journal of Clinical Immunology, 41, pp. 666 - 679, http://dx.doi.org/10.1007/s10875-021-00980-1

Meyts I; Bucciol G; Quinti I; Neven B; Fischer A; Seoane E; Lopez-Granados E; Gianelli C; Robles-Marhuenda A; Jeandel PY; Paillard C; Sankaran VG; Demirdag YY; Lougaris V; Aiuti A; Plebani A; Milito C; Dalm VA; Guevara-Hoyer K; Sánchez-Ramón S; Bezrodnik L; Barzaghi F; Gonzalez-Granado LI; Hayman GR; Uzel G; Mendonça LO; Agostini C; Spadaro G; Badolato R; Soresina A; Vermeulen F; Bosteels C; Lambrecht BN; Keller M; Mustillo PJ; Abraham RS; Gupta S; Ozen A; Karakoc-Aydiner E; Baris S; Freeman AF; Yamazaki-Nakashimada M; Scheffler-Mendoza S; Espinosa-Padilla S; Gennery AR; Jolles S; Espinosa Y; Poli MC; Fieschi C; Hauck F; Cunningham-Rundles C; Mahlaoui N; Warnatz K; Sullivan KE; Tangye SG, 2021, 'Coronavirus disease 2019 in patients with inborn errors of immunity: An international study', Journal of Allergy and Clinical Immunology, 147, pp. 520 - 531, http://dx.doi.org/10.1016/j.jaci.2020.09.010

Pillay BA; Fusaro M; Gray PE; Statham AL; Burnett L; Bezrodnik L; Kane A; Tong W; Abdo C; Winter S; Chevalier S; Levy R; Masson C; Schmitt Y; Bole C; Malphettes M; Macintyre E; de Villartay JP; Ziegler JB; Smart JM; Peake J; Aghamohammadi A; Hammarström L; Abolhassani H; Picard C; Fischer A; Latour S; Neven B; Tangye SG; Ma CS, 2021, 'Somatic reversion of pathogenic DOCK8 variants alters lymphocyte differentiation and function to effectively cure DOCK8 deficiency', Journal of Clinical Investigation, 131, http://dx.doi.org/10.1172/JCI142434

Bigas A; Zanoni I; Hepworth MR; Eisenbarth SC; Masters SL; Kipnis J; Vinuesa CG; Good-Jacobson KL; Tangye SG; Yamazaki S; Hivroz C; Wojno ET; Shulman Z; Colonna M, 2021, 'JEM career launchpad', Journal of Experimental Medicine, 218, http://dx.doi.org/10.1084/jem.20202509

Nguyen T; Deenick EK; Tangye SG, 2021, 'Phosphatidylinositol 3-kinase signaling and immune regulation: insights into disease pathogenesis and clinical implications', Expert Review of Clinical Immunology, 17, pp. 905 - 914, http://dx.doi.org/10.1080/1744666X.2021.1945443

Keller B; Strohmeier V; Harder I; Unger S; Payne KJ; Andrieux G; Boerries M; Felixberger PT; Landry JJM; Nieters A; Rensing-Ehl A; Salzer U; Frede N; Usadel S; Elling R; Speckmann C; Hainmann I; Ralph E; Gilmour K; Wentink MWJ; van der Burg M; Kuehn HS; Rosenzweig SD; Kölsch U; von Bernuth H; Kaiser-Labusch P; Gothe F; Hambleton S; Vlagea AD; Garcia AG; Alsina L; Markelj G; Avcin T; Vasconcelos J; Guedes M; Ding JY; Ku CL; Shadur B; Avery DT; Venhoff N; Thiel J; Becker H; Erazo-Borrás L; Trujillo-Vargas CM; Franco JL; Fieschi C; Okada S; Gray PE; Uzel G; Casanova JL; Fliegauf M; Grimbacher B; Eibel H; Ehl S; Voll RE; Rizzi M; Stepensky P; Benes V; Ma CS; Bossen C; Tangye SG; Warnatz K, 2021, 'The expansion of human T-bethighCD21low B cells is T cell dependent', Science Immunology, 6, http://dx.doi.org/10.1126/sciimmunol.abh0891

Yang R; Mele F; Worley L; Langlais D; Rosain J; Benhsaien I; Elarabi H; Croft CA; Doisne JM; Zhang P; Weisshaar M; Jarrossay D; Latorre D; Shen Y; Han J; Ogishi M; Gruber C; Markle J; Al Ali F; Rahman M; Khan T; Seeleuthner Y; Kerner G; Husquin LT; Maclsaac JL; Jeljeli M; Errami A; 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 JL, 2020, 'Human T-bet Governs Innate and Innate-like Adaptive IFN-γ Immunity against Mycobacteria', Cell, 183, pp. 1826 - 1847.e31, http://dx.doi.org/10.1016/j.cell.2020.10.046

Ghosh S; Bal SK; Edwards ESJ; Pillay B; Heredia RJ; Cipe FE; Rao G; Salzer E; Zoghi S; Abolhassani H; Momen T; Gostick E; Price DA; Zhang Y; Oler AJ; Gonzaga-Jauregui C; Erman B; Metin A; Ilhan I; Haskologlu S; Islamoglu C; Baskin K; Ceylaner S; Yilmaz E; Unal E; Karakukcu M; Berghuis D; Cole T; Gupta AK; Hauck F; Kogler H; Hoepelman AIM; Baris S; Karakoc-Aydiner E; Ozen A; Kager L; Holzinger D; Paulussen M; Krüger R; Meisel R; Oommen PT; Morris E; Neven B; Worth A; van Montfrans J; Fraaij PLA; Choo S; Dogu F; Graham Davies E; Burns S; Dückers G; Becker RP; von Bernuth H; Latour S; Faraci M; Gattorno M; Su HC; Pan-Hammarström Q; Hammarström L; Lenardo MJ; Ma CS; Niehues T; Aghamohammadi A; Rezaei N; Ikinciogullari A; Tangye SG; Lankester AC; Boztug K, 2020, 'Extended clinical and immunological phenotype and transplant outcome in CD27 and CD70 deficiency', Blood, 136, pp. 2638 - 2655, http://dx.doi.org/10.1182/BLOOD.2020006738

Lucas CL; Tangye SG, 2020, 'Editorial: Human Disorders of PI3K Biology', Frontiers in Immunology, 11, http://dx.doi.org/10.3389/fimmu.2020.617464

Tangye SG, 2020, 'It's that time of year—APRIL promotes humoral immunity in humans', Journal of Allergy and Clinical Immunology, 146, pp. 1013 - 1015, http://dx.doi.org/10.1016/j.jaci.2020.09.005

Bastard P; Rosen LB; Zhang Q; Michailidis E; Hoffmann HH; Zhang Y; Dorgham K; Philippot Q; Rosain J; Béziat V; Manry J; Shaw E; Haljasmägi L; Peterson P; Lorenzo L; Bizien L; Trouillet-Assant S; Dobbs K; de Jesus AA; Belot A; Kallaste A; Catherinot E; Tandjaoui-Lambiotte Y; Le Pen J; Kerner G; Bigio B; Seeleuthner Y; Yang R; Bolze A; Spaan AN; Delmonte OM; Abers MS; Aiuti A; Casari G; Lampasona V; Piemonti L; Ciceri F; Bilguvar K; Lifton RP; Vasse M; Smadja DM; Migaud M; Hadjadj J; Terrier B; Duffy D; Quintana-Murci L; van de Beek D; Roussel L; Vinh DC; Tangye SG; Haerynck F; Dalmau D; Martinez-Picado J; Brodin P; Nussenzweig MC; Boisson-Dupuis S; Rodríguez-Gallego C; Vogt G; Mogensen TH; Oler AJ; Gu J; Burbelo PD; Cohen JI; Biondi A; Bettini LR; DÁngio M; Bonfanti P; Rossignol P; Mayaux J; Rieux-Laucat F; Husebye ES; Fusco F; Ursini MV; Imberti L; Sottini A; Paghera S; Quiros-Roldan E; Rossi C; Castagnoli R; Montagna D; Licari A; Marseglia GL; Duval X; Ghosn J; Tsang JS; Goldbach-Mansky R; Kisand K; Lionakis MS; Puel A; Zhang SY; Holland SM; Gorochov G; Jouanguy E; Rice CM; Cobat A; Notarangelo LD; Abel L; Su HC; Casanova JL; Arias AA; Darley D; Matthews G, 2020, 'Autoantibodies against type I IFNs in patients with life-threatening COVID-19', Science, 370, pp. eabd4585, http://dx.doi.org/10.1126/science.abd4585

Zhang Q; Liu Z; Moncada-Velez M; Chen J; Ogishi M; Bigio B; Yang R; Arias AA; Zhou Q; Han JE; Ugurbil AC; Zhang P; Rapaport F; Li J; Spaan AN; Boisson B; Boisson-Dupuis S; Bustamante J; Puel A; Ciancanelli MJ; Zhang SY; Béziat V; Jouanguy E; Abel L; Cobat A; Casanova JL; Bastard P; Korol C; Rosain J; Philippot Q; Chbihi M; Lorenzo L; Bizien L; Neehus AL; Kerner G; Seeleuthner Y; Manry J; Le Voyer T; Zhang SY; Le Voyer T; Zhang SY; Le Pen J; Schneider WM; Razooky BS; Hoffmann HH; Michailidis E; Rice CM; Sabli IKD; Hodeib S; Sancho-Shimizu V; Bilguvar K; Ye J; Maniatis T; Bolze A; Arias AA; Arias AA; Zhang Y; Notarangelo LD; Su HC; Zhang Y; Onodi F; Korniotis S; Karpf L; Soumelis V; Bonnet-Madin L; Amara A; Dorgham K; Gorochov G; Smith N; Duffy D; Moens L; Meyts I; Meade P; Darley D; Tangye S; Matthews G, 2020, 'Inborn errors of type I IFN immunity in patients with life-threatening COVID-19', Science, 370, pp. eabd4570, http://dx.doi.org/10.1126/science.abd4570

Bedford JG; Heinlein M; Garnham AL; Nguyen THO; Loudovaris T; Ge C; Mannering SI; Elliott M; Tangye SG; Kedzierska K; Gray DHD; Heath WR; Wakim LM, 2020, 'Unresponsiveness to inhaled antigen is governed by conventional dendritic cells and overridden during infection by monocytes', Science Immunology, 5, http://dx.doi.org/10.1126/sciimmunol.abb5439

Kong XF; Worley L; Rinchai D; Bondet V; Jithesh PV; Goulet M; Nonnotte E; Rebillat AS; Conte M; Mircher C; Gürtler N; Liu L; Migaud M; Elanbari M; Habib T; Ma CS; Bustamante J; Abel L; Ravel A; Lyonnet S; Munnich A; Duffy D; Chaussabel D; Casanova JL; Tangye SG; Boisson-Dupuis S; Puel A, 2020, 'Three Copies of Four Interferon Receptor Genes Underlie a Mild Type I Interferonopathy in Down Syndrome', Journal of Clinical Immunology, 40, pp. 807 - 819, http://dx.doi.org/10.1007/s10875-020-00803-9

Béziat V; Tavernier SJ; Chen YH; Ma CS; Materna M; Laurence A; Staal J; Aschenbrenner D; Roels L; Worley L; Claes K; Gartner L; Kohn LA; de Bruyne M; Schmitz-Abe K; Charbonnier LM; Keles S; Nammour J; Vladikine N; Renkilaraj MRLM; Seeleuthner Y; Migaud M; Rosain J; Jeljeli M; Boisson B; van Braeckel E; Rosenfeld JA; Dai H; Burrage LC; Murdock DR; Lambrecht BN; Avettand-Fenoel V; Vogel TP; Network UD; Esther CR; Haskologlu S; Dogu F; Ciznar P; Boutboul D; Ouachée-Chardin M; Amourette J; Lebras MN; Gauvain C; Tcherakian C; Ikinciogullari A; Beyaert R; Abel L; Milner JD; Grimbacher B; Couderc LJ; Butte MJ; Freeman AF; Catherinot É; Fieschi C; Chatila TA; Tangye SG; Uhlig HH; Haerynck F; Casanova JL; Puel A, 2020, 'Erratum: Dominant-negative mutations in human IL6ST underlie hyper-IgE syndrome (J. Exp. Med. (2020) 217:6 Doi:10.1084/jem.20191804)', Journal of Experimental Medicine, 217, http://dx.doi.org/10.1084/jem.2019180405272020c

Yap JY; Gloss B; Batten M; Hsu P; Berglund L; Cai F; Dai P; Parker A; Qiu M; Miley W; Roshan R; Marshall V; Whitby D; Wegman E; Garsia R; Wu KHC; Kirk E; Polizzotto M; Deenick EK; Tangye SG; Ma CS; CIRCA ; Phan TG, 2020, 'Everolimus-Induced Remission of Classic Kaposi’s Sarcoma Secondary to Cryptic Splicing Mediated CTLA4 Haploinsufficiency', Journal of Clinical Immunology, 40, pp. 774 - 779, http://dx.doi.org/10.1007/s10875-020-00804-8

Phan TG; Gray PE; Wong M; Macintosh R; Burnett L; Tangye SG, 2020, 'The Clinical Immunogenomics Research Consortium Australasia (CIRCA): a Distributed Network Model for Genomic Healthcare Delivery', Journal of Clinical Immunology, 40, pp. 763 - 766, http://dx.doi.org/10.1007/s10875-020-00787-6

Casanova JL; Su HC; Abel L; Aiuti A; Almuhsen S; Arias AA; Bastard P; Biggs C; Bogunovic D; Boisson B; Boisson-Dupuis S; Bolze A; Bondarenko A; Bousfiha A; Brodin P; Bustamante J; Butte M; Casari G; Ciancanelli M; Cobat A; Condino-Neto A; Cooper M; Dalgard C; Espinosa S; Feldman H; Fellay J; Franco JL; Hagin D; Itan Y; Jouanguy E; Lucas C; Mansouri D; Meyts I; Milner J; Mogensen T; Morio T; Ng L; Notarangelo LD; Okada S; Ozcelik T; Palacín PS; Planas A; Prando C; Puel A; Pujol A; Redin C; Renia L; Rodriguez Gallego JC; Quintana-Murci L; Sancho-Shimizu V; Sankaran V; Seppänen MRJ; Shahrooei M; Snow A; Spaan A; Tangye S; Tur JP; Turvey S; Vinh DC; von Bernuth H; Wang X; Zawadzki P; Zhang Q; Zhang S, 2020, 'A Global Effort to Define the Human Genetics of Protective Immunity to SARS-CoV-2 Infection', Cell, 181, pp. 1194 - 1199, http://dx.doi.org/10.1016/j.cell.2020.05.016

Béziat V; Tavernier SJ; Chen YH; Ma CS; Materna M; Laurence A; Staal J; Aschenbrenner D; Roels L; Worley L; Claes K; Gartner L; Kohn LA; De Bruyne M; Schmitz-Abe K; Charbonnier LM; Keles S; Nammour J; Vladikine N; Renkilaraj MRLM; Seeleuthner Y; Migaud M; Rosain J; Jeljeli M; Boisson B; Van Braeckel E; Rosenfeld JA; Dai H; Burrage LC; Murdock DR; Lambrecht BN; Avettand-Fenoel V; Vogel TP; Esther CR; Haskologlu S; Dogu F; Ciznar P; Boutboul D; Ouachée-Chardin M; Amourette J; Lebras MN; Gauvain C; Tcherakian C; Ikinciogullari A; Beyaert R; Abel L; Milner JD; Grimbacher B; Couderc LJ; Butte MJ; Freeman AF; Catherinot É; Fieschi C; Chatila TA; Tangye SG; Uhlig HH; Haerynck F; Casanova JL; Puel A, 2020, 'Dominant-negative mutations in human IL6ST underlie hyper-IgE syndrome', Journal of Experimental Medicine, 217, http://dx.doi.org/10.1084/jem.20191804

Tangye SG, 2020, 'Genetic susceptibility to EBV infection: insights from inborn errors of immunity', Human Genetics, 139, pp. 885 - 901, http://dx.doi.org/10.1007/s00439-020-02145-3

Bucciol G; Pillay B; Casas-Martin J; Delafontaine S; Proesmans M; Lorent N; Coolen J; Tousseyn T; Bossuyt X; Ma CS; Schrijvers R; Tangye SG; Moens L; Meyts I, 2020, 'Systemic Inflammation and Myelofibrosis in a Patient with Takenouchi-Kosaki Syndrome due to CDC42 Tyr64Cys Mutation', Journal of Clinical Immunology, 40, pp. 567 - 570, http://dx.doi.org/10.1007/s10875-020-00742-5

Masle-Farquhar E; Payne K; Singh M; Rao G; Al-Eryani G; Jara C; Jackson K; Brink RA; Tangye S; Reed J; Goodnow CC, 2020, 'The effects of germline STAT3-activating mutations from autoimmunity and lymphoid malignancy on mouse and human T cells', The Journal of Immunology, 204, pp. 142.35 - 142.35, http://dx.doi.org/10.4049/jimmunol.204.supp.142.35

Fagbemi A; Newman WG; Tangye SG; Hughes SM; Arkwright PD; Cheesman E, 2020, 'Refractory very early-onset inflammatory bowel disease associated with cytosolic isoleucyl-tRNA synthetase deficiency: A case report', World Journal of Gastroenterology, 26, pp. 1841 - 1846, http://dx.doi.org/10.3748/WJG.V26.I15.1841

Tangye SG; Latour S, 2020, 'Primary immunodeficiencies reveal the molecular requirements for effective host defense against EBV infection', Blood, 135, pp. 644 - 655, http://dx.doi.org/10.1182/BLOOD.2019000928

Lau A; Avery DT; Jackson K; Lenthall H; Volpi S; Brigden H; Russell AJ; Bier J; Reed JH; Smart JM; Cole T; Choo S; Gray PE; Berglund LJ; Hsu P; Wong M; O'Sullivan M; Boztug K; Meyts I; Uzel G; Notarangelo LD; Brink R; Goodnow CC; Tangye SG; Deenick EK, 2020, 'Activated PI3Kd breaches multiple B cell tolerance checkpoints and causes autoantibody production', Journal of Experimental Medicine, 217, http://dx.doi.org/10.1084/jem_20191336

Klinken EM; Gray PE; Pillay B; Worley L; Edwards ESJ; Payne K; Bennetts B; Hung D; Wood BA; Chan JJ; Marshall GM; Mitchell R; Uzel G; Ma CS; Tangye SG; McLean-Tooke A, 2020, 'Diversity of XMEN Disease: Description of 2 Novel Variants and Analysis of the Lymphocyte Phenotype', Journal of Clinical Immunology, 40, pp. 299 - 309, http://dx.doi.org/10.1007/s10875-019-00732-2

Jouanguy E; Béziat V; Mogensen TH; Casanova JL; Tangye SG; Zhang SY, 2020, 'Human inborn errors of immunity to herpes viruses', Current Opinion in Immunology, 62, pp. 106 - 122, http://dx.doi.org/10.1016/j.coi.2020.01.004

Tangye SG; Al-Herz W; Bousfiha A; Chatila T; Cunningham-Rundles C; Etzioni A; Franco JL; Holland SM; Klein C; Morio T; Ochs HD; Oksenhendler E; Picard C; Puck J; Torgerson TR; Casanova JL; Sullivan KE, 2020, 'Correction to: Human Inborn Errors of Immunity: 2019 Update on the Classification from the International Union of Immunological Societies Expert Committee (Journal of Clinical Immunology, (2020), 40, 1, (24-64), 10.1007/s10875-019-00737-x)', Journal of Clinical Immunology, 40, pp. 65, http://dx.doi.org/10.1007/s10875-020-00763-0

Bousfiha A; Jeddane L; Picard C; Al-Herz W; Ailal F; Chatila T; Cunningham-Rundles C; Etzioni A; Franco JL; Holland SM; Klein C; Morio T; Ochs HD; Oksenhendler E; Puck J; Torgerson TR; Casanova JL; Sullivan KE; Tangye SG, 2020, 'Human Inborn Errors of Immunity: 2019 Update of the IUIS Phenotypical Classification', Journal of Clinical Immunology, 40, pp. 66 - 81, http://dx.doi.org/10.1007/s10875-020-00758-x

Tangye SG; Al-Herz W; Bousfiha A; Chatila T; Cunningham-Rundles C; Etzioni A; Franco JL; Holland SM; Klein C; Morio T; Ochs HD; Oksenhendler E; Picard C; Puck J; Torgerson TR; Casanova JL; Sullivan KE, 2020, 'Human Inborn Errors of Immunity: 2019 Update on the Classification from the International Union of Immunological Societies Expert Committee', Journal of Clinical Immunology, 40, pp. 24 - 64, http://dx.doi.org/10.1007/s10875-019-00737-x

Tangye SG; Ma CS, 2020, 'Regulation of the germinal center and humoral immunity by interleukin-21', Journal of Experimental Medicine, 217, http://dx.doi.org/10.1084/jem.20191638

French MA; Tangye SG, 2020, 'The next generation of diagnostic tests for primary immunodeficiency disorders', Journal of Infectious Diseases, 221, pp. 1232 - 1234, http://dx.doi.org/10.1093/infdis/jiz230


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