Garvan Institute of Medical Research

Humans with inherited T cell CD28 deficiency are susceptible to skin papillomaviruses but are otherwise healthy

Beziat, V.; Rapaport, F.; Hu, J.; Titeux, M.; Bonnet des Claustres, M.; Bourgey, M.; Griffin, H.; Bandet, E.; Ma, C. S.; Sherkat, R.; Rokni-Zadeh, H.; Louis, D. M.; Changi-Ashtiani, M.; Delmonte, O. M.; 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, M. A.; Leruez-Ville, M.; Guenat, D.; Materna, M.; Marcot, L.; Vladikine, N.; Soret, C.; Vahidnezhad, H.; Youssefian, L.; Saeidian, A. H.; Uitto, J.; Catherinot, E.; Navabi, S. S.; Zarhrate, M.; Woodley, D. T.; Jeljeli, M.; Abraham, T.; Belkaya, S.; Lorenzo, L.; Rosain, J.; Bayat, M.; Lanternier, F.; Lortholary, O.; Zakavi, F.; Gros, P.; Orth, G.; Abel, L.; Pretet, J. L.; Fraitag, S.; Jouanguy, E.; Davis, M. M.; Tangye, S. G.; Notarangelo, L. D.; Marr, N.; Waterboer, T.; Langlais, D.; Doorbar, J.; Hovnanian, A.; Christensen, N.; Bossuyt, X.; Shahrooei, M.; Casanova, J. L.

CELL 184 (14) :3812-3828 e30, 2021 10.1016/j.cell.2021.06.004

High Th2 cytokine levels and upper airway inflammation in human inherited T-bet deficiency

Yang, R.; Weisshaar, M.; Mele, F.; Benhsaien, I.; Dorgham, K.; Han, J.; Croft, C. A.; Notarbartolo, S.; Rosain, J.; Bastard, P.; Puel, A.; Fleckenstein, B.; Glimcher, L. H.; Di Santo, J. P.; Ma, C. S.; Gorochov, G.; Bousfiha, A.; Abel, L.; Tangye, S. G.; Casanova, J. L.; Bustamante, J.; Sallusto, F.

JOURNAL OF EXPERIMENTAL MEDICINE 218 (8) :e20202726, 2021 10.1084/jem.20202726

Sancho-Shimizu, V.; Brodin, P.; Cobat, A.; Biggs, C.M.; Toubiana, J.; Lucas, C.L.; Henrickson, S.E.; Belot, A.; Tangye, S.G.; Milner, J.D.; Levin, M.; Abel, L.; Bogunovic, D.; Casanova, J.L.; Zhang, S.Y.

JOURNAL OF EXPERIMENTAL MEDICINE 218 (6) 2021 10.1084/jem.20210446

CD8(+) T cell landscape in Indigenous and non-Indigenous people restricted by influenza mortality-associated HLA-A*24:02 allomorph

Hensen, L.; Illing, P. T.; Bridie Clemens, E.; Nguyen, T. H. O.; Koutsakos, M.; van de Sandt, C. E.; Mifsud, N. A. Nguyen, A. T.; Szeto, C.; Chua, B. Y.; Halim, H.; Rizzetto, S.; Luciani, F.; Loh, L.; Grant, E. J.; Saunders, P. M.; Brooks, A. G.; Rockman, S.; Kotsimbos, T. C.; Cheng, A. C.; Richards, M.; Westall, G. P.; Wakim, L. M.; Loudovaris, T.; Mannering, S. I.; Elliott, M.; Tangye, S. G.; Jackson, D. C.; Flanagan, K. L.; Rossjohn, J.; Gras, S.; Davies, J.; Miller, A.; Tong, S. Y. C.; Purcell, A. W.; Kedzierska, K.

Nature Communications 12 (1) :2931, 2021 10.1038/s41467-021-23212-x

Molecular requirements for human lymphopoiesis as defined by inborn errors of immunity

Della Mina, E., Guerin, A., Tangye, S. G.

STEM CELLS 39 (4) :389-402, 2021 10.1002/stem.3327

The Ever-Increasing Array of Novel Inborn Errors of Immunity: an Interim Update by the IUIS Committee

Tangye, S. G.; Al-Herz, W.; Bousfiha, A.; Cunningham-Rundles, C.; Franco, J. L.; Holland, S. M.; Klein, C.; Morio, T.; Oksenhendler, E.; Picard, C.; Puel, A.; Puck, J.; Seppanen, M. R. J.; Somech, R.; Su, H. C.; Sullivan, K. E.; Torgerson, T. R.; Meyts, I.

JOURNAL OF CLINICAL IMMUNOLOGY 41 (3) :666-679, 2021 10.1007/s10875-021-00980-1

Coronavirus disease 2019 in patients with inborn errors of immunity: An international study

Meyts, I. Bucciol, G. Quinti, I. Neven, B. Fischer, A. Seoane, E. Lopez-Granados, E. Gianelli, C. Robles-Marhuenda, A. Jeandel, P. Y. Paillard, C. Sankaran, V. G. Demirdag, Y. Y. Lougaris, V. Aiuti, A. Plebani, A. Milito, C. Dalm, V. A. Guevara-Hoyer, K. Sanchez-Ramon, S. Bezrodnik, L. Barzaghi, F. Gonzalez-Granado, L. I. Hayman, G. R. Uzel, G. Mendonca, L. O. Agostini, C. Spadaro, G. Badolato, R. Soresina, A. Vermeulen, F. Bosteels, C. Lambrecht, B. N. Keller, M. Mustillo, P. J. Abraham, R. S. Gupta, S. Ozen, A. Karakoc-Aydiner, E. Baris, S. Freeman, A. F. Yamazaki-Nakashimada, M. Scheffler-Mendoza, S. Espinosa-Padilla, S. Gennery, A. R. Jolles, S. Espinosa, Y. Poli, M. C. Fieschi, C. Hauck, F. Cunningham-Rundles, C. Mahlaoui, N. Iuis Committee of Inborn Errors of Immunity Warnatz, K. Sullivan, K. E. Tangye, S. G.

JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY 147 (2) :520.531, 2021 10.1016/j.jaci.2020.09.010

Somatic reversion of pathogenic DOCK8 variants alters lymphocyte differentiation and function to effectively cure DOCK8 deficiency

Pillay, B. A.; Fusaro, M.; Gray, P. E.; Statham, A. L.; 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, J. P.; Ziegler, J. B.; Smart, J. M.; Peake, J.; Aghamohammadi, A.; Hammarstrom, L.; Abolhassani, H.; Picard, C.; Fischer, A.; Latour, S.; Neven, B.; Tangye, S. G.; Ma, C. S.

Journal of Genetic Counseling 131 (3) 2021 10.1172/JCI142434

Coronavirus disease 2019 in patients with inborn errors of immunity: An international study

Meyts, I.; Bucciol, G.; Quinti, I.; Neven, B.; Fischer, A.; Seoane, E.; Lopez-Granados, E.; Gianelli, C.; Robles-Marhuenda, A.; Jeandel, P. Y.; Paillard, C.; Sankaran, V. G.; Demirdag, Y. Y.; Lougaris, V.; Aiuti, A.; Plebani, A.; Milito, C.; Dalm, V. A.; Guevara-Hoyer, K.; Sanchez-Ramon, S.; Bezrodnik, L.; Barzaghi, F.; Gonzalez-Granado, L. I.; Hayman, G. R.; Uzel, G.; Mendonca, L. O.; Agostini, C.; Spadaro, G.; Badolato, R.; Soresina, A.; Vermeulen, F.; Bosteels, C.; Lambrecht, B. N.; Keller, M.; Mustillo, P. J.; Abraham, R. S.; Gupta, S.; Ozen, A.; Karakoc-Aydiner, E.; Baris, S.; Freeman, A. F.; Yamazaki-Nakashimada, M.; Scheffler-Mendoza, S.; Espinosa-Padilla, S.; Gennery, A. R.; Jolles, S.; Espinosa, Y.; Poli, M. C.; Fieschi, C.; Hauck, F.; Cunningham-Rundles, C.; Mahlaoui, N.; Immunity, Iuis Committee of Inborn Errors of; Warnatz, K.; Sullivan, K. E.; Tangye, S. G.

JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY 147 (2) :520-531, 2021 10.1016/j.jaci.2020.09.010

Unresponsiveness to inhaled antigen is governed by conventional dendritic cells and overridden during infection by monocytes

Bedford, J. G.; Heinlein, M.; Garnham, A. L.; Nguyen, T. H. O.; Loudovaris, T.; Ge, C.; Mannering, S. I.; Elliott, M.; Tangye, S. G.; Kedzierska, K.; Gray, D. H. D.; Heath, W. R.; Wakim, L. M.

Science Immunology 5 (52) :eabb5439, 2020 10.1126/sciimmunol.abb5439

Refractory very early-onset inflammatory bowel disease associated with cytosolic isoleucyl-tRNA synthetase deficiency: A case report

Fagbemi, A.; Newman, W. G.; Tangye, S. G.; Hughes, S. M.; Cheesman, E.; Arkwright, P. D.

WORLD JOURNAL OF GASTROENTEROLOGY 26 (15) :1841-1846, 2020 10.3748/wjg.v26.i15.1841

The Next Generation of Diagnostic Tests for Primary Immunodeficiency Disorders

French, M. A.; Tangye, S. G.

JOURNAL OF INFECTIOUS DISEASES 221 (8) :1232-1234, 2020 10.1093/infdis/jiz230

Genetic susceptibility to EBV infection: insights from inborn errors of immunity

Tangye, S.G.

HUMAN GENETICS 139 (6-7) :885-901, 2020 https://doi.org/10.1007/s00439-020-02145-3

Diversity of XMEN Disease: Description of 2 Novel Variants and Analysis of the Lymphocyte Phenotype

Klinken, E. M.; Gray, P. E.; Pillay, B.; Worley, L.; Edwards, E. S. J.; Payne, K.; Bennetts, B.; Hung, D.; Wood, B. A.; Chan, J. J.; Marshall, G. M.; Mitchell, R.; Uzel, G.; Ma, C. S.; Tangye, S. G.; McLean-Tooke, A.

JOURNAL OF CLINICAL IMMUNOLOGY 40 (2) :299-309, 2020 10.1007/s10875-019-00732-2

Primary immunodeficiencies reveal the molecular requirements for effective host defense against EBV infection.

Tangye, S.G.; Latour, S.

BLOOD 135 (9) :644-655, 2020 https://doi.org/10.1182/blood.2019000928

Activated PI3Kdelta breaches multiple B cell tolerance checkpoints and causes autoantibody production

Lau, A.; Avery, D. T.; Jackson, K.; Lenthall, H.; Volpi, S.; Brigden, H.; Russell, A. J.; Bier, J.; Reed, J. H.; Smart, J. M.; Cole, T.; Choo, S.; Gray, P. E.; Berglund, L. J.; Hsu, P.; Wong, M.; O'Sullivan, M.; Boztug, K.; Meyts, I.; Uzel, G.; Notarangelo, L. D.; Brink, R.; Goodnow, C. C.; Tangye, S. G.; Deenick, E. K.

JOURNAL OF EXPERIMENTAL MEDICINE 217 (2) :e20191336, 2020 10.1084/jem.20191336