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Activating PIK3CD mutations impair human cytotoxic lymphocyte differentiation and function and EBV immunity
18 auth.
E. Edwards,
Julia Bier,
T. Cole,
M. Wong,
P. Hsu,
L. Berglund,
K. Boztug,
A. Lau,
E. Gostick,
D. Price,
...
Michael O’Sullivan,
I. Meyts,
S. Choo,
Paul E A Gray,
S. Holland,
E. Deenick,
G. Uzel,
S. Tangye
|
6 |
2019 |
6
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|
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Germline-activating mutations in PIK3CD compromise B cell development and function
34 auth.
D. Avery,
A. Kane,
T. Nguyen,
A. Lau,
A. Nguyen,
Helen Lenthall,
Kathryn J. Payne,
Wei Shi,
Henry Brigden,
E. French,
Julia Bier,
Jana R. Hermes,
D. Zahra,
W. Sewell,
Danyal Butt,
...
Michael Elliott,
K. Boztug,
I. Meyts,
S. Choo,
P. Hsu,
M. Wong,
L. Berglund,
P. Gray,
Michael O’Sullivan,
T. Cole,
S. Holland,
Cindy S. Ma,
C. Burkhart,
L. Corcoran,
T. Phan,
R. Brink,
G. Uzel,
E. Deenick,
S. Tangye
|
6 |
2018 |
6
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|
|
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Monogenic Early-Onset Lymphoproliferation and Autoimmunity: The Natural History of STAT3 GOF Syndrome.
225 auth.
J. Leiding,
T. Vogel,
Valentine G.J. Santarlas,
R. Mhaskar,
Madison R. Smith,
Alexandre F. Carisey,
A. Vargas‐Hernández,
Manuel Silva-Carmona,
Maximilian Heeg,
A. Rensing-Ehl,
B. Neven,
J. Hadjadj,
S. Hambleton,
T. Leahy,
M. V. van Hagen,
...
C. Cunningham-Rundles,
C. Dutmer,
S. Sharapova,
M. Taskinen,
I. Chua,
R. Hague,
C. Klemann,
L. Kostyuchenko,
T. Morio,
A. Thatayatikom,
A. Ozen,
A. Scherbina,
C. Bauer,
S. Flanagan,
E. Gambineri,
L. Giovannini-Chami,
J. Heimall,
K. Sullivan,
E. Allenspach,
N. Romberg,
S. Deane,
B. Prince,
M. Rose,
J. Bohnsack,
T. Mousallem,
Rohith Jesudas,
M. M. dos Santos Vilela,
Michael O’Sullivan,
J. P. Schmid,
Š. Průhová,
M. Rees,
H. Su,
S. Bahna,
S. Barış,
L. Bartnikas,
Amy Chang Berger,
T. Briggs,
S. Brothers,
V. Bundy,
Alice Y. Chan,
S. Chandrakasan,
Mette Christiansen,
T. Cole,
M. Cook,
M. Desai,
Ute Fischer,
D. Fulcher,
Silvanna Gallo,
A. Gauthier,
A. Gennery,
J. Marques,
F. Gottrand,
B. Grimbacher,
E. Grunebaum,
E. Haapaniemi,
S. Hämäläinen,
K. Heiskanen,
T. Heiskanen-Kosma,
H. Hoffman,
L. González-Granado,
A. L. Guerreiro,
L. Kainulainen,
Ashish Kumar,
M. Lawrence,
C. Levin,
T. Martelius,
O. Neth,
P. Olbrich,
Alejandro M. Palma,
N. Patel,
T. Pozos,
K. Preece,
S. L. Lugo Reyes,
M. A. Russell,
Y. Schejter,
C. Seroogy,
J. Sinclair,
Effie Skevofilax,
Dan Suan,
Daniel Suegeorgz,
P. Szabolcs,
H. Velasco,
K. Warnatz,
K. Walkovich,
A. Worth,
M. Seppänen,
T. Torgerson,
G. Sogkas,
S. Ehl,
S. Tangye,
M. Cooper,
J. Milner,
L. F. Forbes Satter,
S. Aleshkevich,
L. Allende,
T. Atkinson,
F. Atschekzei,
Sezin Aydemir,
Utku Aygunes,
V. Barlogis,
U. Baumann,
J. Belko,
L. Bezrodnik,
A. Biebl,
L. Broderick,
N. Bunin,
M. S. Caldirola,
M. Castelle,
F. Çelmeli,
L. Charbonnier,
T. Chatila,
Deepak Chellapandian,
H. Çokuğraş,
N. Conlon,
F. Cox,
E. Crickx,
B. Dalgıç,
Virgil A. S. H. Dalm,
S. Danielián,
N. Domínguez-Pinilla,
Tal Dujovny,
M. Ebbo,
A. Eken,
Brittany Esty,
A. Fabre,
Alain Fischer,
M. Hannibal,
Laura Huppert,
Marc D. Ikeda,
S. Jolles,
Kent W. Jolly,
N. Jones,
Musa Kakakukcu,
M. Kanariou,
E. Karakoc‐Aydiner,
Theoni Karamantziani,
C. Kelaidi,
M. Keogan,
A. Kısaarslan,
A. Kıykım,
A. Klocperk,
K. Kotsonis,
N. Kuzmenko,
S. Leroy,
Harry Lesmana,
Dimitra Lianou,
H. Longhurst,
M. Lorenz,
Patrick Maffucci,
A. Manson,
S. Marchal,
M. Malphettes,
L. F. Marega,
A. Mauracher,
Kornvalee Meesilpavikai,
H. Miller,
Joy Mombourquette,
N. Morgan,
A. Mukhina,
Aladjidi Nathalie,
B. Nelken,
D. Nolan,
A. Norlin,
M. Oleastro,
Alper Ozcan,
M. Pasquet,
J. R. Pegler,
C. Picard,
S. Polychronopoulou,
P. Quartier,
J. Ramakers,
Katrina L. Randall,
V. K. Rao,
Allison Remiker,
Géraldine Resin,
P. Richmond,
F. Rieux-Laucat,
Yulia Rodina,
P. Rohrlich,
J. Sachs,
I. Sakovich,
Christopher Santarlas,
S. Sarı,
G. Sawicki,
Uwe Schauer,
Selma C. Scheffler Mendoza,
Oksana Schvetz,
Reinhold E. Schmidt,
K. Schwarz,
A. Šedivá,
Kyle Sinclair,
M. Slatter,
J. Sleasman,
Katerina Stergiou,
Narissara Suratannon,
K. Tanita,
Grace Thompson,
Stephen Travis,
T. Trojan,
M. Tsinti,
E. Unal,
Luciano Urdinez,
Felisa Vázquez-Gómez,
Mariana Villa,
M. Weinrich,
M. Weiss,
B. Wright,
Ebru Yılmaz,
R. Zachová,
J. F. Quesada
|
5 |
2022 |
5
🐜
|
|
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|
Activating mutations in PIK3CD disrupt the differentiation and function of human and murine CD4+ T cells.
28 auth.
Julia Bier,
Geetha Rao,
Kathryn J. Payne,
Henry Brigden,
E. French,
Simon J. Pelham,
A. Lau,
Helen Lenthall,
E. Edwards,
Joanne M. Smart,
T. Cole,
S. Choo,
A. Joshi,
R. Abraham,
Michael O’Sullivan,
...
K. Boztug,
I. Meyts,
P. Gray,
L. Berglund,
P. Hsu,
M. Wong,
S. Holland,
L. Notarangelo,
G. Uzel,
Cindy S. Ma,
R. Brink,
S. Tangye,
E. Deenick
|
5 |
2019 |
5
🐜
|
|
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|
STAT3 gain-of-function mutations connect leukemia with autoimmune disease by pathological NKG2Dhi CD8+ T cell dysregulation and accumulation.
31 auth.
Etienne Masle-Farquhar,
Katherine J. L. Jackson,
Timothy J. Peters,
G. Al-Eryani,
Mandeep Singh,
Kathryn J. Payne,
Geetha Rao,
D. Avery,
Gabrielle Apps,
J. Kingham,
Christopher J Jara,
Ksenia Skvortsova,
A. Swarbrick,
Cindy S. Ma,
Dan Suan,
...
G. Uzel,
I. Chua,
J. Leiding,
K. Heiskanen,
K. Preece,
L. Kainulainen,
Michael O’Sullivan,
M. Cooper,
M. Seppänen,
S. Mustjoki,
S. Brothers,
T. Vogel,
R. Brink,
S. Tangye,
J. Reed,
C. Goodnow
|
5 |
2022 |
5
🐜
|
|
🐜
|
Activated PI3Kδ breaches multiple B cell tolerance checkpoints and causes autoantibody production
25 auth.
A. Lau,
D. Avery,
Katherine J. L. Jackson,
Helen Lenthall,
S. Volpi,
Henry Brigden,
A. Russell,
Julia Bier,
J. Reed,
Joanne M. Smart,
T. Cole,
S. Choo,
P. Gray,
L. Berglund,
P. Hsu,
...
M. Wong,
Michael O’Sullivan,
K. Boztug,
I. Meyts,
G. Uzel,
L. Notarangelo,
R. Brink,
C. Goodnow,
S. Tangye,
E. Deenick
|
5 |
2019 |
5
🐜
|
|
🐜
|
The utility of plasma circulating cell-free messenger RNA as a biomarker of glioma: a pilot study
9 auth.
M. Ita,
Jiang-huai Wang,
A. Toulouse,
Chris Lim,
N. Fanning,
Michael O’Sullivan,
...
Y. Nolan,
G. Kaar,
H. Redmond
|
3 |
2021 |
3
🐜
|
|
🐜
|
A Novel Targeted Amplicon Next-Generation Sequencing Gene Panel for the Diagnosis of Common Variable Immunodeficiency Has a High Diagnostic Yield: Results from the Perth CVID Cohort Study.
14 auth.
W. Kermode,
D. de Santis,
L. Truong,
E. Della Mina,
S. Salman,
Grace Thompson,
D. Nolan,
R. Loh,
Dominic Mallon,
A. Mclean-Tooke,
...
M. John,
S. Tangye,
Michael O’Sullivan,
L. D'Orsogna
|
2 |
2022 |
2
🐜
|
