|
🐜
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Reduced-intensity conditioning and HLA-matched haemopoietic stem-cell transplantation in patients with chronic granulomatous disease: a prospective multicentre study
30 auth.
T. Güngör,
P. Teira,
M. Slatter,
G. Stussi,
P. Stepensky,
D. Moshous,
C. Vermont,
I. Ahmad,
Peter J Shaw,
José Marcos Telles da Cunha,
P. Schlegel,
R. Hough,
A. Fasth,
K. Kentouche,
B. Gruhn,
...
Juliana F Fernandes,
S. Lachance,
R. Bredius,
I. Resnick,
Bernd H. Belohradsky,
A. Gennery,
A. Fischer,
H. B. Gaspar,
U. Schanz,
R. Seger,
K. Rentsch,
P. Veys,
E. Haddad,
Michael H. Albert,
Moustapha Hassan
|
8 |
2014 |
8
🐜
|
|
🐜
|
The extended phenotype of LPS-responsive beige-like anchor protein (LRBA) deficiency.
22 auth.
Laura Gámez-Díaz,
D. August,
P. Stepensky,
S. Revel-Vilk,
M. Seidel,
Mitsuiki Noriko,
T. Morio,
A. Worth,
J. Blessing,
F. L. van de Veerdonk,
...
T. Feuchtinger,
M. Kanariou,
A. Schmitt-Graeff,
Sophie Jung,
S. Seneviratne,
S. Burns,
B. Belohradsky,
N. Rezaei,
S. Bakhtiar,
C. Speckmann,
M. Jordan,
B. Grimbacher
|
7 |
2016 |
7
🐜
|
|
🐜
|
Update on the safety and efficacy of retroviral gene therapy for immunodeficiency due to adenosine deaminase deficiency.
25 auth.
M. Cicalese,
F. Ferrua,
L. Castagnaro,
R. Pajno,
F. Barzaghi,
S. Giannelli,
F. Dionisio,
I. Brigida,
Marco Bonopane,
Miriam Casiraghi,
A. Tabucchi,
F. Carlucci,
E. Grunebaum,
M. Adeli,
R. Bredius,
...
J. Puck,
P. Stepensky,
I. Tezcan,
K. Rolfe,
E. D. De Boever,
R. Reinhardt,
J. Appleby,
F. Ciceri,
M. Roncarolo,
A. Aiuti
|
7 |
2016 |
7
🐜
|
|
🦁
|
Deficiency of caspase recruitment domain family, member 11 (CARD11), causes profound combined immunodeficiency in human subjects.
15 auth.
P. Stepensky,
Baerbel Keller,
Mary Buchta,
Anne-Kathrin Kienzler,
O. Elpeleg,
R. Somech,
Sivan Cohen,
I. Shachar,
L. Miosge,
M. Schlesier,
...
Ilka Fuchs,
A. Enders,
H. Eibel,
B. Grimbacher,
K. Warnatz
|
7 |
2013 |
7
🦁
|
|
🐜
|
Monogenic mutations differentially affect the quantity and quality of T follicular helper cells in patients with human primary immunodeficiencies.
50 auth.
Cindy S. Ma,
Natalie Wong,
Geetha Rao,
D. Avery,
J. Torpy,
Thomas Hambridge,
J. Bustamante,
S. Okada,
J. Stoddard,
E. Deenick,
Simon J. Pelham,
Kathryn J. Payne,
S. Boisson-Dupuis,
A. Puel,
Masao Kobayashi,
...
P. Arkwright,
S. Kilic,
J. El Baghdadi,
S. Nonoyama,
Y. Minegishi,
S. Mahdaviani,
D. Mansouri,
A. Bousfiha,
Annaliesse Blincoe,
M. French,
P. Hsu,
D. Campbell,
M. Stormon,
M. Wong,
S. Adelstein,
Joanne M. Smart,
D. Fulcher,
M. Cook,
T. Phan,
P. Stepensky,
K. Boztug,
A. Kansu,
A. Ikinciogulları,
U. Baumann,
R. Beier,
T. Roscioli,
J. Ziegler,
Paul E A Gray,
C. Picard,
B. Grimbacher,
K. Warnatz,
S. Holland,
J. Casanova,
G. Uzel,
S. Tangye
|
7 |
2015 |
7
🐜
|
|
🐜
|
The syndrome of hemophagocytic lymphohistiocytosis in primary immunodeficiencies: implications for differential diagnosis and pathogenesis
33 auth.
Sebastian F. N. Bode,
S. Ammann,
W. Al-Herz,
M. Bataneant,
C. Dvorak,
S. Gehring,
A. Gennery,
K. Gilmour,
L. González-Granado,
U. Gross-Wieltsch,
M. Ifversen,
Jenny Lingman-Framme,
S. Matthes‐Martin,
R. Mesters,
I. Meyts,
...
J. V. van Montfrans,
J. P. Schmid,
S. Pai,
P. Soler-Palacín,
U. Schuermann,
V. Schuster,
M. Seidel,
C. Speckmann,
P. Stepensky,
K. Sykora,
B. Tesi,
T. Vraetz,
C. Waruiru,
Y. Bryceson,
D. Moshous,
K. Lehmberg,
M. Jordan,
S. Ehl
|
7 |
2015 |
7
🐜
|
|
🐜
|
Germline ETV6 Mutations Confer Susceptibility to Acute Lymphoblastic Leukemia and Thrombocytopenia
32 auth.
S. Topka,
J. Vijai,
M. Walsh,
Lauren M. Jacobs,
Ann Maria,
D. Villano,
Pragna Gaddam,
Gang Wu,
R. McGee,
Emily A Quinn,
H. Inaba,
C. Hartford,
C. Pui,
A. Pappo,
Michael N. Edmonson,
...
Michael Y. Zhang,
P. Stepensky,
P. Steinherz,
K. Schrader,
Anne Lincoln,
J. Bussel,
S. Lipkin,
Y. Goldgur,
M. Harit,
Z. Stadler,
C. Mullighan,
M. Weintraub,
A. Shimamura,
Jinghui Zhang,
J. Downing,
K. Nichols,
K. Offit
|
7 |
2015 |
7
🐜
|
|
🐜
|
Treatment of severe steroid resistant acute GVHD with mesenchymal stromal cells (MSC).
15 auth.
I. Resnick,
C. Barkats,
M. Shapira,
P. Stepensky,
A. Bloom,
A. Shimoni,
D. Mankuta,
N. Varda‐Bloom,
L. Rheingold,
M. Yeshurun,
...
B. Bielorai,
A. Toren,
T. Zuckerman,
A. Nagler,
R. Or
|
6 |
2013 |
6
🐜
|
|
🐜
|
Loss-of-function mutations within the IL-2 inducible kinase ITK in patients with EBV-associated lymphoproliferative diseases
25 auth.
R. M. Linka,
Sarah L. Risse,
K. Bienemann,
M. Werner,
Y. Linka,
F. Krux,
Cindy Synaeve,
R. Deenen,
S. Ginzel,
R. Dvorsky,
M. Gombert,
A. Halenius,
Roland Hartig,
Mika Helminen,
Aude Fischer,
...
P. Stepensky,
Kim Vettenranta,
Karl Köhrer,
M. Ahmadian,
Hans-Jürgen Laws,
Bernhard Fleckenstein,
Hassan Jumaa,
Sylvain Latour,
B. Schraven,
Arndt Borkhardt
|
6 |
2012 |
6
🐜
|
|
🐜
|
The CARD11-BCL10-MALT1 (CBM) signalosome complex: Stepping into the limelight of human primary immunodeficiency.
16 auth.
S. Turvey,
A. Durandy,
A. Fischer,
S. Fung,
R. Geha,
A. Gewies,
T. Giese,
J. Greil,
B. Keller,
M. McKinnon,
...
B. Neven,
J. Rozmus,
J. Ruland,
A. Snow,
P. Stepensky,
K. Warnatz
|
6 |
2014 |
6
🐜
|
