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From Natural Killer Cell Receptor Discovery to Characterization of Natural Killer Cell Defects in Primary Immunodeficiencies. [electronic resource] by
- Tabellini, Giovanna
- Patrizi, Ornella
- Dobbs, Kerry
- Lougaris, Vassilios
- Baronio, Manuela
- Coltrini, Daniela
- Plebani, Alessandro
- Badolato, Raffaele
- Notarangelo, Luigi D
- Parolini, Silvia
Producer: 20201014
In:
Frontiers in immunology vol. 10
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3.
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Ligase-4 Deficiency Causes Distinctive Immune Abnormalities in Asymptomatic Individuals. [electronic resource] by
- Felgentreff, Kerstin
- Baxi, Sachin N
- Lee, Yu Nee
- Dobbs, Kerry
- Henderson, Lauren A
- Csomos, Krisztian
- Tsitsikov, Erdyni N
- Armanios, Mary
- Walter, Jolan E
- Notarangelo, Luigi D
Producer: 20171018
In:
Journal of clinical immunology vol. 36
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4.
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Architecture of the human PI4KIIIα lipid kinase complex. [electronic resource] by
- Lees, Joshua A
- Zhang, Yixiao
- Oh, Michael S
- Schauder, Curtis M
- Yu, Xiaoling
- Baskin, Jeremy M
- Dobbs, Kerry
- Notarangelo, Luigi D
- De Camilli, Pietro
- Walz, Thomas
- Reinisch, Karin M
Producer: 20180709
In:
Proceedings of the National Academy of Sciences of the United States of America vol. 114
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5.
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Adult-Onset Myopathy in a Patient with Hypomorphic RAG2 Mutations and Combined Immune Deficiency. [electronic resource] by
- Henrickson, Sarah E
- Walter, Jolan E
- Quinn, Colin
- Kanakry, Jennifer A
- Bardakjian, Tanya
- Dimitrova, Dimana
- Ujhazi, Boglarka
- Csomos, Krisztian
- Bosticardo, Marita
- Dobbs, Kerry
- Nasrallah, MacLean
- Notarangelo, Luigi D
- Holland, Steven M
- Fadugba, Olajumoke
Producer: 20190930
In:
Journal of clinical immunology vol. 38
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6.
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A novel mutation in the POLE2 gene causing combined immunodeficiency. [electronic resource] by
- Frugoni, Francesco
- Dobbs, Kerry
- Felgentreff, Kerstin
- Aldhekri, Hasan
- Al Saud, Bandar K
- Arnaout, Rand
- Ali, Afshan Ashraf
- Abhyankar, Avinash
- Alroqi, Fayhan
- Giliani, Silvia
- Ojeda, Mayra Martinez
- Tsitsikov, Erdyni
- Pai, Sung-Yun
- Casanova, Jean Laurent
- Notarangelo, Luigi D
- Manis, John P
Producer: 20160630
In:
The Journal of allergy and clinical immunology vol. 137
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7.
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Differential role of nonhomologous end joining factors in the generation, DNA damage response, and myeloid differentiation of human induced pluripotent stem cells. [electronic resource] by
- Felgentreff, Kerstin
- Du, Likun
- Weinacht, Katja G
- Dobbs, Kerry
- Bartish, Margarita
- Giliani, Silvia
- Schlaeger, Thorsten
- DeVine, Alexander
- Schambach, Axel
- Woodbine, Lisa J
- Davies, Graham
- Baxi, Sachin N
- van der Burg, Mirjam
- Bleesing, Jack
- Gennery, Andrew
- Manis, John
- Pan-Hammarström, Qiang
- Notarangelo, Luigi D
Producer: 20140912
In:
Proceedings of the National Academy of Sciences of the United States of America vol. 111
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8.
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Efficacy of lentivirus-mediated gene therapy in an Omenn syndrome recombination-activating gene 2 mouse model is not hindered by inflammation and immune dysregulation. [electronic resource] by
- Capo, Valentina
- Castiello, Maria Carmina
- Fontana, Elena
- Penna, Sara
- Bosticardo, Marita
- Draghici, Elena
- Poliani, Luigi P
- Sergi Sergi, Lucia
- Rigoni, Rosita
- Cassani, Barbara
- Zanussi, Monica
- Carrera, Paola
- Uva, Paolo
- Dobbs, Kerry
- Sacchetti, Nicolò
- Notarangelo, Luigi D
- van Til, Niek P
- Wagemaker, Gerard
- Villa, Anna
Producer: 20191014
In:
The Journal of allergy and clinical immunology vol. 142
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Reticular dysgenesis-associated AK2 protects hematopoietic stem and progenitor cell development from oxidative stress. [electronic resource] by
- Rissone, Alberto
- Weinacht, Katja Gabriele
- la Marca, Giancarlo
- Bishop, Kevin
- Giocaliere, Elisa
- Jagadeesh, Jayashree
- Felgentreff, Kerstin
- Dobbs, Kerry
- Al-Herz, Waleed
- Jones, Marypat
- Chandrasekharappa, Settara
- Kirby, Martha
- Wincovitch, Stephen
- Simon, Karen Lyn
- Itan, Yuval
- DeVine, Alex
- Schlaeger, Thorsten
- Schambach, Axel
- Sood, Raman
- Notarangelo, Luigi D
- Candotti, Fabio
Producer: 20151026
In:
The Journal of experimental medicine vol. 212
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10.
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Human HOIP and LUBAC deficiency underlies autoinflammation, immunodeficiency, amylopectinosis, and lymphangiectasia. [electronic resource] by
- Boisson, Bertrand
- Laplantine, Emmanuel
- Dobbs, Kerry
- Cobat, Aurélie
- Tarantino, Nadine
- Hazen, Melissa
- Lidov, Hart G W
- Hopkins, Gregory
- Du, Likun
- Belkadi, Aziz
- Chrabieh, Maya
- Itan, Yuval
- Picard, Capucine
- Fournet, Jean-Christophe
- Eibel, Hermann
- Tsitsikov, Erdyni
- Pai, Sung-Yun
- Abel, Laurent
- Al-Herz, Waleed
- Casanova, Jean-Laurent
- Israel, Alain
- Notarangelo, Luigi D
Producer: 20150810
In:
The Journal of experimental medicine vol. 212
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11.
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Natural killer cell hyporesponsiveness and impaired development in a CD247-deficient patient. [electronic resource] by
- Valés-Gómez, Mar
- Esteso, Gloria
- Aydogmus, Cigdem
- Blázquez-Moreno, Alfonso
- Marín, Ana V
- Briones, Alejandro C
- Garcillán, Beatriz
- García-Cuesta, Eva-María
- López Cobo, Sheila
- Haskologlu, Sule
- Moraru, Manuela
- Cipe, Funda
- Dobbs, Kerry
- Dogu, Figen
- Parolini, Silvia
- Notarangelo, Luigi D
- Vilches, Carlos
- Recio, Maria J
- Regueiro, José R
- Ikinciogullari, Aydan
- Reyburn, Hugh T
Producer: 20160808
In:
The Journal of allergy and clinical immunology vol. 137
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12.
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Next generation sequencing reveals skewing of the T and B cell receptor repertoires in patients with wiskott-Aldrich syndrome. [electronic resource] by
- O'Connell, Amy E
- Volpi, Stefano
- Dobbs, Kerry
- Fiorini, Claudia
- Tsitsikov, Erdyni
- de Boer, Helen
- Barlan, Isil B
- Despotovic, Jenny M
- Espinosa-Rosales, Francisco J
- Hanson, I Celine
- Kanariou, Maria G
- Martínez-Beckerat, Roxana
- Mayorga-Sirera, Alvaro
- Mejia-Carvajal, Carmen
- Radwan, Nesrine
- Weiss, Aaron R
- Pai, Sung-Yun
- Lee, Yu Nee
- Notarangelo, Luigi D
Producer: 20140807
In:
Frontiers in immunology vol. 5
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13.
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Defining a new immune deficiency syndrome: MAN2B2-CDG. [electronic resource] by
- Verheijen, Jan
- Wong, Sunnie Y
- Rowe, Jared H
- Raymond, Kimiyo
- Stoddard, Jennifer
- Delmonte, Ottavia M
- Bosticardo, Marita
- Dobbs, Kerry
- Niemela, Julie
- Calzoni, Enrica
- Pai, Sung-Yun
- Choi, Uimook
- Yamazaki, Yasuhiro
- Comeau, Anne Marie
- Janssen, Erin
- Henderson, Lauren
- Hazen, Melissa
- Berry, Gerard
- Rosenzweig, Sergio D
- Aldhekri, Hasan Hamdan
- He, Miao
- Notarangelo, Luigi D
- Morava, Eva
Producer: 20201130
In:
The Journal of allergy and clinical immunology vol. 145
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14.
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Hyperactivated PI3Kδ promotes self and commensal reactivity at the expense of optimal humoral immunity. [electronic resource] by
- Preite, Silvia
- Cannons, Jennifer L
- Radtke, Andrea J
- Vujkovic-Cvijin, Ivan
- Gomez-Rodriguez, Julio
- Volpi, Stefano
- Huang, Bonnie
- Cheng, Jun
- Collins, Nicholas
- Reilley, Julie
- Handon, Robin
- Dobbs, Kerry
- Huq, Lutfi
- Raman, Indu
- Zhu, Chengsong
- Li, Quan-Zhen
- Li, Ming O
- Pittaluga, Stefania
- Uzel, Gulbu
- Notarangelo, Luigi D
- Belkaid, Yasmine
- Germain, Ronald N
- Schwartzberg, Pamela L
Producer: 20190522
In:
Nature immunology vol. 19
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15.
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Cysteine and hydrophobic residues in CDR3 serve as distinct T-cell self-reactivity indices. [electronic resource] by
- Daley, Stephen R
- Koay, Hui-Fern
- Dobbs, Kerry
- Bosticardo, Marita
- Wirasinha, Rushika C
- Pala, Francesca
- Castagnoli, Riccardo
- Rowe, Jared H
- Ott de Bruin, Lisa M
- Keles, Sevgi
- Lee, Yu Nee
- Somech, Raz
- Holland, Steven M
- Delmonte, Ottavia M
- Draper, Debbie
- Maxwell, Sandra
- Niemela, Julie
- Stoddard, Jennifer
- Rosenzweig, Sergio D
- Poliani, Pietro Luigi
- Capo, Valentina
- Villa, Anna
- Godfrey, Dale I
- Notarangelo, Luigi D
Producer: 20200518
In:
The Journal of allergy and clinical immunology vol. 144
Availability: No items available.
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16.
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Whole-exome sequencing identifies tetratricopeptide repeat domain 7A (TTC7A) mutations for combined immunodeficiency with intestinal atresias. [electronic resource] by
- Chen, Rui
- Giliani, Silvia
- Lanzi, Gaetana
- Mias, George I
- Lonardi, Silvia
- Dobbs, Kerry
- Manis, John
- Im, Hogune
- Gallagher, Jennifer E
- Phanstiel, Douglas H
- Euskirchen, Ghia
- Lacroute, Philippe
- Bettinger, Keith
- Moratto, Daniele
- Weinacht, Katja
- Montin, Davide
- Gallo, Eleonora
- Mangili, Giovanna
- Porta, Fulvio
- Notarangelo, Lucia D
- Pedretti, Stefania
- Al-Herz, Waleed
- Alfahdli, Wasmi
- Comeau, Anne Marie
- Traister, Russell S
- Pai, Sung-Yun
- Carella, Graziella
- Facchetti, Fabio
- Nadeau, Kari C
- Snyder, Michael
- Notarangelo, Luigi D
Producer: 20131112
In:
The Journal of allergy and clinical immunology vol. 132
Availability: No items available.
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17.
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A systematic analysis of recombination activity and genotype-phenotype correlation in human recombination-activating gene 1 deficiency. [electronic resource] by
- Lee, Yu Nee
- Frugoni, Francesco
- Dobbs, Kerry
- Walter, Jolan E
- Giliani, Silvia
- Gennery, Andrew R
- Al-Herz, Waleed
- Haddad, Elie
- LeDeist, Francoise
- Bleesing, Jack H
- Henderson, Lauren A
- Pai, Sung-Yun
- Nelson, Robert P
- El-Ghoneimy, Dalia H
- El-Feky, Reem A
- Reda, Shereen M
- Hossny, Elham
- Soler-Palacin, Pere
- Fuleihan, Ramsay L
- Patel, Niraj C
- Massaad, Michel J
- Geha, Raif S
- Puck, Jennifer M
- Palma, Paolo
- Cancrini, Caterina
- Chen, Karin
- Vihinen, Mauno
- Alt, Frederick W
- Notarangelo, Luigi D
Producer: 20140616
In:
The Journal of allergy and clinical immunology vol. 133
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18.
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Severe influenza pneumonitis in children with inherited TLR3 deficiency. [electronic resource] by
- Lim, Hye Kyung
- Huang, Sarah X L
- Chen, Jie
- Kerner, Gaspard
- Gilliaux, Olivier
- Bastard, Paul
- Dobbs, Kerry
- Hernandez, Nicholas
- Goudin, Nicolas
- Hasek, Mary L
- García Reino, Eduardo Javier
- Lafaille, Fabien G
- Lorenzo, Lazaro
- Luthra, Priya
- Kochetkov, Tatiana
- Bigio, Benedetta
- Boucherit, Soraya
- Rozenberg, Flore
- Vedrinne, Catherine
- Keller, Michael D
- Itan, Yuval
- García-Sastre, Adolfo
- Celard, Marie
- Orange, Jordan S
- Ciancanelli, Michael J
- Meyts, Isabelle
- Zhang, Qian
- Abel, Laurent
- Notarangelo, Luigi D
- Snoeck, Hans-Willem
- Casanova, Jean-Laurent
- Zhang, Shen-Ying
Producer: 20200610
In:
The Journal of experimental medicine vol. 216
Availability: No items available.
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19.
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Cutaneous barrier leakage and gut inflammation drive skin disease in Omenn syndrome. [electronic resource] by
- Rigoni, Rosita
- Fontana, Elena
- Dobbs, Kerry
- Marrella, Veronica
- Taverniti, Valentina
- Maina, Virginia
- Facoetti, Amanda
- D'Amico, Giovanna
- Al-Herz, Waleed
- Cruz-Munoz, Mario Ernesto
- Schuetz, Catharina
- Gennery, Andrew R
- Garabedian, Elizabeth K
- Giliani, Silvia
- Draper, Deborah
- Dbaibo, Ghassan
- Geha, Raif S
- Meyts, Isabelle
- Tousseyn, Thomas
- Neven, Benedicte
- Moshous, Despina
- Fischer, Alain
- Schulz, Ansgar
- Finocchi, Andrea
- Kuhns, Douglas B
- Fink, Danielle L
- Lionakis, Michail S
- Swamydas, Muthulekha
- Guglielmetti, Simone
- Alejo, Julie
- Myles, Ian A
- Pittaluga, Stefania
- Notarangelo, Luigi D
- Villa, Anna
- Cassani, Barbara
Producer: 20210315
In:
The Journal of allergy and clinical immunology vol. 146
Availability: No items available.
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20.
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Characterization of T and B cell repertoire diversity in patients with RAG deficiency. [electronic resource] by
- Lee, Yu Nee
- Frugoni, Francesco
- Dobbs, Kerry
- Tirosh, Irit
- Du, Likun
- Ververs, Francesca A
- Ru, Heng
- Ott de Bruin, Lisa
- Adeli, Mehdi
- Bleesing, Jacob H
- Buchbinder, David
- Butte, Manish J
- Cancrini, Caterina
- Chen, Karin
- Choo, Sharon
- Elfeky, Reem A
- Finocchi, Andrea
- Fuleihan, Ramsay L
- Gennery, Andrew R
- El-Ghoneimy, Dalia H
- Henderson, Lauren A
- Al-Herz, Waleed
- Hossny, Elham
- Nelson, Robert P
- Pai, Sung-Yun
- Patel, Niraj C
- Reda, Shereen M
- Soler-Palacin, Pere
- Somech, Raz
- Palma, Paolo
- Wu, Hao
- Giliani, Silvia
- Walter, Jolan E
- Notarangelo, Luigi D
Publication details: Science immunology 12 2016
In:
Science immunology vol. 1
Availability: No items available.
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