Results
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261.
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Gain-of-Function Mutations in [electronic resource] by
- Eren Akarcan, Sanem
- Ulusoy Severcan, Ezgi
- Edeer Karaca, Neslihan
- Isik, Esra
- Aksu, Guzide
- Migaud, Mélanie
- Evin Gurkan, Ferda
- Azarsiz, Elif
- Puel, Anne
- Casanova, Jean-Laurent
- Kutukculer, Necil
Publication details: Case reports in immunology 2017
In:
Case reports in immunology vol. 2017
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262.
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Evolutionary genetic dissection of human interferons. [electronic resource] by
- Manry, Jérémy
- Laval, Guillaume
- Patin, Etienne
- Fornarino, Simona
- Itan, Yuval
- Fumagalli, Matteo
- Sironi, Manuela
- Tichit, Magali
- Bouchier, Christiane
- Casanova, Jean-Laurent
- Barreiro, Luis B
- Quintana-Murci, Lluis
Producer: 20120214
In:
The Journal of experimental medicine vol. 208
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263.
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IL-17 T cells' defective differentiation in vitro despite normal range ex vivo in chronic mucocutaneous candidiasis due to STAT1 mutation. [electronic resource] by
- Mekki, Najla
- Ben-Mustapha, Imen
- Liu, Luyan
- Boussofara, Lobna
- Okada, Satoshi
- Cypowyj, Sophie
- Ghariani, Najet
- Saidi, Wafa
- Denguezli, Mohamed
- Casanova, Jean-Laurent
- Puel, Anne
- Barbouche, Mohamed-Ridha
Producer: 20140527
In:
The Journal of investigative dermatology vol. 134
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264.
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An ACT1 mutation selectively abolishes interleukin-17 responses in humans with chronic mucocutaneous candidiasis. [electronic resource] by
- Boisson, Bertrand
- Wang, Chenhui
- Pedergnana, Vincent
- Wu, Ling
- Cypowyj, Sophie
- Rybojad, Michel
- Belkadi, Aziz
- Picard, Capucine
- Abel, Laurent
- Fieschi, Claire
- Puel, Anne
- Li, Xiaoxia
- Casanova, Jean-Laurent
Producer: 20131213
In:
Immunity vol. 39
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265.
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Interleukin 1/Toll-like receptor-induced autophosphorylation activates interleukin 1 receptor-associated kinase 4 and controls cytokine induction in a cell type-specific manner. [electronic resource] by
- Cushing, Leah
- Stochaj, Wayne
- Siegel, Marshall
- Czerwinski, Robert
- Dower, Ken
- Wright, Quentin
- Hirschfield, Margaret
- Casanova, Jean-Laurent
- Picard, Capucine
- Puel, Anne
- Lin, Lih-Ling
- Rao, Vikram R
Producer: 20140620
In:
The Journal of biological chemistry vol. 289
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266.
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Inherited disorders of human Toll-like receptor signaling: immunological implications. [electronic resource] by
- Ku, Cheng-Lung
- Yang, Kun
- Bustamante, Jacinta
- Puel, Anne
- von Bernuth, Horst
- Santos, Orchidée Filipe
- Lawrence, Tatiana
- Chang, Huey-Hsuan
- Al-Mousa, Hamoud
- Picard, Capucine
- Casanova, Jean-Laurent
Producer: 20050614
In:
Immunological reviews vol. 203
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267.
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268.
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Heritable defects of the human TLR signalling pathways. [electronic resource] by
- Puel, Anne
- Yang, Kun
- Ku, Cheng-Lung
- von Bernuth, Horst
- Bustamante, Jacinta
- Santos, Orchidée Filipe
- Lawrence, Tatiana
- Chang, Huey-Hsuan
- Al-Mousa, Hamoud
- Picard, Capucine
- Casanova, Jean-Laurent
Producer: 20051107
In:
Journal of endotoxin research vol. 11
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269.
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Classic Kaposi sarcoma in 3 unrelated Turkish children born to consanguineous kindreds. [electronic resource] by
- Sahin, Gürses
- Palanduz, Ayse
- Aydogan, Gonul
- Cassar, Olivier
- Ertem, A Ulya
- Telhan, Leyla
- Canpolat, Nur
- Jouanguy, Emmanuelle
- Picard, Capucine
- Gessain, Antoine
- Abel, Laurent
- Casanova, Jean-Laurent
- Plancoulaine, Sabine
Producer: 20100405
In:
Pediatrics vol. 125
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270.
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Diagnostics of rare disorders: whole-exome sequencing deciphering locus heterogeneity in telomere biology disorders. [electronic resource] by
- Trotta, Luca
- Norberg, Anna
- Taskinen, Mervi
- Béziat, Vivien
- Degerman, Sofie
- Wartiovaara-Kautto, Ulla
- Välimaa, Hannamari
- Jahnukainen, Kirsi
- Casanova, Jean-Laurent
- Seppänen, Mikko
- Saarela, Janna
- Koskenvuo, Minna
- Martelius, Timi
Producer: 20190318
In:
Orphanet journal of rare diseases vol. 13
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271.
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The proteome of Toll-like receptor 3-stimulated human immortalized fibroblasts: implications for susceptibility to herpes simplex virus encephalitis. [electronic resource] by
- Pérez de Diego, Rebeca
- Mulvey, Claire
- Crawford, Mark
- Trotter, Matthew W B
- Lorenzo, Lazaro
- Sancho-Shimizu, Vanessa
- Abel, Laurent
- Zhang, Shen-Ying
- Casanova, Jean-Laurent
- Godovac-Zimmermann, Jasminka
Producer: 20130704
In:
The Journal of allergy and clinical immunology vol. 131
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272.
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TLR8-mediated NF-kappaB and JNK activation are TAK1-independent and MEKK3-dependent. [electronic resource] by
- Qin, Jinzhong
- Yao, Jianhong
- Cui, Grace
- Xiao, Hui
- Kim, Tae Whan
- Fraczek, Jerzy
- Wightman, Paul
- Sato, Shintaro
- Akira, Shizuo
- Puel, Anne
- Casanova, Jean-Laurent
- Su, Bing
- Li, Xiaoxia
Producer: 20060918
In:
The Journal of biological chemistry vol. 281
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273.
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Essential role of nuclear factor-kappaB for NADPH oxidase activity in normal and anhidrotic ectodermal dysplasia leukocytes. [electronic resource] by
- Luengo-Blanco, Marcos
- Prando, Carolina
- Bustamante, Jacinta
- Aragão-Filho, Walmir Cutrim
- Pereira, Paulo Vitor Soeiro
- Rehder, Jussara
- Padden, Carolyn
- Casanova, Jean-Laurent
- Newburger, Peter E
- Condino-Neto, Antonio
Producer: 20080916
In:
Blood vol. 112
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274.
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CDG: An Online Server for Detecting Biologically Closest Disease-Causing Genes and its Application to Primary Immunodeficiency. [electronic resource] by
- Requena, David
- Maffucci, Patrick
- Bigio, Benedetta
- Shang, Lei
- Abhyankar, Avinash
- Boisson, Bertrand
- Stenson, Peter D
- Cooper, David N
- Cunningham-Rundles, Charlotte
- Casanova, Jean-Laurent
- Abel, Laurent
- Itan, Yuval
Publication details: Frontiers in immunology 2018
In:
Frontiers in immunology vol. 9
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275.
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IFN-gamma and IL-12 differentially regulate CC-chemokine secretion and CCR5 expression in human T lymphocytes. [electronic resource] by
- Losana, Giuliana
- Bovolenta, Chiara
- Rigamonti, Laura
- Borghi, Igor
- Altare, Frederic
- Jouanguy, Emmanuelle
- Forni, Guido
- Casanova, Jean-Laurent
- Sherry, Barbara
- Mengozzi, Manuela
- Trinchieri, Giorgio
- Poli, Guido
- Gerosa, Franca
- Novelli, Francesco
Producer: 20021115
In:
Journal of leukocyte biology vol. 72
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276.
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Whole-exome sequencing-based discovery of STIM1 deficiency in a child with fatal classic Kaposi sarcoma. [electronic resource] by
- Byun, Minji
- Abhyankar, Avinash
- Lelarge, Virginie
- Plancoulaine, Sabine
- Palanduz, Ayse
- Telhan, Leyla
- Boisson, Bertrand
- Picard, Capucine
- Dewell, Scott
- Zhao, Connie
- Jouanguy, Emmanuelle
- Feske, Stefan
- Abel, Laurent
- Casanova, Jean-Laurent
Producer: 20101116
In:
The Journal of experimental medicine vol. 207
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277.
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Functional characterization of the human dendritic cell immunodeficiency associated with the IRF8(K108E) mutation. [electronic resource] by
- Salem, Sandra
- Langlais, David
- Lefebvre, François
- Bourque, Guillaume
- Bigley, Venetia
- Haniffa, Muzz
- Casanova, Jean-Laurent
- Burk, David
- Berghuis, Albert
- Butler, Karina M
- Leahy, Timothy Ronan
- Hambleton, Sophie
- Gros, Philippe
Producer: 20150930
In:
Blood vol. 124
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278.
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Kaposi sarcoma, oral malformations, mitral dysplasia, and scoliosis associated with 7q34-q36.3 heterozygous terminal deletion. [electronic resource] by
- Jackson, Carolyn C
- Lefèvre-Utile, Alain
- Guimier, Anne
- Malan, Valérie
- Bruneau, Julie
- Gessain, Antoine
- Cassar, Olivier
- Amiel, Jeanne
- Cobat, Aurélie
- Rattina, Vimel
- Abel, Laurent
- Casanova, Jean-Laurent
- Blanche, Stéphane
Publication details: American journal of medical genetics. Part A Jul 2017
In:
American journal of medical genetics. Part A vol. 173
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279.
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NEMO mutations in 2 unrelated boys with severe infections and conical teeth. [electronic resource] by
- Ku, Cheng-Lung
- Dupuis-Girod, Sophie
- Dittrich, Anna-Maria
- Bustamante, Jacinta
- Santos, Orchidée Filipe
- Schulze, Ilka
- Bertrand, Yves
- Couly, Gérard
- Bodemer, Christine
- Bossuyt, Xavier
- Picard, Capucine
- Casanova, Jean-Laurent
Producer: 20050927
In:
Pediatrics vol. 115
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280.
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Familial NK cell deficiency associated with impaired IL-2- and IL-15-dependent survival of lymphocytes. [electronic resource] by
- Eidenschenk, Céline
- Jouanguy, Emmanuelle
- Alcaïs, Alexandre
- Mention, Jean-Jacques
- Pasquier, Benoit
- Fleckenstein, Ingrid M
- Puel, Anne
- Gineau, Laure
- Carel, Jean-Claude
- Vivier, Eric
- Le Deist, Françoise
- Casanova, Jean-Laurent
Producer: 20070116
In:
Journal of immunology (Baltimore, Md. : 1950) vol. 177
Availability: No items available.
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