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241.
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BCG-osis and tuberculosis in a child with chronic granulomatous disease. [electronic resource] by
- Bustamante, Jacinta
- Aksu, Guzide
- Vogt, Guillaume
- de Beaucoudrey, Ludovic
- Genel, Ferah
- Chapgier, Ariane
- Filipe-Santos, Orchidée
- Feinberg, Jacqueline
- Emile, Jean-François
- Kutukculer, Necil
- Casanova, Jean-Laurent
Producer: 20070904
In:
The Journal of allergy and clinical immunology vol. 120
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242.
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IFN-gamma regulates Fas ligand expression in human CD4+ T lymphocytes and controls their anti-mycobacterial cytotoxic functions. [electronic resource] by
- Boselli, Daniela
- Losana, Giuliana
- Bernabei, Paola
- Bosisio, Daniela
- Drysdale, Pamela
- Kiessling, Rolf
- Gaston, John S H
- Lammas, David
- Casanova, Jean-Laurent
- Kumararatne, Dinakantha S
- Novelli, Francesco
Producer: 20070921
In:
European journal of immunology vol. 37
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243.
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244.
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LINE-1-Mediated AluYa5 Insertion Underlying Complete Autosomal Recessive IFN-γR1 Deficiency. [electronic resource] by
- Rosain, Jérémie
- Deswarte, Caroline
- Hancioglu, Gonca
- Oleaga-Quintas, Carmen
- Kutlug, Seyhan
- Kartal, Ibrahim
- Kuzu, Isinsu
- Toullec, Laurie
- Tusseau, Maud
- Casanova, Jean-Laurent
- Yildiran, Alisan
- Bustamante, Jacinta
Producer: 20200713
In:
Journal of clinical immunology vol. 39
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245.
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Disseminated Mycobacterium avium infection in a 20-year-old female with partial recessive IFNgammaR1 deficiency. [electronic resource] by
- Remiszewski, Paweł
- Roszkowska-Sliz, Barbara
- Winek, Jolanta
- Chapgier, Ariane
- Feinberg, Jacquelin
- Langfort, Renata
- Bestry, Iwona
- Augustynowicz-Kopeć, Ewa
- Ptak, Jakub
- Casanova, Jean-Laurent
- Rowińska-Zakrzewska, Ewa
Producer: 20061017
In:
Respiration; international review of thoracic diseases vol. 73
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246.
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HHV-8-associated Kaposi sarcoma in a child with IFNgammaR1 deficiency. [electronic resource] by
- Camcioglu, Yildiz
- Picard, Capucine
- Lacoste, Vincent
- Dupuis, Stéphanie
- Akçakaya, Necla
- Cokura, Haluk
- Kaner, Gültekin
- Demirkesen, Cuyan
- Plancoulaine, Sabine
- Emile, Jean-François
- Gessain, Antoine
- Casanova, Jean-Laurent
Producer: 20040601
In:
The Journal of pediatrics vol. 144
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247.
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Addressing diagnostic challenges in primary immunodeficiencies: laboratory evaluation of Toll-like receptor- and NF-κB-mediated immune responses. [electronic resource] by
- Frans, Glynis
- Meyts, Isabelle
- Picard, Capucine
- Puel, Anne
- Zhang, Shen-Ying
- Moens, Leen
- Wuyts, Greet
- Van der Werff Ten Bosch, Jutte
- Casanova, Jean-Laurent
- Bossuyt, Xavier
Producer: 20141103
In:
Critical reviews in clinical laboratory sciences vol. 51
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248.
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Homozygosity for [electronic resource] by
- Kerner, Gaspard
- Ramirez-Alejo, Noe
- Seeleuthner, Yoann
- Yang, Rui
- Ogishi, Masato
- Cobat, Aurélie
- Patin, Etienne
- Quintana-Murci, Lluis
- Boisson-Dupuis, Stéphanie
- Casanova, Jean-Laurent
- Abel, Laurent
Producer: 20200326
In:
Proceedings of the National Academy of Sciences of the United States of America vol. 116
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249.
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IL-12Rβ1 deficiency and disseminated Mycobacterium tilburgii disease. [electronic resource] by
- Schepers, Kinda
- Schandené, Liliane
- Bustamante, Jacinta
- Van Vooren, Jean-Paul
- de Suremain, Maylis
- Casanova, Jean-Laurent
- Yombi, Jean Cyr
- Jacobs, Frédérique
- Mascart, Françoise
- Goffard, Jean-Christophe
Producer: 20140616
In:
Journal of clinical immunology vol. 33
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250.
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HGCS: an online tool for prioritizing disease-causing gene variants by biological distance. [electronic resource] by
- Itan, Yuval
- Mazel, Mark
- Mazel, Benjamin
- Abhyankar, Avinash
- Nitschke, Patrick
- Quintana-Murci, Lluis
- Boisson-Dupuis, Stephanie
- Boisson, Bertrand
- Abel, Laurent
- Zhang, Shen-Ying
- Casanova, Jean-Laurent
Producer: 20141118
In:
BMC genomics vol. 15
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251.
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Molecular, Immunological, and Clinical Features of 16 Iranian Patients with Mendelian Susceptibility to Mycobacterial Disease. [electronic resource] by
- Sarrafzadeh, Shokouh Azam
- Nourizadeh, Maryam
- Mahloojirad, Maryam
- Fazlollahi, Mohammad Reza
- Shokouhi Shoormasti, Raheleh
- Badalzadeh, Mohsen
- Deswarte, Caroline
- Casanova, Jean-Laurent
- Pourpak, Zahra
- Bustamante, Jacinta
- Moin, Mostafa
Producer: 20200706
In:
Journal of clinical immunology vol. 39
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252.
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Homozygous STAT2 gain-of-function mutation by loss of USP18 activity in a patient with type I interferonopathy. [electronic resource] by
- Gruber, Conor
- Martin-Fernandez, Marta
- Ailal, Fatima
- Qiu, Xueer
- Taft, Justin
- Altman, Jennie
- Rosain, Jérémie
- Buta, Sofija
- Bousfiha, Aziz
- Casanova, Jean-Laurent
- Bustamante, Jacinta
- Bogunovic, Dusan
Producer: 20201224
In:
The Journal of experimental medicine vol. 217
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253.
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Correction to: the IL1RN Mutation Creating the Most-Upstream Premature Stop Codon Is Hypomorphic because of a Reinitiation of Translation. [electronic resource] by
- Moriya, Kunihiko
- Kadowaki, Saori
- Nakano, Tomohiro
- Akarcan, Sanem E
- Kutukculer, Necil
- Aksu, Guzide
- Sasahara, Yoji
- Kure, Shigeo
- Ohnishi, Hidenori
- Casanova, Jean-Laurent
- Puel, Anne
- Fukao, Toshiyuki
Publication details: Journal of clinical immunology May 2020
In:
Journal of clinical immunology vol. 40
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254.
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Severe combined immunodeficiency and microcephaly in siblings with hypomorphic mutations in DNA ligase IV. [electronic resource] by
- Buck, Dietke
- Moshous, Despina
- de Chasseval, Régina
- Ma, Yunmei
- le Deist, Françoise
- Cavazzana-Calvo, Marina
- Fischer, Alain
- Casanova, Jean-Laurent
- Lieber, Michael R
- de Villartay, Jean-Pierre
Producer: 20060217
In:
European journal of immunology vol. 36
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255.
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256.
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Successful allogeneic hemopoietic stem cell transplantation in a child who had anhidrotic ectodermal dysplasia with immunodeficiency. [electronic resource] by
- Dupuis-Girod, Sophie
- Cancrini, Caterina
- Le Deist, Françoise
- Palma, Paolo
- Bodemer, Christine
- Puel, Anne
- Livadiotti, Susanna
- Picard, Capucine
- Bossuyt, Xavier
- Rossi, Paolo
- Fischer, Alain
- Casanova, Jean-Laurent
Producer: 20060809
In:
Pediatrics vol. 118
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257.
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A novel homozygous p.R1105X mutation of the AP4E1 gene in twins with hereditary spastic paraplegia and mycobacterial disease. [electronic resource] by
- Kong, Xiao-Fei
- Bousfiha, Aziz
- Rouissi, Abdelfettah
- Itan, Yuval
- Abhyankar, Avinash
- Bryant, Vanessa
- Okada, Satoshi
- Ailal, Fatima
- Bustamante, Jacinta
- Casanova, Jean-Laurent
- Hirst, Jennifer
- Boisson-Dupuis, Stéphanie
Producer: 20131203
In:
PloS one vol. 8
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258.
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A CIB1 Splice-Site Founder Mutation in Families with Typical Epidermodysplasia Verruciformis. [electronic resource] by
- Vahidnezhad, Hassan
- Youssefian, Leila
- Saeidian, Amir Hossein
- Mansoori, Behzad
- Jazayeri, Ali
- Azizpour, Arghavan
- Hesari, Kambriz Kamyab
- Yousefi, Mehdi
- Zeinali, Sirous
- Jouanguy, Emmanuelle
- Casanova, Jean-Laurent
- Uitto, Jouni
Producer: 20200507
In:
The Journal of investigative dermatology vol. 139
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259.
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Exome and genome sequencing for inborn errors of immunity. [electronic resource] by
- Meyts, Isabelle
- Bosch, Barbara
- Bolze, Alexandre
- Boisson, Bertrand
- Itan, Yuval
- Belkadi, Aziz
- Pedergnana, Vincent
- Moens, Leen
- Picard, Capucine
- Cobat, Aurélie
- Bossuyt, Xavier
- Abel, Laurent
- Casanova, Jean-Laurent
Producer: 20170705
In:
The Journal of allergy and clinical immunology vol. 138
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260.
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Capturing the biology of disease severity in a PSC-based model of familial dysautonomia. [electronic resource] by
- Zeltner, Nadja
- Fattahi, Faranak
- Dubois, Nicole C
- Saurat, Nathalie
- Lafaille, Fabien
- Shang, Lei
- Zimmer, Bastian
- Tchieu, Jason
- Soliman, Mohamed A
- Lee, Gabsang
- Casanova, Jean-Laurent
- Studer, Lorenz
Producer: 20170808
In:
Nature medicine vol. 22
Availability: No items available.
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