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1 . Academic Journal
Partial IFN-γR2 deficiency is due to protein misfolding and can be rescued by inhibitors of glycosylation
저자
by
Moncada-Vélez, Marcela
;
Martinez-Barricarte, Rubén
;
Bogunovic, Dusan
;
Kong, Xiao-Fei
;
Blancas-Galicia, Lizbeth
, et al.
소스
In
Blood
3 October 2013 122(14):2390-2401
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7 . Academic Journal
Novel hypomorphic mutation in IKBKG impairs NEMO-ubiquitylation causing ectodermal dysplasia, immunodeficiency, incontinentia pigmenti, and immune thrombocytopenic purpura
저자
by
Ramírez-Alejo, Noé
;
Alcántara-Montiel, Julio C.
;
Yamazaki-Nakashimada, Marco
;
Duran-McKinster, Carola
;
Valenzuela-León, Paola
, et al.
소스
In
Clinical Immunology
October 2015 160(2):163-171
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7 . Academic Journal
Homozygosity for TYK2 P1104A underlies tuberculosis in about 1% of patients in a cohort of European ancestry.
저자
by
Kerner, Gaspard
;
Ramirez-Alejo, Noe
;
Seeleuthner, Yoann
;
Rui Yang
;
Masato Ogishi
, et al.
소스
Proceedings of the National Academy of Sciences of the United States of America
. 5/21/2019, Vol. 116 Issue 21, p10430-10434. 5p.
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7 . Academic Journal
Mendelian susceptibility to mycobacterial disease: 2014–2018 update.
저자
by
Rosain, Jérémie
;
Kong, Xiao‐Fei
;
Martinez‐Barricarte, Ruben
;
Oleaga‐Quintas, Carmen
;
Ramirez‐Alejo, Noé
, et al.
소스
Immunology & Cell Biology
. Apr2019, Vol. 97 Issue 4, p360-367. 8p.
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7 . Academic Journal
Human IFN-γ immunity to mycobacteria is governed by both IL-12 and IL-23.
저자
by
Martínez-Barricarte, Rubén
;
Markle, Janet G.
;
Ma, Cindy S.
;
Deenick, Elissa K.
;
Ramírez-Alejo, Noé
, et al.
소스
Science Immunology; 2018, Vol. 3 Issue 30, p1-12, 12p
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7 . Academic Journal
Tuberculosis and impaired IL-23–dependent IFN-γ immunity in humans homozygous for a common TYK2 missense variant.
저자
by
Boisson-Dupuis, Stéphanie
;
Ramirez-Alejo, Noe
;
Li, Zhi
;
Patin, Etienne
;
Rao, Geetha
, et al.
소스
Science Immunology; 2018, Vol. 3 Issue 30, p1-19, 19p
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7 . Periodical
Impaired IL-23–dependent induction of IFN-γ underlies mycobacterial disease in patients with inherited TYK2 deficiency
저자
by
Ogishi, Masato
;
Arias, Andrés Augusto
;
Yang, Rui
;
Han, Ji Eun
;
Zhang, Peng
, et al.
소스
The Journal of Experimental Medicine; October 2022, Vol. 219 Issue: 10 pe20220094-e20220094, 1p
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7 . Academic Journal
Successful adjunctive immunoglobulin treatment in patients affected by leukocyte adhesion deficiency type 1 (LAD-1).
저자
by
Yamazaki-Nakashimada, Marco
;
Maravillas-Montero, José
;
Berrón-Ruiz, Laura
;
López-Ortega, Orestes
;
Ramírez-Alejo, Noé
, et al.
소스
Immunologic Research; Mar2015, Vol. 61 Issue 3, p260-268, 9p
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7 . Academic Journal
IL-12Rβ1 Deficiency: Mutation Update and Description of the IL12RB1 Variation Database
저자
by
van de Vosse, Esther
;
Haverkamp, Margje H.
;
Ramirez-Alejo, Noe
;
Martinez-Gallo, Mónica
;
Blancas-Galicia, Lizbeth
, et al.
소스
Human Mutation
. Oct 01, 2013 34(10):1329-1339
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7 . Periodical
Human TYK2 deficiency: Mycobacterial and viral infections without hyper-IgE syndrome
저자
by
Kreins, Alexandra Y.
;
Ciancanelli, Michael J.
;
Okada, Satoshi
;
Kong, Xiao-Fei
;
Ramírez-Alejo, Noé
, et al.
소스
The Journal of Experimental Medicine; September 2015, Vol. 212 Issue: 10 p1641-1662, 22p
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