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Page 1
Unique and shared signaling pathways cooperate to regulate the differentiation of human CD4+ T cells into distinct effector subsets.
Ma CS, Wong N, Rao G, Nguyen A, Avery DT, Payne K, Torpy J, O'Young P, Deenick E, Bustamante J, Puel A, Okada S, Kobayashi M, Martinez-Barricarte R, Elliott M, Sebnem Kilic S, El Baghdadi J, Minegishi Y, Bousfiha A, Robertson N, Hambleton S, Arkwright PD, French M, Blincoe AK, Hsu P, Campbell DE, Stormon MO, Wong M, Adelstein S, Fulcher DA, Cook MC, Stepensky P, Boztug K, Beier R, Ikincioğullari A, Ziegler JB, Gray P, Picard C, Boisson-Dupuis S, Phan TG, Grimbacher B, Warnatz K, Holland SM, Uzel G, Casanova JL, Tangye SG. Ma CS, et al. J Exp Med. 2016 Jul 25;213(8):1589-608. doi: 10.1084/jem.20151467. Epub 2016 Jul 11. J Exp Med. 2016. PMID: 27401342 Free PMC article.
Partial IFN-γR2 deficiency is due to protein misfolding and can be rescued by inhibitors of glycosylation.
Moncada-Vélez M, Martinez-Barricarte R, Bogunovic D, Kong XF, Blancas-Galicia L, Tirpan C, Aksu G, Vincent QB, Boisson B, Itan Y, Ramírez-Alejo N, Okada S, Kreins AY, Bryant VL, Franco JL, Migaud M, Espinosa-Padilla S, Yamazaki-Nakashimada M, Espinosa-Rosales F, Kutukculer N, Abel L, Bustamante J, Vogt G, Casanova JL, Boisson-Dupuis S. Moncada-Vélez M, et al. Blood. 2013 Oct 3;122(14):2390-401. doi: 10.1182/blood-2013-01-480814. Epub 2013 Aug 20. Blood. 2013. PMID: 23963039 Free PMC article.
Mycobacterium simiae infection in two unrelated patients with different forms of inherited IFN-γR2 deficiency.
Martínez-Barricarte R, Megged O, Stepensky P, Casimir P, Moncada-Velez M, Averbuch D, Assous MV, Abuzaitoun O, Kong XF, Pedergnana V, Deswarte C, Migaud M, Rose-John S, Itan Y, Boisson B, Belkadi A, Conti F, Abel L, Vogt G, Boisson-Dupuis S, Casanova JL, Bustamante J. Martínez-Barricarte R, et al. J Clin Immunol. 2014 Nov;34(8):904-9. doi: 10.1007/s10875-014-0085-5. Epub 2014 Aug 19. J Clin Immunol. 2014. PMID: 25135595 Free PMC article.
IMMUNODEFICIENCIES. Impairment of immunity to Candida and Mycobacterium in humans with bi-allelic RORC mutations.
Okada S, Markle JG, Deenick EK, Mele F, Averbuch D, Lagos M, Alzahrani M, Al-Muhsen S, Halwani R, Ma CS, Wong N, Soudais C, Henderson LA, Marzouqa H, Shamma J, Gonzalez M, Martinez-Barricarte R, Okada C, Avery DT, Latorre D, Deswarte C, Jabot-Hanin F, Torrado E, Fountain J, Belkadi A, Itan Y, Boisson B, Migaud M, Arlehamn CSL, Sette A, Breton S, McCluskey J, Rossjohn J, de Villartay JP, Moshous D, Hambleton S, Latour S, Arkwright PD, Picard C, Lantz O, Engelhard D, Kobayashi M, Abel L, Cooper AM, Notarangelo LD, Boisson-Dupuis S, Puel A, Sallusto F, Bustamante J, Tangye SG, Casanova JL. Okada S, et al. Science. 2015 Aug 7;349(6248):606-613. doi: 10.1126/science.aaa4282. Epub 2015 Jul 9. Science. 2015. PMID: 26160376 Free PMC article.
Genetic errors of the human caspase recruitment domain-B-cell lymphoma 10-mucosa-associated lymphoid tissue lymphoma-translocation gene 1 (CBM) complex: Molecular, immunologic, and clinical heterogeneity.
Pérez de Diego R, Sánchez-Ramón S, López-Collazo E, Martínez-Barricarte R, Cubillos-Zapata C, Ferreira Cerdán A, Casanova JL, Puel A. Pérez de Diego R, et al. J Allergy Clin Immunol. 2015 Nov;136(5):1139-49. doi: 10.1016/j.jaci.2015.06.031. Epub 2015 Aug 12. J Allergy Clin Immunol. 2015. PMID: 26277595 Free PMC article. Review.
Human TYK2 deficiency: Mycobacterial and viral infections without hyper-IgE syndrome.
Kreins AY, Ciancanelli MJ, Okada S, Kong XF, Ramírez-Alejo N, Kilic SS, El Baghdadi J, Nonoyama S, Mahdaviani SA, Ailal F, Bousfiha A, Mansouri D, Nievas E, Ma CS, Rao G, Bernasconi A, Sun Kuehn H, Niemela J, Stoddard J, Deveau P, Cobat A, El Azbaoui S, Sabri A, Lim CK, Sundin M, Avery DT, Halwani R, Grant AV, Boisson B, Bogunovic D, Itan Y, Moncada-Velez M, Martinez-Barricarte R, Migaud M, Deswarte C, Alsina L, Kotlarz D, Klein C, Muller-Fleckenstein I, Fleckenstein B, Cormier-Daire V, Rose-John S, Picard C, Hammarstrom L, Puel A, Al-Muhsen S, Abel L, Chaussabel D, Rosenzweig SD, Minegishi Y, Tangye SG, Bustamante J, Casanova JL, Boisson-Dupuis S. Kreins AY, et al. J Exp Med. 2015 Sep 21;212(10):1641-62. doi: 10.1084/jem.20140280. Epub 2015 Aug 24. J Exp Med. 2015. PMID: 26304966 Free PMC article.
The human gene damage index as a gene-level approach to prioritizing exome variants.
Itan Y, Shang L, Boisson B, Patin E, Bolze A, Moncada-Vélez M, Scott E, Ciancanelli MJ, Lafaille FG, Markle JG, Martinez-Barricarte R, de Jong SJ, Kong XF, Nitschke P, Belkadi A, Bustamante J, Puel A, Boisson-Dupuis S, Stenson PD, Gleeson JG, Cooper DN, Quintana-Murci L, Claverie JM, Zhang SY, Abel L, Casanova JL. Itan Y, et al. Proc Natl Acad Sci U S A. 2015 Nov 3;112(44):13615-20. doi: 10.1073/pnas.1518646112. Epub 2015 Oct 19. Proc Natl Acad Sci U S A. 2015. PMID: 26483451 Free PMC article.
The mutation significance cutoff: gene-level thresholds for variant predictions.
Itan Y, Shang L, Boisson B, Ciancanelli MJ, Markle JG, Martinez-Barricarte R, Scott E, Shah I, Stenson PD, Gleeson J, Cooper DN, Quintana-Murci L, Zhang SY, Abel L, Casanova JL. Itan Y, et al. Nat Methods. 2016 Feb;13(2):109-10. doi: 10.1038/nmeth.3739. Nat Methods. 2016. PMID: 26820543 Free PMC article. No abstract available.
54 results