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Items: 13

1.

Homozygosity for TYK2 P1104A underlies tuberculosis in about 1% of patients in a cohort of European ancestry.

Kerner G, Ramirez-Alejo N, Seeleuthner Y, Yang R, Ogishi M, Cobat A, Patin E, Quintana-Murci L, Boisson-Dupuis S, Casanova JL, Abel L.

Proc Natl Acad Sci U S A. 2019 May 21;116(21):10430-10434. doi: 10.1073/pnas.1903561116. Epub 2019 May 8.

2.

Tuberculosis and impaired IL-23-dependent IFN-γ immunity in humans homozygous for a common TYK2 missense variant.

Boisson-Dupuis S, Ramirez-Alejo N, Li Z, Patin E, Rao G, Kerner G, Lim CK, Krementsov DN, Hernandez N, Ma CS, Zhang Q, Markle J, Martinez-Barricarte R, Payne K, Fisch R, Deswarte C, Halpern J, Bouaziz M, Mulwa J, Sivanesan D, Lazarov T, Naves R, Garcia P, Itan Y, Boisson B, Checchi A, Jabot-Hanin F, Cobat A, Guennoun A, Jackson CC, Pekcan S, Caliskaner Z, Inostroza J, Costa-Carvalho BT, de Albuquerque JAT, Garcia-Ortiz H, Orozco L, Ozcelik T, Abid A, Rhorfi IA, Souhi H, Amrani HN, Zegmout A, Geissmann F, Michnick SW, Muller-Fleckenstein I, Fleckenstein B, Puel A, Ciancanelli MJ, Marr N, Abolhassani H, Balcells ME, Condino-Neto A, Strickler A, Abarca K, Teuscher C, Ochs HD, Reisli I, Sayar EH, El-Baghdadi J, Bustamante J, Hammarström L, Tangye SG, Pellegrini S, Quintana-Murci L, Abel L, Casanova JL.

Sci Immunol. 2018 Dec 21;3(30). pii: eaau8714. doi: 10.1126/sciimmunol.aau8714.

3.

Human IFN-γ immunity to mycobacteria is governed by both IL-12 and IL-23.

Martínez-Barricarte R, Markle JG, Ma CS, Deenick EK, Ramírez-Alejo N, Mele F, Latorre D, Mahdaviani SA, Aytekin C, Mansouri D, Bryant VL, Jabot-Hanin F, Deswarte C, Nieto-Patlán A, Surace L, Kerner G, Itan Y, Jovic S, Avery DT, Wong N, Rao G, Patin E, Okada S, Bigio B, Boisson B, Rapaport F, Seeleuthner Y, Schmidt M, Ikinciogullari A, Dogu F, Tanir G, Tabarsi P, Bloursaz MR, Joseph JK, Heer A, Kong XF, Migaud M, Lazarov T, Geissmann F, Fleckenstein B, Arlehamn CL, Sette A, Puel A, Emile JF, van de Vosse E, Quintana-Murci L, Di Santo JP, Abel L, Boisson-Dupuis S, Bustamante J, Tangye SG, Sallusto F, Casanova JL.

Sci Immunol. 2018 Dec 21;3(30). pii: eaau6759. doi: 10.1126/sciimmunol.aau6759.

4.

Mendelian susceptibility to mycobacterial disease: 2014-2018 update.

Rosain J, Kong XF, Martinez-Barricarte R, Oleaga-Quintas C, Ramirez-Alejo N, Markle J, Okada S, Boisson-Dupuis S, Casanova JL, Bustamante J.

Immunol Cell Biol. 2019 Apr;97(4):360-367. doi: 10.1111/imcb.12210. Epub 2018 Oct 25. Review.

PMID:
30264912
5.

Hemophagocytic Lymphohistiocytosis as a Complication in Patients with MSMD.

Muriel-Vizcaino R, Yamazaki-Nakashimada M, López-Herrera G, Santos-Argumedo L, Ramírez-Alejo N.

J Clin Immunol. 2016 Jul;36(5):420-2. doi: 10.1007/s10875-016-0292-3. Epub 2016 May 4. No abstract available.

PMID:
27146670
6.

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.

J Exp Med. 2015 Sep 21;212(10):1641-62. doi: 10.1084/jem.20140280. Epub 2015 Aug 24.

7.

Novel hypomorphic mutation in IKBKG impairs NEMO-ubiquitylation causing ectodermal dysplasia, immunodeficiency, incontinentia pigmenti, and immune thrombocytopenic purpura.

Ramírez-Alejo N, Alcántara-Montiel JC, Yamazaki-Nakashimada M, Duran-McKinster C, Valenzuela-León P, Rivas-Larrauri F, Cedillo-Barrón L, Hernández-Rivas R, Santos-Argumedo L.

Clin Immunol. 2015 Oct;160(2):163-71. doi: 10.1016/j.clim.2015.06.007. Epub 2015 Jun 24.

PMID:
26117626
8.

Successful adjunctive immunoglobulin treatment in patients affected by leukocyte adhesion deficiency type 1 (LAD-1).

Yamazaki-Nakashimada M, Maravillas-Montero JL, Berrón-Ruiz L, López-Ortega O, Ramírez-Alejo N, Acevedo-Ochoa E, Rivas-Larrauri F, Llamas-Guillén B, Blancas-Galicia L, Scheffler-Mendoza S, Olaya-Vargas A, Santos-Argumedo L.

Immunol Res. 2015 Mar;61(3):260-8. doi: 10.1007/s12026-014-8619-8.

PMID:
25527966
9.

Innate defects of the IL-12/IFN-γ axis in susceptibility to infections by mycobacteria and salmonella.

Ramirez-Alejo N, Santos-Argumedo L.

J Interferon Cytokine Res. 2014 May;34(5):307-17. doi: 10.1089/jir.2013.0050. Epub 2013 Dec 20. Review.

10.

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.

Blood. 2013 Oct 3;122(14):2390-401. doi: 10.1182/blood-2013-01-480814. Epub 2013 Aug 20. Erratum in: Blood. 2014 Mar 6;123(10):1622.

11.

Molecular analysis for patients with IL-12 receptor β1 deficiency.

Ramirez-Alejo N, Blancas-Galicia L, Yamazaki-Nakashimada M, García-Rodríguez SE, Rivas-Larrauri F, Paolo-Cienfuegos DP, Alcantara-Salinas A, Espinosa-Rosales F, Santos-Argumedo L.

Clin Genet. 2014 Aug;86(2):161-6. doi: 10.1111/cge.12253. Epub 2013 Sep 11.

PMID:
23952477
12.

IL-12Rβ1 deficiency: mutation update and description of the IL12RB1 variation database.

van de Vosse E, Haverkamp MH, Ramirez-Alejo N, Martinez-Gallo M, Blancas-Galicia L, Metin A, Garty BZ, Sun-Tan Ç, Broides A, de Paus RA, Keskin Ö, Çağdaş D, Tezcan I, Lopez-Ruzafa E, Aróstegui JI, Levy J, Espinosa-Rosales FJ, Sanal Ö, Santos-Argumedo L, Casanova JL, Boisson-Dupuis S, van Dissel JT, Bustamante J.

Hum Mutat. 2013 Oct;34(10):1329-39. doi: 10.1002/humu.22380. Epub 2013 Aug 8. Review.

13.

[Disseminated Tuberculosis in an Infant with IFNg-IL-12/IL 23 Axis Defect].

Sandoval-Ramìrez E, Pietropaolo-Cienfuegos DR, Zamora-Chávez A, Ramírez-Alejo N, Santos-Argumedo L, Blancas-Galicia L, Del-Río-Navarro BE.

Rev Alerg Mex. 2012 Apr-Jun;59(2):86-92. Spanish.

PMID:
24007964

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