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Items: 13

1.

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.

2.

KCTD7 deficiency defines a distinct neurodegenerative disorder with a conserved autophagy-lysosome defect.

Metz KA, Teng X, Coppens I, Lamb HM, Wagner BE, Rosenfeld JA, Chen X, Zhang Y, Kim HJ, Meadow ME, Wang TS, Haberlandt ED, Anderson GW, Leshinsky-Silver E, Bi W, Markello TC, Pratt M, Makhseed N, Garnica A, Danylchuk NR, Burrow TA, Jayakar P, McKnight D, Agadi S, Gbedawo H, Stanley C, Alber M, Prehl I, Peariso K, Ong MT, Mordekar SR, Parker MJ, Crooks D, Agrawal PB, Berry GT, Loddenkemper T, Yang Y, Maegawa GHB, Aouacheria A, Markle JG, Wohlschlegel JA, Hartman AL, Hardwick JM.

Ann Neurol. 2018 Nov;84(5):766-780. doi: 10.1002/ana.25351. Epub 2018 Nov 8.

3.

The human CIB1-EVER1-EVER2 complex governs keratinocyte-intrinsic immunity to β-papillomaviruses.

de Jong SJ, Créquer A, Matos I, Hum D, Gunasekharan V, Lorenzo L, Jabot-Hanin F, Imahorn E, Arias AA, Vahidnezhad H, Youssefian L, Markle JG, Patin E, D'Amico A, Wang CQF, Full F, Ensser A, Leisner TM, Parise LV, Bouaziz M, Maya NP, Cadena XR, Saka B, Saeidian AH, Aghazadeh N, Zeinali S, Itin P, Krueger JG, Laimins L, Abel L, Fuchs E, Uitto J, Franco JL, Burger B, Orth G, Jouanguy E, Casanova JL.

J Exp Med. 2018 Sep 3;215(9):2289-2310. doi: 10.1084/jem.20170308. Epub 2018 Aug 1.

4.

IRF4 haploinsufficiency in a family with Whipple's disease.

Guérin A, Kerner G, Marr N, Markle JG, Fenollar F, Wong N, Boughorbel S, Avery DT, Ma CS, Bougarn S, Bouaziz M, Béziat V, Della Mina E, Oleaga-Quintas C, Lazarov T, Worley L, Nguyen T, Patin E, Deswarte C, Martinez-Barricarte R, Boucherit S, Ayral X, Edouard S, Boisson-Dupuis S, Rattina V, Bigio B, Vogt G, Geissmann F, Quintana-Murci L, Chaussabel D, Tangye SG, Raoult D, Abel L, Bustamante J, Casanova JL.

Elife. 2018 Mar 14;7. pii: e32340. doi: 10.7554/eLife.32340.

5.

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.

Nat Methods. 2016 Feb;13(2):109-10. doi: 10.1038/nmeth.3739. No abstract available.

6.

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.

Proc Natl Acad Sci U S A. 2015 Nov 3;112(44):13615-20. doi: 10.1073/pnas.1518646112. Epub 2015 Oct 19.

7.

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.

Science. 2015 Aug 7;349(6248):606-613. doi: 10.1126/science.aaa4282. Epub 2015 Jul 9.

8.

Identification of the inflammasome Nlrp1b as the candidate gene conferring diabetes risk at the Idd4.1 locus in the nonobese diabetic mouse.

Motta VN, Markle JG, Gulban O, Mortin-Toth S, Liao KC, Mogridge J, Steward CA, Danska JS.

J Immunol. 2015 Jun 15;194(12):5663-73. doi: 10.4049/jimmunol.1400913. Epub 2015 May 11.

9.

Microbiome manipulation modifies sex-specific risk for autoimmunity.

Markle JG, Frank DN, Adeli K, von Bergen M, Danska JS.

Gut Microbes. 2014 Jul 1;5(4):485-93. doi: 10.4161/gmic.29795. Epub 2014 Jul 9.

PMID:
25007153
10.

SeXX matters in immunity.

Markle JG, Fish EN.

Trends Immunol. 2014 Mar;35(3):97-104. doi: 10.1016/j.it.2013.10.006. Epub 2013 Nov 13. Review.

PMID:
24239225
11.

γδ T cells are essential effectors of type 1 diabetes in the nonobese diabetic mouse model.

Markle JG, Mortin-Toth S, Wong AS, Geng L, Hayday A, Danska JS.

J Immunol. 2013 Jun 1;190(11):5392-401. doi: 10.4049/jimmunol.1203502. Epub 2013 Apr 26.

12.

Sex differences in the gut microbiome drive hormone-dependent regulation of autoimmunity.

Markle JG, Frank DN, Mortin-Toth S, Robertson CE, Feazel LM, Rolle-Kampczyk U, von Bergen M, McCoy KD, Macpherson AJ, Danska JS.

Science. 2013 Mar 1;339(6123):1084-8. doi: 10.1126/science.1233521. Epub 2013 Jan 17.

13.

Selective up-regulation of LXR-regulated genes ABCA1, ABCG1, and APOE in macrophages through increased endogenous synthesis of 24(S),25-epoxycholesterol.

Beyea MM, Heslop CL, Sawyez CG, Edwards JY, Markle JG, Hegele RA, Huff MW.

J Biol Chem. 2007 Feb 23;282(8):5207-16. Epub 2006 Dec 23.

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