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HOIL and water: the two faces of HOIL-1 deficiency.
Ombrello MJ, Kastner DL, Milner JD. Ombrello MJ, et al. Nat Immunol. 2012 Dec;13(12):1133-5. doi: 10.1038/ni.2471. Nat Immunol. 2012. PMID: 23160206 No abstract available.
A hypermorphic missense mutation in PLCG2, encoding phospholipase Cγ2, causes a dominantly inherited autoinflammatory disease with immunodeficiency.
Zhou Q, Lee GS, Brady J, Datta S, Katan M, Sheikh A, Martins MS, Bunney TD, Santich BH, Moir S, Kuhns DB, Long Priel DA, Ombrello A, Stone D, Ombrello MJ, Khan J, Milner JD, Kastner DL, Aksentijevich I. Zhou Q, et al. Among authors: ombrello mj, ombrello a. Am J Hum Genet. 2012 Oct 5;91(4):713-20. doi: 10.1016/j.ajhg.2012.08.006. Epub 2012 Sep 20. Am J Hum Genet. 2012. PMID: 23000145 Free PMC article.
Genome-wide association study identifies variants in the MHC class I, IL10, and IL23R-IL12RB2 regions associated with Behçet's disease.
Remmers EF, Cosan F, Kirino Y, Ombrello MJ, Abaci N, Satorius C, Le JM, Yang B, Korman BD, Cakiris A, Aglar O, Emrence Z, Azakli H, Ustek D, Tugal-Tutkun I, Akman-Demir G, Chen W, Amos CI, Dizon MB, Kose AA, Azizlerli G, Erer B, Brand OJ, Kaklamani VG, Kaklamanis P, Ben-Chetrit E, Stanford M, Fortune F, Ghabra M, Ollier WE, Cho YH, Bang D, O'Shea J, Wallace GR, Gadina M, Kastner DL, Gül A. Remmers EF, et al. Among authors: ombrello mj. Nat Genet. 2010 Aug;42(8):698-702. doi: 10.1038/ng.625. Epub 2010 Jul 11. Nat Genet. 2010. PMID: 20622878 Free PMC article.
Using genes to triangulate the pathophysiology of granulomatous autoinflammatory disease: NOD2, PLCG2 and LACC1.
Szymanski AM, Ombrello MJ. Szymanski AM, et al. Among authors: ombrello mj. Int Immunol. 2018 Apr 25;30(5):205-213. doi: 10.1093/intimm/dxy021. Int Immunol. 2018. PMID: 29538758 Free PMC article. Review.
Distinct Cutaneous Manifestations and Cold-Induced Leukocyte Activation Associated With PLCG2 Mutations.
Aderibigbe OM, Priel DL, Lee CC, Ombrello MJ, Prajapati VH, Liang MG, Lyons JJ, Kuhns DB, Cowen EW, Milner JD. Aderibigbe OM, et al. Among authors: ombrello mj. JAMA Dermatol. 2015 Jun;151(6):627-34. doi: 10.1001/jamadermatol.2014.5641. JAMA Dermatol. 2015. PMID: 25760457 Free PMC article.
Advances in the genetically complex autoinflammatory diseases.
Ombrello MJ. Ombrello MJ. Semin Immunopathol. 2015 Jul;37(4):403-6. doi: 10.1007/s00281-015-0498-0. Epub 2015 Jun 16. Semin Immunopathol. 2015. PMID: 26077134 Free PMC article. Review.
Evaluation of KIR3DL1/KIR3DS1 polymorphism in Behçet's disease.
Erer B, Takeuchi M, Ustek D, Tugal-Tutkun I, Seyahi E, Özyazgan Y, Duymaz-Tozkir J, Gül A, Kastner DL, Remmers EF, Ombrello MJ. Erer B, et al. Among authors: ombrello mj. Genes Immun. 2016 Dec;17(7):396-399. doi: 10.1038/gene.2016.36. Epub 2016 Oct 6. Genes Immun. 2016. PMID: 27708262 Free PMC article.
Distinct transcriptome profiles differentiate nonsteroidal anti-inflammatory drug-dependent from nonsteroidal anti-inflammatory drug-independent food-induced anaphylaxis.
Muñoz-Cano R, Pascal M, Bartra J, Picado C, Valero A, Kim DK, Brooks S, Ombrello M, Metcalfe DD, Rivera J, Olivera A. Muñoz-Cano R, et al. J Allergy Clin Immunol. 2016 Jan;137(1):137-146. doi: 10.1016/j.jaci.2015.05.042. Epub 2015 Jul 17. J Allergy Clin Immunol. 2016. PMID: 26194548 Free PMC article.
Autoinflammation in 2010: expanding clinical spectrum and broadening therapeutic horizons.
Ombrello MJ, Kastner DL. Ombrello MJ, et al. Nat Rev Rheumatol. 2011 Feb;7(2):82-4. doi: 10.1038/nrrheum.2010.229. Nat Rev Rheumatol. 2011. PMID: 21289614 Free PMC article. Review.
Brief Report: Deficiency of Complement 1r Subcomponent in Early-Onset Systemic Lupus Erythematosus: The Role of Disease-Modifying Alleles in a Monogenic Disease.
Demirkaya E, Zhou Q, Smith CK, Ombrello MJ, Deuitch N, Tsai WL, Hoffmann P, Remmers EF, Takeuchi M, Park YH, Chae J, Barut K, Simsek D, Adrovic A, Sahin S, Caliskan S, Chandrasekharappa SC, Hasni SA, Ombrello AK, Gadina M, Kastner DL, Kaplan MJ, Kasapcopur O, Aksentijevich I. Demirkaya E, et al. Among authors: ombrello mj. Arthritis Rheumatol. 2017 Sep;69(9):1832-1839. doi: 10.1002/art.40158. Epub 2017 Jul 10. Arthritis Rheumatol. 2017. PMID: 28544690 Free PMC article.
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