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Items: 1 to 50 of 265

1.

The Pyrin Inflammasome in Health and Disease.

Schnappauf O, Chae JJ, Kastner DL, Aksentijevich I.

Front Immunol. 2019 Aug 7;10:1745. doi: 10.3389/fimmu.2019.01745. eCollection 2019. Review.

2.

Adaptation of Inhibition Mediates Retinal Sensitization.

Kastner DB, Ozuysal Y, Panagiotakos G, Baccus SA.

Curr Biol. 2019 Aug 19;29(16):2640-2651.e4. doi: 10.1016/j.cub.2019.06.081. Epub 2019 Aug 1.

PMID:
31378605
3.

Pseudodominance of autoinflammatory disease in a single Turkish family explained by co-inheritance of haploinsufficiency of A20 and familial Mediterranean fever.

Horita N, Gül A, Aksentijevich I, Kastner D, Remmers EF.

Clin Exp Rheumatol. 2019 Jul 15. [Epub ahead of print]

PMID:
31376265
4.

Partial Cone Loss Triggers Synapse-Specific Remodeling and Spatial Receptive Field Rearrangements in a Mature Retinal Circuit.

Care RA, Kastner DB, De la Huerta I, Pan S, Khoche A, Della Santina L, Gamlin C, Santo Tomas C, Ngo J, Chen A, Kuo YM, Ou Y, Dunn FA.

Cell Rep. 2019 May 14;27(7):2171-2183.e5. doi: 10.1016/j.celrep.2019.04.065.

5.

Classification criteria for autoinflammatory recurrent fevers.

Gattorno M, Hofer M, Federici S, Vanoni F, Bovis F, Aksentijevich I, Anton J, Arostegui JI, Barron K, Ben-Cherit E, Brogan PA, Cantarini L, Ceccherini I, De Benedetti F, Dedeoglu F, Demirkaya E, Frenkel J, Goldbach-Mansky R, Gul A, Hentgen V, Hoffman H, Kallinich T, Kone-Paut I, Kuemmerle-Deschner J, Lachmann HJ, Laxer RM, Livneh A, Obici L, Ozen S, Rowczenio D, Russo R, Shinar Y, Simon A, Toplak N, Touitou I, Uziel Y, van Gijn M, Foell D, Garassino C, Kastner D, Martini A, Sormani MP, Ruperto N; Eurofever Registry and the Paediatric Rheumatology International Trials Organisation (PRINTO).

Ann Rheum Dis. 2019 Aug;78(8):1025-1032. doi: 10.1136/annrheumdis-2019-215048. Epub 2019 Apr 24. Review.

PMID:
31018962
6.

Deficiency of adenosine deaminase 2 triggers adenosine-mediated NETosis and TNF production in patients with DADA2.

Carmona-Rivera C, Khaznadar SS, Shwin KW, Irizarry-Caro JA, O'Neil LJ, Liu Y, Jacobson KA, Ombrello AK, Stone DL, Tsai WL, Kastner DL, Aksentijevich I, Kaplan MJ, Grayson PC.

Blood. 2019 Jul 25;134(4):395-406. doi: 10.1182/blood.2018892752. Epub 2019 Apr 23.

PMID:
31015188
7.

Treatment Strategies for Deficiency of Adenosine Deaminase 2.

Ombrello AK, Qin J, Hoffmann PM, Kumar P, Stone D, Jones A, Romeo T, Barham B, Pinto-Patarroyo G, Toro C, Soldatos A, Zhou Q, Deuitch N, Aksentijevich I, Sheldon SL, Kelly S, Man A, Barron K, Hershfield M, Flegel WA, Kastner DL.

N Engl J Med. 2019 Apr 18;380(16):1582-1584. doi: 10.1056/NEJMc1801927. No abstract available.

PMID:
30995379
8.

Second Case of HOIP Deficiency Expands Clinical Features and Defines Inflammatory Transcriptome Regulated by LUBAC.

Oda H, Beck DB, Kuehn HS, Sampaio Moura N, Hoffmann P, Ibarra M, Stoddard J, Tsai WL, Gutierrez-Cruz G, Gadina M, Rosenzweig SD, Kastner DL, Notarangelo LD, Aksentijevich I.

Front Immunol. 2019 Mar 18;10:479. doi: 10.3389/fimmu.2019.00479. eCollection 2019.

9.

Engineering of serine protease for improved thermostability and catalytic activity using rational design.

Ashraf NM, Krishnagopal A, Hussain A, Kastner D, Sayed AMM, Mok YK, Swaminathan K, Zeeshan N.

Int J Biol Macromol. 2019 Apr 1;126:229-237. doi: 10.1016/j.ijbiomac.2018.12.218. Epub 2018 Dec 24.

PMID:
30590144
10.

The role of self-esteem in the treatment of patients with anorexia nervosa - A systematic review and meta-analysis.

Kästner D, Löwe B, Gumz A.

Int J Eat Disord. 2019 Feb;52(2):101-116. doi: 10.1002/eat.22975. Epub 2018 Nov 28.

PMID:
30488479
11.

Adaptive feature detection from differential processing in parallel retinal pathways.

Ozuysal Y, Kastner DB, Baccus SA.

PLoS Comput Biol. 2018 Nov 20;14(11):e1006560. doi: 10.1371/journal.pcbi.1006560. eCollection 2018 Nov.

12.

Inferring hidden structure in multilayered neural circuits.

Maheswaranathan N, Kastner DB, Baccus SA, Ganguli S.

PLoS Comput Biol. 2018 Aug 23;14(8):e1006291. doi: 10.1371/journal.pcbi.1006291. eCollection 2018 Aug.

13.

Dysregulated neutrophil responses and neutrophil extracellular trap formation and degradation in PAPA syndrome.

Mistry P, Carmona-Rivera C, Ombrello AK, Hoffmann P, Seto NL, Jones A, Stone DL, Naz F, Carlucci P, Dell'Orso S, Gutierrez-Cruz G, Sun HW, Kastner DL, Aksentijevich I, Kaplan MJ.

Ann Rheum Dis. 2018 Dec;77(12):1825-1833. doi: 10.1136/annrheumdis-2018-213746. Epub 2018 Aug 21.

PMID:
30131320
14.

Consensus proposal for taxonomy and definition of the autoinflammatory diseases (AIDs): a Delphi study.

Ben-Chetrit E, Gattorno M, Gul A, Kastner DL, Lachmann HJ, Touitou I, Ruperto N; Paediatric Rheumatology International Trials Organisation (PRINTO) and the AIDs Delphi study participants.

Ann Rheum Dis. 2018 Nov;77(11):1558-1565. doi: 10.1136/annrheumdis-2017-212515. Epub 2018 Aug 12. Review.

PMID:
30100561
15.

Brief Report: Whole-Exome Sequencing to Identify Rare Variants and Gene Networks That Increase Susceptibility to Scleroderma in African Americans.

Gourh P, Remmers EF, Boyden SE, Alexander T, Morgan ND, Shah AA, Mayes MD, Doumatey A, Bentley AR, Shriner D, Domsic RT, Medsger TA Jr, Steen VD, Ramos PS, Silver RM, Korman B, Varga J, Schiopu E, Khanna D, Hsu V, Gordon JK, Saketkoo LA, Gladue H, Kron B, Criswell LA, Derk CT, Bridges SL Jr, Shanmugam VK, Kolstad KD, Chung L, Jan R, Bernstein EJ, Goldberg A, Trojanowski M, Kafaja S, Maksimowicz-McKinnon KM, Mullikin JC, Adeyemo A, Rotimi C, Boin F, Kastner DL, Wigley FM.

Arthritis Rheumatol. 2018 Oct;70(10):1654-1660. doi: 10.1002/art.40541. Epub 2018 Aug 29.

PMID:
29732714
16.

Neurodegenerative diseases have genetic hallmarks of autoinflammatory disease.

Richards RI, Robertson SA, Kastner DL.

Hum Mol Genet. 2018 Aug 1;27(R2):R108-R118. doi: 10.1093/hmg/ddy139. Review.

17.

IL1RN Variation Influences Both Disease Susceptibility and Response to Recombinant Human Interleukin-1 Receptor Antagonist Therapy in Systemic Juvenile Idiopathic Arthritis.

Arthur VL, Shuldiner E, Remmers EF, Hinks A, Grom AA, Foell D, Martini A, Gattorno M, Özen S, Prahalad S, Zeft AS, Bohnsack JF, Ilowite NT, Mellins ED, Russo R, Len C, Oliveira S, Yeung RSM, Rosenberg AM, Wedderburn LR, Anton J, Haas JP, Rösen-Wolff A, Minden K, Szymanski AM; INCHARGE Consortium, Thomson W, Kastner DL, Woo P, Ombrello MJ.

Arthritis Rheumatol. 2018 Aug;70(8):1319-1330. doi: 10.1002/art.40498. Epub 2018 Jun 28.

18.

Clinical and serological features of systemic sclerosis in a multicenter African American cohort: Analysis of the genome research in African American scleroderma patients clinical database.

Morgan ND, Shah AA, Mayes MD, Domsic RT, Medsger TA Jr, Steen VD, Varga J, Carns M, Ramos PS, Silver RM, Schiopu E, Khanna D, Hsu V, Gordon JK, Gladue H, Saketkoo LA, Criswell LA, Derk CT, Trojanowski MA, Shanmugam VK, Chung L, Valenzuela A, Jan R, Goldberg A, Remmers EF, Kastner DL, Wigley FM, Gourh P, Boin F.

Medicine (Baltimore). 2017 Dec;96(51):e8980. doi: 10.1097/MD.0000000000008980.

19.

Aberrant tRNA processing causes an autoinflammatory syndrome responsive to TNF inhibitors.

Giannelou A, Wang H, Zhou Q, Park YH, Abu-Asab MS, Ylaya K, Stone DL, Sediva A, Sleiman R, Sramkova L, Bhatla D, Serti E, Tsai WL, Yang D, Bishop K, Carrington B, Pei W, Deuitch N, Brooks S, Edwan JH, Joshi S, Prader S, Kaiser D, Owen WC, Sonbul AA, Zhang Y, Niemela JE, Burgess SM, Boehm M, Rehermann B, Chae J, Quezado MM, Ombrello AK, Buckley RH, Grom AA, Remmers EF, Pachlopnik JM, Su HC, Gutierrez-Cruz G, Hewitt SM, Sood R, Risma K, Calvo KR, Rosenzweig SD, Gadina M, Hafner M, Sun HW, Kastner DL, Aksentijevich I.

Ann Rheum Dis. 2018 Apr;77(4):612-619. doi: 10.1136/annrheumdis-2017-212401. Epub 2018 Jan 22.

20.

Factors influencing the length of hospital stay of patients with anorexia nervosa - results of a prospective multi-center study.

Kästner D, Löwe B, Weigel A, Osen B, Voderholzer U, Gumz A.

BMC Health Serv Res. 2018 Jan 15;18(1):22. doi: 10.1186/s12913-017-2800-4.

21.

A20 haploinsufficiency (HA20): clinical phenotypes and disease course of patients with a newly recognised NF-kB-mediated autoinflammatory disease.

Aeschlimann FA, Batu ED, Canna SW, Go E, Gül A, Hoffmann P, Leavis HL, Ozen S, Schwartz DM, Stone DL, van Royen-Kerkof A, Kastner DL, Aksentijevich I, Laxer RM.

Ann Rheum Dis. 2018 May;77(5):728-735. doi: 10.1136/annrheumdis-2017-212403. Epub 2018 Jan 9.

PMID:
29317407
22.

Corrigendum: The monogenic autoinflammatory diseases define new pathways in human innate immunity and inflammation.

Manthiram K, Zhou Q, Aksentijevich I, Kastner DL.

Nat Immunol. 2017 Oct 18;18(11):1271. doi: 10.1038/ni1117-1271a.

PMID:
29044244
23.

Bulky Dehydroamino Acids Enhance Proteolytic Stability and Folding in β-Hairpin Peptides.

Jalan A, Kastner DW, Webber KGI, Smith MS, Price JL, Castle SL.

Org Lett. 2017 Oct 6;19(19):5190-5193. doi: 10.1021/acs.orglett.7b02455. Epub 2017 Sep 14.

24.

NLRP3 mutation and cochlear autoinflammation cause syndromic and nonsyndromic hearing loss DFNA34 responsive to anakinra therapy.

Nakanishi H, Kawashima Y, Kurima K, Chae JJ, Ross AM, Pinto-Patarroyo G, Patel SK, Muskett JA, Ratay JS, Chattaraj P, Park YH, Grevich S, Brewer CC, Hoa M, Kim HJ, Butman JA, Broderick L, Hoffman HM, Aksentijevich I, Kastner DL, Goldbach-Mansky R, Griffith AJ.

Proc Natl Acad Sci U S A. 2017 Sep 12;114(37):E7766-E7775. doi: 10.1073/pnas.1702946114. Epub 2017 Aug 28.

25.

A bottom-up approach to assess verbal therapeutic techniques. Development of the Psychodynamic Interventions List (PIL).

Gumz A, Neubauer K, Horstkotte JK, Geyer M, Löwe B, Murray AM, Kästner D.

PLoS One. 2017 Aug 24;12(8):e0182949. doi: 10.1371/journal.pone.0182949. eCollection 2017.

26.

Potential involvement of mi-RNA 574-3p in progression of prostate cancer: A bioinformatic study.

Ashraf NM, Imran K, Kastner DW, Ikram K, Mushtaq A, Hussain A, Zeeshan N.

Mol Cell Probes. 2017 Dec;36:21-28. doi: 10.1016/j.mcp.2017.07.002. Epub 2017 Jul 19.

PMID:
28734841
27.

The monogenic autoinflammatory diseases define new pathways in human innate immunity and inflammation.

Manthiram K, Zhou Q, Aksentijevich I, Kastner DL.

Nat Immunol. 2017 Jul 19;18(8):832-842. doi: 10.1038/ni.3777. Review. Erratum in: Nat Immunol. 2017 Oct 18;18(11):1271.

PMID:
28722725
28.

A guiding map for inflammation.

Netea MG, Balkwill F, Chonchol M, Cominelli F, Donath MY, Giamarellos-Bourboulis EJ, Golenbock D, Gresnigt MS, Heneka MT, Hoffman HM, Hotchkiss R, Joosten LAB, Kastner DL, Korte M, Latz E, Libby P, Mandrup-Poulsen T, Mantovani A, Mills KHG, Nowak KL, O'Neill LA, Pickkers P, van der Poll T, Ridker PM, Schalkwijk J, Schwartz DA, Siegmund B, Steer CJ, Tilg H, van der Meer JWM, van de Veerdonk FL, Dinarello CA.

Nat Immunol. 2017 Jul 19;18(8):826-831. doi: 10.1038/ni.3790.

29.

Genomics, Biology, and Human Illness: Advances in the Monogenic Autoinflammatory Diseases.

Oda H, Kastner DL.

Rheum Dis Clin North Am. 2017 Aug;43(3):327-345. doi: 10.1016/j.rdc.2017.04.011. Review.

30.

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.

Arthritis Rheumatol. 2017 Sep;69(9):1832-1839. doi: 10.1002/art.40158. Epub 2017 Jul 10.

31.

Dense genotyping of immune-related loci implicates host responses to microbial exposure in Behçet's disease susceptibility.

Takeuchi M, Mizuki N, Meguro A, Ombrello MJ, Kirino Y, Satorius C, Le J, Blake M, Erer B, Kawagoe T, Ustek D, Tugal-Tutkun I, Seyahi E, Ozyazgan Y, Sousa I, Davatchi F, Francisco V, Shahram F, Abdollahi BS, Nadji A, Shafiee NM, Ghaderibarmi F, Ohno S, Ueda A, Ishigatsubo Y, Gadina M, Oliveira SA, Gül A, Kastner DL, Remmers EF.

Nat Genet. 2017 Mar;49(3):438-443. doi: 10.1038/ng.3786. Epub 2017 Feb 6.

32.

Genetic architecture distinguishes systemic juvenile idiopathic arthritis from other forms of juvenile idiopathic arthritis: clinical and therapeutic implications.

Ombrello MJ, Arthur VL, Remmers EF, Hinks A, Tachmazidou I, Grom AA, Foell D, Martini A, Gattorno M, Özen S, Prahalad S, Zeft AS, Bohnsack JF, Ilowite NT, Mellins ED, Russo R, Len C, Hilario MO, Oliveira S, Yeung RS, Rosenberg AM, Wedderburn LR, Anton J, Haas JP, Rosen-Wolff A, Minden K, Tenbrock K, Demirkaya E, Cobb J, Baskin E, Signa S, Shuldiner E, Duerr RH, Achkar JP, Kamboh MI, Kaufman KM, Kottyan LC, Pinto D, Scherer SW, Alarcón-Riquelme ME, Docampo E, Estivill X, Gül A; British Society of Pediatric and Adolescent Rheumatology (BSPAR) Study Group, Inception Cohort of Newly Diagnosed Patients with Juvenile Idiopathic Arthritis (ICON-JIA) Study Group, Childhood Arthritis Prospective Study (CAPS) Group, Randomized Placebo Phase Study of Rilonacept in sJIA (RAPPORT) Investigators, Sparks-Childhood Arthritis Response to Medication Study (CHARMS) Group, Biologically Based Outcome Predictors in JIA (BBOP) Group, Langefeld CD, Thompson S, Zeggini E, Kastner DL, Woo P, Thomson W.

Ann Rheum Dis. 2017 May;76(5):906-913. doi: 10.1136/annrheumdis-2016-210324. Epub 2016 Dec 7.

33.

The change process in adult anorexia nervosa inpatient treatment: a path model.

Gumz A, Kästner D, Weigel A, Daubmann A, Osen B, Karacic M, Wollburg E, Voderholzer U, Löwe B.

Eat Weight Disord. 2018 Jun;23(3):313-320. doi: 10.1007/s40519-016-0341-1. Epub 2016 Nov 8.

PMID:
27826742
34.

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.

Genes Immun. 2016 Dec;17(7):396-399. doi: 10.1038/gene.2016.36. Epub 2016 Oct 6.

35.

The Yersinia Virulence Factor YopM Hijacks Host Kinases to Inhibit Type III Effector-Triggered Activation of the Pyrin Inflammasome.

Chung LK, Park YH, Zheng Y, Brodsky IE, Hearing P, Kastner DL, Chae JJ, Bliska JB.

Cell Host Microbe. 2016 Sep 14;20(3):296-306. doi: 10.1016/j.chom.2016.07.018. Epub 2016 Aug 25.

36.

Biallelic hypomorphic mutations in a linear deubiquitinase define otulipenia, an early-onset autoinflammatory disease.

Zhou Q, Yu X, Demirkaya E, Deuitch N, Stone D, Tsai WL, Kuehn HS, Wang H, Yang D, Park YH, Ombrello AK, Blake M, Romeo T, Remmers EF, Chae JJ, Mullikin JC, Güzel F, Milner JD, Boehm M, Rosenzweig SD, Gadina M, Welch SB, Özen S, Topaloglu R, Abinun M, Kastner DL, Aksentijevich I.

Proc Natl Acad Sci U S A. 2016 Sep 6;113(36):10127-32. doi: 10.1073/pnas.1612594113. Epub 2016 Aug 24.

37.

Hypophosphatasia and the risk of atypical femur fractures: a case-control study.

Bhattacharyya T, Jha S, Wang H, Kastner DL, Remmers EF.

BMC Musculoskelet Disord. 2016 Aug 9;17:332. doi: 10.1186/s12891-016-1191-8.

38.

Old Dogs, New Tricks: Monogenic Autoinflammatory Disease Unleashed.

Stoffels M, Kastner DL.

Annu Rev Genomics Hum Genet. 2016 Aug 31;17:245-72. doi: 10.1146/annurev-genom-090413-025334. Epub 2016 Jun 2. Review.

PMID:
27362340
39.

Pyrin inflammasome activation and RhoA signaling in the autoinflammatory diseases FMF and HIDS.

Park YH, Wood G, Kastner DL, Chae JJ.

Nat Immunol. 2016 Aug;17(8):914-21. doi: 10.1038/ni.3457. Epub 2016 Jun 6.

40.

Control of the innate immune response by the mevalonate pathway.

Akula MK, Shi M, Jiang Z, Foster CE, Miao D, Li AS, Zhang X, Gavin RM, Forde SD, Germain G, Carpenter S, Rosadini CV, Gritsman K, Chae JJ, Hampton R, Silverman N, Gravallese EM, Kagan JC, Fitzgerald KA, Kastner DL, Golenbock DT, Bergo MO, Wang D.

Nat Immunol. 2016 Aug;17(8):922-9. doi: 10.1038/ni.3487. Epub 2016 Jun 6.

41.

A Model of Synaptic Reconsolidation.

Kastner DB, Schwalger T, Ziegler L, Gerstner W.

Front Neurosci. 2016 May 18;10:206. doi: 10.3389/fnins.2016.00206. eCollection 2016.

42.

A single endoplasmic reticulum aminopeptidase-1 protein allotype is a strong risk factor for Behçet's disease in HLA-B*51 carriers.

Takeuchi M, Ombrello MJ, Kirino Y, Erer B, Tugal-Tutkun I, Seyahi E, Özyazgan Y, Watts NR, Gül A, Kastner DL, Remmers EF.

Ann Rheum Dis. 2016 Dec;75(12):2208-2211. doi: 10.1136/annrheumdis-2015-209059. Epub 2016 May 23.

43.

Hospital utilization outcome of an assertive outreach model for schizophrenic patients - results of a quasi-experimental study.

Büchtemann D, Kästner D, Warnke I, Radisch J, Baumgardt J, Giersberg S, Kleine-Budde K, Moock J, Kawohl W, Rössler W.

Psychiatry Res. 2016 Jul 30;241:249-55. doi: 10.1016/j.psychres.2016.05.012. Epub 2016 May 10.

PMID:
27208511
44.

Vibratory Urticaria Associated with a Missense Variant in ADGRE2.

Boyden SE, Desai A, Cruse G, Young ML, Bolan HC, Scott LM, Eisch AR, Long RD, Lee CC, Satorius CL, Pakstis AJ, Olivera A, Mullikin JC, Chouery E, Mégarbané A, Medlej-Hashim M, Kidd KK, Kastner DL, Metcalfe DD, Komarow HD.

N Engl J Med. 2016 Feb 18;374(7):656-63. doi: 10.1056/NEJMoa1500611. Epub 2016 Feb 3.

45.

Additive loss-of-function proteasome subunit mutations in CANDLE/PRAAS patients promote type I IFN production.

Brehm A, Liu Y, Sheikh A, Marrero B, Omoyinmi E, Zhou Q, Montealegre G, Biancotto A, Reinhardt A, de Jesus AA, Pelletier M, Tsai WL, Remmers EF, Kardava L, Hill S, Kim H, Lachmann HJ, Megarbane A, Chae JJ, Brady J, Castillo RD, Brown D, Casano AV, Gao L, Chapelle D, Huang Y, Stone D, Chen Y, Sotzny F, Lee CC, Kastner DL, Torrelo A, Zlotogorski A, Moir S, Gadina M, McCoy P, Wesley R, Rother KI, Hildebrand PW, Brogan P, Krüger E, Aksentijevich I, Goldbach-Mansky R.

J Clin Invest. 2016 Feb;126(2):795. doi: 10.1172/JCI86020. Epub 2016 Feb 1. No abstract available.

46.

EULAR recommendations for the management of familial Mediterranean fever.

Ozen S, Demirkaya E, Erer B, Livneh A, Ben-Chetrit E, Giancane G, Ozdogan H, Abu I, Gattorno M, Hawkins PN, Yuce S, Kallinich T, Bilginer Y, Kastner D, Carmona L.

Ann Rheum Dis. 2016 Apr;75(4):644-51. doi: 10.1136/annrheumdis-2015-208690. Epub 2016 Jan 22.

47.

Loss-of-function mutations in TNFAIP3 leading to A20 haploinsufficiency cause an early-onset autoinflammatory disease.

Zhou Q, Wang H, Schwartz DM, Stoffels M, Park YH, Zhang Y, Yang D, Demirkaya E, Takeuchi M, Tsai WL, Lyons JJ, Yu X, Ouyang C, Chen C, Chin DT, Zaal K, Chandrasekharappa SC, P Hanson E, Yu Z, Mullikin JC, Hasni SA, Wertz IE, Ombrello AK, Stone DL, Hoffmann P, Jones A, Barham BK, Leavis HL, van Royen-Kerkof A, Sibley C, Batu ED, Gül A, Siegel RM, Boehm M, Milner JD, Ozen S, Gadina M, Chae J, Laxer RM, Kastner DL, Aksentijevich I.

Nat Genet. 2016 Jan;48(1):67-73. doi: 10.1038/ng.3459. Epub 2015 Dec 7.

48.

HLA-DRB1*11 and variants of the MHC class II locus are strong risk factors for systemic juvenile idiopathic arthritis.

Ombrello MJ, Remmers EF, Tachmazidou I, Grom A, Foell D, Haas JP, Martini A, Gattorno M, Özen S, Prahalad S, Zeft AS, Bohnsack JF, Mellins ED, Ilowite NT, Russo R, Len C, Hilario MO, Oliveira S, Yeung RS, Rosenberg A, Wedderburn LR, Anton J, Schwarz T, Hinks A, Bilginer Y, Park J, Cobb J, Satorius CL, Han B, Baskin E, Signa S, Duerr RH, Achkar JP, Kamboh MI, Kaufman KM, Kottyan LC, Pinto D, Scherer SW, Alarcón-Riquelme ME, Docampo E, Estivill X, Gül A; British Society of Pediatric and Adolescent Rheumatology (BSPAR) Study Group; Childhood Arthritis Prospective Study (CAPS) Group; Randomized Placebo Phase Study of Rilonacept in sJIA (RAPPORT) Investigators; Sparks-Childhood Arthritis Response to Medication Study (CHARMS) Group; Biologically Based Outcome Predictors in JIA (BBOP) Group, de Bakker PI, Raychaudhuri S, Langefeld CD, Thompson S, Zeggini E, Thomson W, Kastner DL, Woo P; International Childhood Arthritis Genetics (INCHARGE) Consortium.

Proc Natl Acad Sci U S A. 2015 Dec 29;112(52):15970-5. doi: 10.1073/pnas.1520779112. Epub 2015 Nov 23.

49.

Additive loss-of-function proteasome subunit mutations in CANDLE/PRAAS patients promote type I IFN production.

Brehm A, Liu Y, Sheikh A, Marrero B, Omoyinmi E, Zhou Q, Montealegre G, Biancotto A, Reinhardt A, Almeida de Jesus A, Pelletier M, Tsai WL, Remmers EF, Kardava L, Hill S, Kim H, Lachmann HJ, Megarbane A, Chae JJ, Brady J, Castillo RD, Brown D, Casano AV, Gao L, Chapelle D, Huang Y, Stone D, Chen Y, Sotzny F, Lee CC, Kastner DL, Torrelo A, Zlotogorski A, Moir S, Gadina M, McCoy P, Wesley R, Rother KI, Hildebrand PW, Brogan P, Krüger E, Aksentijevich I, Goldbach-Mansky R.

J Clin Invest. 2015 Nov 2;125(11):4196-211. doi: 10.1172/JCI81260. Epub 2015 Oct 20. Erratum in: J Clin Invest. 2016 Feb;126(2):795. Rother, Kristina [corrected to Rother, Kristina I].

50.

The immunogenetics of Behçet's disease: A comprehensive review.

Takeuchi M, Kastner DL, Remmers EF.

J Autoimmun. 2015 Nov;64:137-48. doi: 10.1016/j.jaut.2015.08.013. Epub 2015 Sep 5. Review.

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