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Items: 1 to 50 of 151

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.

Adenosine Deaminase 2 Deficiency.

Aksentijevich I, Sampaio Moura N, Barron K.

In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2019.
2019 Aug 8.

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.

The use of leukocytes' secretome to individually target biological therapy in autoimmune arthritis: a case report.

Poubelle PE, Pagé N, Longchamps MP, Sampaio Moura N, Beck DB, Aksentijevich I, Tessier PA, Pelletier M.

Clin Transl Med. 2019 Jun 5;8(1):19. doi: 10.1186/s40169-019-0236-7.

5.

Disease course and treatment effects of a JAK inhibitor in a patient with CANDLE syndrome.

Boyadzhiev M, Marinov L, Boyadzhiev V, Iotova V, Aksentijevich I, Hambleton S.

Pediatr Rheumatol Online J. 2019 May 2;17(1):19. doi: 10.1186/s12969-019-0322-9.

6.

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
7.

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
8.

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
9.

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.

10.

Biochemistry of Autoinflammatory Diseases: Catalyzing Monogenic Disease.

Beck DB, Aksentijevich I.

Front Immunol. 2019 Jan 31;10:101. doi: 10.3389/fimmu.2019.00101. eCollection 2019. Review.

11.

Human adenosine deaminase 2 deficiency: A multi-faceted inborn error of immunity.

Moens L, Hershfield M, Arts K, Aksentijevich I, Meyts I.

Immunol Rev. 2019 Jan;287(1):62-72. doi: 10.1111/imr.12722. Review.

PMID:
30565235
12.

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
13.

Detection of a novel mutation in NLRP3/CIAS1 gene in an Indian child with Neonatal-Onset Multisystem Inflammatory Disease (NOMID).

Nair SB, Chavan PP, Athalye AS, Aksentijevich I, Khubchandani RP.

Clin Rheumatol. 2019 Feb;38(2):403-406. doi: 10.1007/s10067-018-4225-9. Epub 2018 Jul 31.

PMID:
30066283
14.

Deficiency of Adenosine Deaminase 2 in Adult Siblings: Many Years of a Misdiagnosed Disease With Severe Consequences.

Springer JM, Gierer SA, Jiang H, Kleiner D, Deuitch N, Ombrello AK, Grayson PC, Aksentijevich I.

Front Immunol. 2018 Jun 14;9:1361. doi: 10.3389/fimmu.2018.01361. eCollection 2018.

15.

Deficiency of Adenosine Deaminase 2 (DADA2): Updates on the Phenotype, Genetics, Pathogenesis, and Treatment.

Meyts I, Aksentijevich I.

J Clin Immunol. 2018 Jul;38(5):569-578. doi: 10.1007/s10875-018-0525-8. Epub 2018 Jun 27. Review.

16.

Disrupted N-linked glycosylation as a disease mechanism in deficiency of ADA2.

Lee PY, Huang Y, Zhou Q, Schnappauf O, Hershfield MS, Li Y, Ganson NJ, Sampaio Moura N, Delmonte OM, Stone SS, Rivkin MJ, Pai SY, Lyons T, Sundel RP, Hsu VW, Notarangelo LD, Aksentijevich I, Nigrovic PA.

J Allergy Clin Immunol. 2018 Oct;142(4):1363-1365.e8. doi: 10.1016/j.jaci.2018.05.038. Epub 2018 Jun 21. No abstract available.

17.

TNFAIP3 haploinsufficiency is the cause of autoinflammatory manifestations in a patient with a deletion of 13Mb on chromosome 6.

Franco-Jarava C, Wang H, Martin-Nalda A, Alvarez SD, García-Prat M, Bodet D, García-Patos V, Plaja A, Rudilla F, Rodriguez-Sureda V, García-Latorre L, Aksentijevich I, Colobran R, Soler-Palacín P.

Clin Immunol. 2018 Jun;191:44-51. doi: 10.1016/j.clim.2018.03.009. Epub 2018 Mar 20.

PMID:
29572183
18.

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.

19.

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
20.

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
21.

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.

22.

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
23.

Clinical and Molecular Phenotypes of Low-Penetrance Variants of NLRP3: Diagnostic and Therapeutic Challenges.

Kuemmerle-Deschner JB, Verma D, Endres T, Broderick L, de Jesus AA, Hofer F, Blank N, Krause K, Rietschel C, Horneff G, Aksentijevich I, Lohse P, Goldbach-Mansky R, Hoffman HM, Benseler SM.

Arthritis Rheumatol. 2017 Nov;69(11):2233-2240. doi: 10.1002/art.40208. Epub 2017 Oct 17.

24.

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.

25.

ADA2 deficiency (DADA2) as an unrecognised cause of early onset polyarteritis nodosa and stroke: a multicentre national study.

Caorsi R, Penco F, Grossi A, Insalaco A, Omenetti A, Alessio M, Conti G, Marchetti F, Picco P, Tommasini A, Martino S, Malattia C, Gallizi R, Podda RA, Salis A, Falcini F, Schena F, Garbarino F, Morreale A, Pardeo M, Ventrici C, Passarelli C, Zhou Q, Severino M, Gandolfo C, Damonte G, Martini A, Ravelli A, Aksentijevich I, Ceccherini I, Gattorno M.

Ann Rheum Dis. 2017 Oct;76(10):1648-1656. doi: 10.1136/annrheumdis-2016-210802. Epub 2017 May 18. Erratum in: Ann Rheum Dis. 2019 Jul;78(7):e73.

PMID:
28522451
26.

NF-κB Pathway in Autoinflammatory Diseases: Dysregulation of Protein Modifications by Ubiquitin Defines a New Category of Autoinflammatory Diseases.

Aksentijevich I, Zhou Q.

Front Immunol. 2017 Apr 19;8:399. doi: 10.3389/fimmu.2017.00399. eCollection 2017. Review.

27.

Lessons from characterization and treatment of the autoinflammatory syndromes.

Aksentijevich I, McDermott MF.

Curr Opin Rheumatol. 2017 Mar;29(2):187-194. doi: 10.1097/BOR.0000000000000362. Review.

28.

Human adenosine deaminases ADA1 and ADA2 bind to different subsets of immune cells.

Kaljas Y, Liu C, Skaldin M, Wu C, Zhou Q, Lu Y, Aksentijevich I, Zavialov AV.

Cell Mol Life Sci. 2017 Feb;74(3):555-570. doi: 10.1007/s00018-016-2357-0. Epub 2016 Sep 23.

PMID:
27663683
29.

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.

30.

Adenosine deaminase 2 deficiency presenting as spastic paraplegia and systemic vasculitis.

Poswar Fde O, da Fonseca RM, de Albuquerque LC, Zhou Q, Jardim LB, Monte TL, Aksentijevich I, Saute JA.

J Neurol. 2016 Apr;263(4):818-20. doi: 10.1007/s00415-016-8070-y. Epub 2016 Feb 25. No abstract available.

PMID:
26914925
31.

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.

32.

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.

33.

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].

34.

A Case Series of Adenosine Deaminase 2-deficient Patients Emphasizing Treatment and Genotype-phenotype Correlations.

Batu ED, Karadag O, Taskiran EZ, Kalyoncu U, Aksentijevich I, Alikasifoglu M, Özen S.

J Rheumatol. 2015 Aug;42(8):1532-4. doi: 10.3899/jrheum.150024. No abstract available.

PMID:
26233953
35.

Single amino acid charge switch defines clinically distinct proline-serine-threonine phosphatase-interacting protein 1 (PSTPIP1)-associated inflammatory diseases.

Holzinger D, Fassl SK, de Jager W, Lohse P, Röhrig UF, Gattorno M, Omenetti A, Chiesa S, Schena F, Austermann J, Vogl T, Kuhns DB, Holland SM, Rodríguez-Gallego C, López-Almaraz R, Arostegui JI, Colino E, Roldan R, Fessatou S, Isidor B, Poignant S, Ito K, Epple HJ, Bernstein JA, Jeng M, Frankovich J, Lionetti G, Church JA, Ong PY, LaPlant M, Abinun M, Skinner R, Bigley V, Sachs UJ, Hinze C, Hoppenreijs E, Ehrchen J, Foell D, Chae JJ, Ombrello A, Aksentijevich I, Sunderkoetter C, Roth J.

J Allergy Clin Immunol. 2015 Nov;136(5):1337-45. doi: 10.1016/j.jaci.2015.04.016. Epub 2015 May 27.

36.

Brief Report: Cryopyrin-Associated Periodic Syndrome Caused by a Myeloid-Restricted Somatic NLRP3 Mutation.

Zhou Q, Aksentijevich I, Wood GM, Walts AD, Hoffmann P, Remmers EF, Kastner DL, Ombrello AK.

Arthritis Rheumatol. 2015 Sep;67(9):2482-6. doi: 10.1002/art.39190.

37.

Unexplained early-onset lacunar stroke and inflammatory skin lesions: Consider ADA2 deficiency.

Westendorp WF, Nederkoorn PJ, Aksentijevich I, Hak AE, Lichtenbelt KD, Braun KP.

Neurology. 2015 May 19;84(20):2092-3. doi: 10.1212/WNL.0000000000001581. Epub 2015 Apr 17. No abstract available.

38.

Update on genetics and pathogenesis of autoinflammatory diseases: the last 2 years.

Aksentijevich I.

Semin Immunopathol. 2015 Jul;37(4):395-401. doi: 10.1007/s00281-015-0478-4. Epub 2015 Apr 10. Review.

PMID:
25860799
39.

Connecting two pathways through Ca 2+ signaling: NLRP3 inflammasome activation induced by a hypermorphic PLCG2 mutation.

Chae JJ, Park YH, Park C, Hwang IY, Hoffmann P, Kehrl JH, Aksentijevich I, Kastner DL.

Arthritis Rheumatol. 2015 Feb;67(2):563-7.

40.

New players driving inflammation in monogenic autoinflammatory diseases.

Martinon F, Aksentijevich I.

Nat Rev Rheumatol. 2015 Jan;11(1):11-20. doi: 10.1038/nrrheum.2014.158. Epub 2014 Sep 23. Review.

PMID:
25247411
41.

Mutant ADA2 in vasculopathies.

Kastner DL, Zhou Q, Aksentijevich I.

N Engl J Med. 2014 Jul 31;371(5):480-1. doi: 10.1056/NEJMc1405506. No abstract available.

42.

Early-onset stroke and vasculopathy associated with mutations in ADA2.

Zhou Q, Yang D, Ombrello AK, Zavialov AV, Toro C, Zavialov AV, Stone DL, Chae JJ, Rosenzweig SD, Bishop K, Barron KS, Kuehn HS, Hoffmann P, Negro A, Tsai WL, Cowen EW, Pei W, Milner JD, Silvin C, Heller T, Chin DT, Patronas NJ, Barber JS, Lee CC, Wood GM, Ling A, Kelly SJ, Kleiner DE, Mullikin JC, Ganson NJ, Kong HH, Hambleton S, Candotti F, Quezado MM, Calvo KR, Alao H, Barham BK, Jones A, Meschia JF, Worrall BB, Kasner SE, Rich SS, Goldbach-Mansky R, Abinun M, Chalom E, Gotte AC, Punaro M, Pascual V, Verbsky JW, Torgerson TR, Singer NG, Gershon TR, Ozen S, Karadag O, Fleisher TA, Remmers EF, Burgess SM, Moir SL, Gadina M, Sood R, Hershfield MS, Boehm M, Kastner DL, Aksentijevich I.

N Engl J Med. 2014 Mar 6;370(10):911-20. doi: 10.1056/NEJMoa1307361. Epub 2014 Feb 19.

43.

Microarray-based gene expression profiling in patients with cryopyrin-associated periodic syndromes defines a disease-related signature and IL-1-responsive transcripts.

Balow JE Jr, Ryan JG, Chae JJ, Booty MG, Bulua A, Stone D, Sun HW, Greene J, Barham B, Goldbach-Mansky R, Kastner DL, Aksentijevich I.

Ann Rheum Dis. 2013 Jun;72(6):1064-70. doi: 10.1136/annrheumdis-2012-202082. Epub 2012 Dec 5.

44.

The calcium-sensing receptor regulates the NLRP3 inflammasome through Ca2+ and cAMP.

Lee GS, Subramanian N, Kim AI, Aksentijevich I, Goldbach-Mansky R, Sacks DB, Germain RN, Kastner DL, Chae JJ.

Nature. 2012 Dec 6;492(7427):123-7. doi: 10.1038/nature11588. Epub 2012 Nov 11.

45.

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.

Am J Hum Genet. 2012 Oct 5;91(4):713-20. doi: 10.1016/j.ajhg.2012.08.006. Epub 2012 Sep 20.

46.

Naturally occurring genetic variants of human caspase-1 differ considerably in structure and the ability to activate interleukin-1β.

Luksch H, Romanowski MJ, Chara O, Tüngler V, Caffarena ER, Heymann MC, Lohse P, Aksentijevich I, Remmers EF, Flecks S, Quoos N, Gramatté J, Petzold C, Hofmann SR, Winkler S, Pessler F, Kallinich T, Ganser G, Nimtz-Talaska A, Baumann U, Runde V, Grimbacher B, Birmelin J, Gahr M, Roesler J, Rösen-Wolff A.

Hum Mutat. 2013 Jan;34(1):122-31. doi: 10.1002/humu.22169. Epub 2012 Aug 10.

PMID:
22833538
47.

Guidelines for the genetic diagnosis of hereditary recurrent fevers.

Shinar Y, Obici L, Aksentijevich I, Bennetts B, Austrup F, Ceccherini I, Costa JM, De Leener A, Gattorno M, Kania U, Kone-Paut I, Lezer S, Livneh A, Moix I, Nishikomori R, Ozen S, Phylactou L, Risom L, Rowczenio D, Sarkisian T, van Gijn ME, Witsch-Baumgartner M, Morris M, Hoffman HM, Touitou I; European Molecular Genetics Quality Network.

Ann Rheum Dis. 2012 Oct;71(10):1599-605. doi: 10.1136/annrheumdis-2011-201271. Epub 2012 Jun 1.

48.

Increased activity of interleukin-23/interleukin-17 cytokine axis in primary antiphospholipid syndrome.

Popovic-Kuzmanovic D, Novakovic I, Stojanovich L, Aksentijevich I, Zogovic N, Tovilovic G, Trajkovic V.

Immunobiology. 2013 Feb;218(2):186-91. doi: 10.1016/j.imbio.2012.03.002. Epub 2012 Mar 28.

PMID:
22559912
49.

Deficiency of interleukin-1 receptor antagonist responsive to anakinra.

Schnellbacher C, Ciocca G, Menendez R, Aksentijevich I, Goldbach-Mansky R, Duarte AM, Rivas-Chacon R.

Pediatr Dermatol. 2013 Nov-Dec;30(6):758-60. doi: 10.1111/j.1525-1470.2012.01725.x. Epub 2012 Apr 4.

50.

Interleukin 1 receptor antagonist deficiency presenting as infantile pustulosis mimicking infantile pustular psoriasis.

Minkis K, Aksentijevich I, Goldbach-Mansky R, Magro C, Scott R, Davis JG, Sardana N, Herzog R.

Arch Dermatol. 2012 Jun;148(6):747-52. doi: 10.1001/archdermatol.2011.3208.

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