Ivona Aksentijevich

InstitutionNational Human Genome Research Institute
AddressBethesda
Maryland
United States
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    Publication Timeline
    COVID-19 publications
    Bar chart showing 1 Covid-19 publications, with a maximum of 1 publications in October 2020
    All Publications
    Bar chart showing 77 publications over 17 distinct years, with a maximum of 10 publications in 2012
    These graphs show COVID-19 publications by month since August 2019 and all publications written by authors of COVID-19 publications over the past 30 years.

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    Publication Field Summary
    This graph shows the number and percent of publications by field. Fields are based on how the National Library of Medicine (NLM) classifies the publications' journals and might not represent the specific topics of the publications. Note that an individual publication can be assigned to more than one field. As a result, the publication counts in this graph might add up to more than the number of publications the person has written. To see the data as text, click here.
    Publication List
    Publications listed below are automatically derived from MEDLINE/PubMed and other sources, which might result in incorrect or missing publications.
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    PMC Citations indicate the number of times the publication was cited by articles in PubMed Central, and the Altmetric score represents citations in news articles and social media. (Note that publications are often cited in additional ways that are not shown here.) Fields are based on how the National Library of Medicine (NLM) classifies the publication's journal and might not represent the specific topic of the publication. Translation tags are based on the publication type and the MeSH terms NLM assigns to the publication. Some publications (especially newer ones and publications not in PubMed) might not yet be assigned Field or Translation tags.) Click a Field or Translation tag to filter the publications.
    1. Beck DB, Aksentijevich I. Susceptibility to severe COVID-19. Science. 2020 10 23; 370(6515):404-405. PMID: 33093097.
      Citations: 10   Article has an altmetric score of 207    Fields:    Translation:HumansCellsPHPublic Health
    2. Schnappauf O, Chae JJ, Kastner DL, Aksentijevich I. The Pyrin Inflammasome in Health and Disease. Front Immunol. 2019; 10:1745. PMID: 31456795.
      Citations: 47   Article has an altmetric score of 9    Fields:    Translation:HumansAnimals
    3. Poubelle PE, Pagé N, Longchamps MP, Sampaio Moura N, Beck DB, Aksentijevich I, Tessier PA, Pelletier M. The use of leukocytes' secretome to individually target biological therapy in autoimmune arthritis: a case report. Clin Transl Med. 2019 Jun 05; 8(1):19. PMID: 31165299.
      Citations: 1   Article has an altmetric score of 1    
    4. 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. Treatment Strategies for Deficiency of Adenosine Deaminase 2. N Engl J Med. 2019 04 18; 380(16):1582-1584. PMID: 30995379.
      Citations: 27   Article has an altmetric score of 32    Fields:    Translation:HumansPHPublic Health
    5. 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. Second Case of HOIP Deficiency Expands Clinical Features and Defines Inflammatory Transcriptome Regulated by LUBAC. Front Immunol. 2019; 10:479. PMID: 30936877.
      Citations: 13   Article has an altmetric score of 5    Fields:    Translation:HumansCells
    6. Moens L, Hershfield M, Arts K, Aksentijevich I, Meyts I. Human adenosine deaminase 2 deficiency: A multi-faceted inborn error of immunity. Immunol Rev. 2019 01; 287(1):62-72. PMID: 30565235.
      Citations: 10   Article has an altmetric score of 1    Fields:    Translation:HumansAnimalsCells
    7. Nair SB, Chavan PP, Athalye AS, Aksentijevich I, Khubchandani RP. Detection of a novel mutation in NLRP3/CIAS1 gene in an Indian child with Neonatal-Onset Multisystem Inflammatory Disease (NOMID). Clin Rheumatol. 2019 Feb; 38(2):403-406. PMID: 30066283.
      Citations: 3   Fields:    Translation:Humans
    8. Meyts I, Aksentijevich I. Deficiency of Adenosine Deaminase 2 (DADA2): Updates on the Phenotype, Genetics, Pathogenesis, and Treatment. J Clin Immunol. 2018 07; 38(5):569-578. PMID: 29951947.
      Citations: 48   Article has an altmetric score of 13    Fields:    Translation:HumansAnimals
    9. 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. Disrupted N-linked glycosylation as a disease mechanism in deficiency of ADA2. J Allergy Clin Immunol. 2018 10; 142(4):1363-1365.e8. PMID: 29936104.
      Citations: 11   Article has an altmetric score of 1    Fields:    Translation:HumansCells
    10. Springer JM, Gierer SA, Jiang H, Kleiner D, Deuitch N, Ombrello AK, Grayson PC, Aksentijevich I. Deficiency of Adenosine Deaminase 2 in Adult Siblings: Many Years of a Misdiagnosed Disease With Severe Consequences. Front Immunol. 2018; 9:1361. PMID: 29963054.
      Citations: 9   Article has an altmetric score of 5    Fields:    
    11. 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. TNFAIP3 haploinsufficiency is the cause of autoinflammatory manifestations in a patient with a deletion of 13Mb on chromosome 6. Clin Immunol. 2018 06; 191:44-51. PMID: 29572183.
      Citations: 10   Article has an altmetric score of 1    Fields:    Translation:HumansCells
    12. 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. Aberrant tRNA processing causes an autoinflammatory syndrome responsive to TNF inhibitors. Ann Rheum Dis. 2018 04; 77(4):612-619. PMID: 29358286.
      Citations: 11   Article has an altmetric score of 1    Fields:    Translation:Humans
    13. 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. A20 haploinsufficiency (HA20): clinical phenotypes and disease course of patients with a newly recognised NF-kB-mediated autoinflammatory disease. Ann Rheum Dis. 2018 05; 77(5):728-735. PMID: 29317407.
      Citations: 46   Article has an altmetric score of 16    Fields:    Translation:Humans
    14. Manthiram K, Zhou Q, Aksentijevich I, Kastner DL. Corrigendum: The monogenic autoinflammatory diseases define new pathways in human innate immunity and inflammation. Nat Immunol. 2017 10 18; 18(11):1271. PMID: 29044244.
      Citations: 3   Fields:    
    15. Manthiram K, Zhou Q, Aksentijevich I, Kastner DL. The monogenic autoinflammatory diseases define new pathways in human innate immunity and inflammation. Nat Immunol. 2017 Jul 19; 18(8):832-842. PMID: 28722725.
      Citations: 82   Article has an altmetric score of 21    Fields:    Translation:HumansCells
    16. 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. Brief Report: Deficiency of Complement 1r Subcomponent in Early-Onset Systemic Lupus Erythematosus: The Role of Disease-Modifying Alleles in a Monogenic Disease. Arthritis Rheumatol. 2017 09; 69(9):1832-1839. PMID: 28544690.
      Citations: 11   Article has an altmetric score of 1    Fields:    Translation:HumansCells
    17. Caorsi R, Penco F, Grossi A, Insalaco A, Omenetti A, Alessio M, Conti G, Marchetti F, Picco P, Tommasini A, Martino S, Malattia C, Gallizzi 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. ADA2 deficiency (DADA2) as an unrecognised cause of early onset polyarteritis nodosa and stroke: a multicentre national study. Ann Rheum Dis. 2017 10; 76(10):1648-1656. PMID: 28522451.
      Citations: 50   Article has an altmetric score of 4    Fields:    Translation:Humans
    18. Aksentijevich I, Zhou Q. NF-?B Pathway in Autoinflammatory Diseases: Dysregulation of Protein Modifications by Ubiquitin Defines a New Category of Autoinflammatory Diseases. Front Immunol. 2017; 8:399. PMID: 28469620.
      Citations: 45   Article has an altmetric score of 51    Fields:    
    19. Aksentijevich I, McDermott MF. Lessons from characterization and treatment of the autoinflammatory syndromes. Curr Opin Rheumatol. 2017 03; 29(2):187-194. PMID: 27906774.
      Citations: 12   Fields:    Translation:Humans
    20. Kaljas Y, Liu C, Skaldin M, Wu C, Zhou Q, Lu Y, Aksentijevich I, Zavialov AV. Human adenosine deaminases ADA1 and ADA2 bind to different subsets of immune cells. Cell Mol Life Sci. 2017 02; 74(3):555-570. PMID: 27663683.
      Citations: 23   Article has an altmetric score of 9    Fields:    Translation:HumansAnimalsCells
    21. 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. Biallelic hypomorphic mutations in a linear deubiquitinase define otulipenia, an early-onset autoinflammatory disease. Proc Natl Acad Sci U S A. 2016 09 06; 113(36):10127-32. PMID: 27559085.
      Citations: 73   Article has an altmetric score of 108    Fields:    Translation:HumansCells
    22. Poswar Fde O, da Fonseca RM, de Albuquerque LC, Zhou Q, Jardim LB, Monte TL, Aksentijevich I, Saute JA. Adenosine deaminase 2 deficiency presenting as spastic paraplegia and systemic vasculitis. J Neurol. 2016 Apr; 263(4):818-20. PMID: 26914925.
      Citations: 7   Fields:    Translation:Humans
    23. 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. Additive loss-of-function proteasome subunit mutations in CANDLE/PRAAS patients promote type I IFN production. J Clin Invest. 2016 Feb; 126(2):795. PMID: 26829627.
      Citations: 12   Fields:    
    24. 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, Hanson EP, 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. Loss-of-function mutations in TNFAIP3 leading to A20 haploinsufficiency cause an early-onset autoinflammatory disease. Nat Genet. 2016 01; 48(1):67-73. PMID: 26642243.
      Citations: 167   Article has an altmetric score of 31    Fields:    Translation:Humans
    25. 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, Rother K, Hildebrand PW, Brogan P, Krüger E, Aksentijevich I, Goldbach-Mansky R. Additive loss-of-function proteasome subunit mutations in CANDLE/PRAAS patients promote type I IFN production. J Clin Invest. 2015 Nov 02; 125(11):4196-211. PMID: 26524591.
      Citations: 74   Article has an altmetric score of 13    Fields:    Translation:HumansCells
    26. Zhou Q, Aksentijevich I, Wood GM, Walts AD, Hoffmann P, Remmers EF, Kastner DL, Ombrello AK. Brief Report: Cryopyrin-Associated Periodic Syndrome Caused by a Myeloid-Restricted Somatic NLRP3 Mutation. Arthritis Rheumatol. 2015 Sep; 67(9):2482-6. PMID: 25988971.
      Citations: 25   Fields:    Translation:HumansCells
    27. 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. Single amino acid charge switch defines clinically distinct proline-serine-threonine phosphatase-interacting protein 1 (PSTPIP1)-associated inflammatory diseases. J Allergy Clin Immunol. 2015 Nov; 136(5):1337-45. PMID: 26025129.
      Citations: 24   Article has an altmetric score of 3    Fields:    Translation:HumansCells
    28. Westendorp WF, Nederkoorn PJ, Aksentijevich I, Hak AE, Lichtenbelt KD, Braun KP. Unexplained early-onset lacunar stroke and inflammatory skin lesions: Consider ADA2 deficiency. Neurology. 2015 May 19; 84(20):2092-3. PMID: 25888558.
      Citations: 16   Article has an altmetric score of 12    Fields:    Translation:Humans
    29. Aksentijevich I. Update on genetics and pathogenesis of autoinflammatory diseases: the last 2 years. Semin Immunopathol. 2015 Jul; 37(4):395-401. PMID: 25860799.
      Citations: 5   Article has an altmetric score of 3    Fields:    Translation:Humans
    30. Chae JJ, Park YH, Park C, Hwang IY, Hoffmann P, Kehrl JH, Aksentijevich I, Kastner DL. Connecting two pathways through Ca 2+ signaling: NLRP3 inflammasome activation induced by a hypermorphic PLCG2 mutation. Arthritis Rheumatol. 2015 Feb; 67(2):563-7. PMID: 25418813.
      Citations: 26   Article has an altmetric score of 7    Fields:    Translation:HumansCells
    31. Martinon F, Aksentijevich I. New players driving inflammation in monogenic autoinflammatory diseases. Nat Rev Rheumatol. 2015 Jan; 11(1):11-20. PMID: 25247411.
      Citations: 25   Article has an altmetric score of 16    Fields:    Translation:HumansAnimals
    32. Kastner DL, Zhou Q, Aksentijevich I. Mutant ADA2 in vasculopathies. N Engl J Med. 2014 07 31; 371(5):480-1. PMID: 25075844.
      Citations: 4   Article has an altmetric score of 8    Fields:    Translation:HumansAnimals
    33. 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. Early-onset stroke and vasculopathy associated with mutations in ADA2. N Engl J Med. 2014 Mar 06; 370(10):911-20. PMID: 24552284.
      Citations: 184   Article has an altmetric score of 76    Fields:    Translation:HumansAnimals
    34. Balow JE, Ryan JG, Chae JJ, Booty MG, Bulua A, Stone D, Sun HW, Greene J, Barham B, Goldbach-Mansky R, Kastner DL, Aksentijevich I. Microarray-based gene expression profiling in patients with cryopyrin-associated periodic syndromes defines a disease-related signature and IL-1-responsive transcripts. Ann Rheum Dis. 2013 Jun; 72(6):1064-70. PMID: 23223423.
      Citations: 18   Fields:    Translation:HumansCells
    35. Lee GS, Subramanian N, Kim AI, Aksentijevich I, Goldbach-Mansky R, Sacks DB, Germain RN, Kastner DL, Chae JJ. The calcium-sensing receptor regulates the NLRP3 inflammasome through Ca2+ and cAMP. Nature. 2012 Dec 06; 492(7427):123-7. PMID: 23143333.
      Citations: 299   Article has an altmetric score of 13    Fields:    Translation:HumansAnimalsCells
    36. 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. A hypermorphic missense mutation in PLCG2, encoding phospholipase C?2, causes a dominantly inherited autoinflammatory disease with immunodeficiency. Am J Hum Genet. 2012 Oct 05; 91(4):713-20. PMID: 23000145.
      Citations: 115   Article has an altmetric score of 13    Fields:    Translation:HumansCells
    37. 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. Naturally occurring genetic variants of human caspase-1 differ considerably in structure and the ability to activate interleukin-1ß. Hum Mutat. 2013 Jan; 34(1):122-31. PMID: 22833538.
      Citations: 17   Fields:    Translation:HumansCells
    38. Minkis K, Aksentijevich I, Goldbach-Mansky R, Magro C, Scott R, Davis JG, Sardana N, Herzog R. Interleukin 1 receptor antagonist deficiency presenting as infantile pustulosis mimicking infantile pustular psoriasis. Arch Dermatol. 2012 Jun; 148(6):747-52. PMID: 22431714.
      Citations: 19   Fields:    Translation:Humans
    39. Schnellbacher C, Ciocca G, Menendez R, Aksentijevich I, Goldbach-Mansky R, Duarte AM, Rivas-Chacon R. Deficiency of interleukin-1 receptor antagonist responsive to anakinra. Pediatr Dermatol. 2013 Nov-Dec; 30(6):758-60. PMID: 22471702.
      Citations: 23   Article has an altmetric score of 3    Fields:    Translation:Humans
    40. Popovic-Kuzmanovic D, Novakovic I, Stojanovich L, Aksentijevich I, Zogovic N, Tovilovic G, Trajkovic V. Increased activity of interleukin-23/interleukin-17 cytokine axis in primary antiphospholipid syndrome. Immunobiology. 2013 Feb; 218(2):186-91. PMID: 22559912.
      Citations: 8   Fields:    Translation:HumansCells
    41. Bulua AC, Mogul DB, Aksentijevich I, Singh H, He DY, Muenz LR, Ward MM, Yarboro CH, Kastner DL, Siegel RM, Hull KM. Efficacy of etanercept in the tumor necrosis factor receptor-associated periodic syndrome: a prospective, open-label, dose-escalation study. Arthritis Rheum. 2012 Mar; 64(3):908-13. PMID: 22006113.
      Citations: 45   Article has an altmetric score of 1    Fields:    Translation:HumansCTClinical Trials
    42. Izawa K, Hijikata A, Tanaka N, Kawai T, Saito MK, Goldbach-Mansky R, Aksentijevich I, Yasumi T, Nakahata T, Heike T, Nishikomori R, Ohara O. Detection of base substitution-type somatic mosaicism of the NLRP3 gene with >99.9% statistical confidence by massively parallel sequencing. DNA Res. 2012 Apr; 19(2):143-52. PMID: 22279087.
      Citations: 20   Article has an altmetric score of 1    Fields:    Translation:Humans
    43. Ombrello MJ, Remmers EF, Sun G, Freeman AF, Datta S, Torabi-Parizi P, Subramanian N, Bunney TD, Baxendale RW, Martins MS, Romberg N, Komarow H, Aksentijevich I, Kim HS, Ho J, Cruse G, Jung MY, Gilfillan AM, Metcalfe DD, Nelson C, O'Brien M, Wisch L, Stone K, Douek DC, Gandhi C, Wanderer AA, Lee H, Nelson SF, Shianna KV, Cirulli ET, Goldstein DB, Long EO, Moir S, Meffre E, Holland SM, Kastner DL, Katan M, Hoffman HM, Milner JD. Cold urticaria, immunodeficiency, and autoimmunity related to PLCG2 deletions. N Engl J Med. 2012 Jan 26; 366(4):330-8. PMID: 22236196.
      Citations: 127   Article has an altmetric score of 70    Fields:    Translation:Humans
    44. Temmerman ST, Ma CA, Zhao Y, Keenan J, Aksentijevich I, Fessler M, Brown MR, Knutsen A, Shapiro R, Jain A. Defective nuclear IKKa function in patients with ectodermal dysplasia with immune deficiency. J Clin Invest. 2012 Jan; 122(1):315-26. PMID: 22156202.
      Citations: 8   Article has an altmetric score of 2    Fields:    Translation:HumansCells
    45. Demidowich AP, Freeman AF, Kuhns DB, Aksentijevich I, Gallin JI, Turner ML, Kastner DL, Holland SM. Brief report: genotype, phenotype, and clinical course in five patients with PAPA syndrome (pyogenic sterile arthritis, pyoderma gangrenosum, and acne). Arthritis Rheum. 2012 Jun; 64(6):2022-7. PMID: 22161697.
      Citations: 43   Article has an altmetric score of 1    Fields:    Translation:Humans
    46. Stenerson M, Dufendach K, Aksentijevich I, Brady J, Austin J, Reed AM. The first reported case of compound heterozygous IL1RN mutations causing deficiency of the interleukin-1 receptor antagonist. Arthritis Rheum. 2011 Dec; 63(12):4018-22. PMID: 21792839.
      Citations: 24   Fields:    Translation:Humans
    47. Tanaka N, Izawa K, Saito MK, Sakuma M, Oshima K, Ohara O, Nishikomori R, Morimoto T, Kambe N, Goldbach-Mansky R, Aksentijevich I, de Saint Basile G, Neven B, van Gijn M, Frenkel J, Aróstegui JI, Yagüe J, Merino R, Ibañez M, Pontillo A, Takada H, Imagawa T, Kawai T, Yasumi T, Nakahata T, Heike T. High incidence of NLRP3 somatic mosaicism in patients with chronic infantile neurologic, cutaneous, articular syndrome: results of an International Multicenter Collaborative Study. Arthritis Rheum. 2011 Nov; 63(11):3625-32. PMID: 21702021.
      Citations: 80   Article has an altmetric score of 3    Fields:    Translation:Humans
    48. Thanou-Stavraki A, Aberle T, Aksentijevich I, Bane BL, Harley JB. Clarithromycin in adult-onset still's disease: a potentially useful therapeutic. J Clin Rheumatol. 2011 Oct; 17(7):373-6. PMID: 21946464.
      Citations: 5   Article has an altmetric score of 1    Fields:    Translation:Humans
    49. Aksentijevich I, Kastner DL. Genetics of monogenic autoinflammatory diseases: past successes, future challenges. Nat Rev Rheumatol. 2011 Jul 05; 7(8):469-78. PMID: 21727933.
      Citations: 48   Fields:    Translation:Humans
    50. Dozmorov IM, Jarvis J, Saban R, Benbrook DM, Wakeland E, Aksentijevich I, Ryan J, Chiorazzi N, Guthridge JM, Drewe E, Tighe PJ, Centola M, Lefkovits I. Internal standard-based analysis of microarray data2--analysis of functional associations between HVE-genes. Nucleic Acids Res. 2011 Oct; 39(18):7881-99. PMID: 21715372.
      Citations: 11   Article has an altmetric score of 1    Fields:    Translation:Humans
    51. Stojanov S, Lapidus S, Chitkara P, Feder H, Salazar JC, Fleisher TA, Brown MR, Edwards KM, Ward MM, Colbert RA, Sun HW, Wood GM, Barham BK, Jones A, Aksentijevich I, Goldbach-Mansky R, Athreya B, Barron KS, Kastner DL. Periodic fever, aphthous stomatitis, pharyngitis, and adenitis (PFAPA) is a disorder of innate immunity and Th1 activation responsive to IL-1 blockade. Proc Natl Acad Sci U S A. 2011 Apr 26; 108(17):7148-53. PMID: 21478439.
      Citations: 60   Article has an altmetric score of 6    Fields:    Translation:HumansCellsCTClinical Trials
    52. Goulielmos GN, Petraki E, Vassou D, Eliopoulos E, Iliopoulos D, Sidiropoulos P, Aksentijevich I, Kardassis D, Boumpas DT. The role of the pro-apoptotic protein Siva in the pathogenesis of Familial Mediterranean fever: A structural and functional analysis. Biochem Biophys Res Commun. 2010 Nov 05; 402(1):141-6. PMID: 20934406.
      Citations: 1   Fields:    Translation:HumansCells
    53. Mehr S, Jones KJ, Singh-Grewal D, Aksentijevich I, Kakakios A. Chronic urticaria of neonatal onset: a potential sign of autoinflammation. J Paediatr Child Health. 2010 Oct; 46(10):608-10. PMID: 20163528.
      Fields:    Translation:Humans
    54. Wang HY, Gopalan V, Aksentijevich I, Yeager M, Ma CA, Mohamoud YA, Quinones M, Matthews C, Boland J, Niemela JE, Torgerson TR, Giliani S, Uzel G, Orange JS, Shapiro R, Notarangelo L, Ochs HD, Fleisher T, Kastner D, Chanock SJ, Jain A. A custom 148 gene-based resequencing chip and the SNP explorer software: new tools to study antibody deficiency. Hum Mutat. 2010 Sep; 31(9):1080-8. PMID: 20652909.
      Citations: 4   Article has an altmetric score of 6    Fields:    Translation:Humans
    55. Kastner DL, Aksentijevich I, Goldbach-Mansky R. Autoinflammatory disease reloaded: a clinical perspective. Cell. 2010 Mar 19; 140(6):784-90. PMID: 20303869.
      Citations: 142   Article has an altmetric score of 6    Fields:    Translation:HumansAnimals
    56. Lehmann P, Salzberger B, Haerle P, Aksentijevich I, Kastner D, Schoelmerich J, Rosenfeld S, Mueller-Ladner U. Variable intrafamilial expressivity of the rare tumor necrosis factor-receptor associated periodic syndrome-associated mutation I170N that affects the TNFR1A cleavage site. Mod Rheumatol. 2010 Jun; 20(3):311-5. PMID: 20169391.
      Citations: 2   Fields:    Translation:Humans
    57. Aksentijevich I, Masters SL, Ferguson PJ, Dancey P, Frenkel J, van Royen-Kerkhoff A, Laxer R, Tedgård U, Cowen EW, Pham TH, Booty M, Estes JD, Sandler NG, Plass N, Stone DL, Turner ML, Hill S, Butman JA, Schneider R, Babyn P, El-Shanti HI, Pope E, Barron K, Bing X, Laurence A, Lee CC, Chapelle D, Clarke GI, Ohson K, Nicholson M, Gadina M, Yang B, Korman BD, Gregersen PK, van Hagen PM, Hak AE, Huizing M, Rahman P, Douek DC, Remmers EF, Kastner DL, Goldbach-Mansky R. An autoinflammatory disease with deficiency of the interleukin-1-receptor antagonist. N Engl J Med. 2009 Jun 04; 360(23):2426-37. PMID: 19494218.
      Citations: 283   Article has an altmetric score of 30    Fields:    Translation:HumansCells
    58. Booty MG, Chae JJ, Masters SL, Remmers EF, Barham B, Le JM, Barron KS, Holland SM, Kastner DL, Aksentijevich I. Familial Mediterranean fever with a single MEFV mutation: where is the second hit? Arthritis Rheum. 2009 Jun; 60(6):1851-61. PMID: 19479870.
      Citations: 69   Article has an altmetric score of 4    Fields:    Translation:Humans
    59. Chae JJ, Aksentijevich I, Kastner DL. Advances in the understanding of familial Mediterranean fever and possibilities for targeted therapy. Br J Haematol. 2009 Sep; 146(5):467-78. PMID: 19466978.
      Citations: 64   Article has an altmetric score of 6    Fields:    Translation:HumansCells
    60. Masters SL, Simon A, Aksentijevich I, Kastner DL. Horror autoinflammaticus: the molecular pathophysiology of autoinflammatory disease (*). Annu Rev Immunol. 2009; 27:621-68. PMID: 19302049.
      Citations: 377   Article has an altmetric score of 10    Fields:    Translation:HumansAnimals
    61. Ryan JG, Aksentijevich I. Tumor necrosis factor receptor-associated periodic syndrome: toward a molecular understanding of the systemic autoinflammatory diseases. Arthritis Rheum. 2009 Jan; 60(1):8-11. PMID: 19116899.
      Citations: 8   Article has an altmetric score of 3    Fields:    Translation:HumansAnimals
    62. Milhavet F, Cuisset L, Hoffman HM, Slim R, El-Shanti H, Aksentijevich I, Lesage S, Waterham H, Wise C, Sarrauste de Menthiere C, Touitou I. The infevers autoinflammatory mutation online registry: update with new genes and functions. Hum Mutat. 2008 Jun; 29(6):803-8. PMID: 18409191.
      Citations: 87   Article has an altmetric score of 3    Fields:    Translation:Humans
    63. Jesus AA, Oliveira JB, Aksentijevich I, Fujihira E, Carneiro-Sampaio MM, Duarte AJ, Silva CA. TNF receptor-associated periodic syndrome (TRAPS): description of a novel TNFRSF1A mutation and response to etanercept. Eur J Pediatr. 2008 Dec; 167(12):1421-5. PMID: 18408954.
      Citations: 12   Fields:    Translation:Humans
    64. Farasat S, Aksentijevich I, Toro JR. Autoinflammatory diseases: clinical and genetic advances. Arch Dermatol. 2008 Mar; 144(3):392-402. PMID: 18347298.
      Citations: 33   Article has an altmetric score of 3    Fields:    Translation:Humans
    65. Jesus AA, Silva CA, Segundo GR, Aksentijevich I, Fujihira E, Watanabe M, Carneiro-Sampaio M, Duarte AJ, Oliveira JB. Phenotype-genotype analysis of cryopyrin-associated periodic syndromes (CAPS): description of a rare non-exon 3 and a novel CIAS1 missense mutation. J Clin Immunol. 2008 Mar; 28(2):134-8. PMID: 18080732.
      Citations: 17   Fields:    Translation:Humans
    66. Singh-Grewal D, Chaitow J, Aksentijevich I, Christodoulou J. Coexistent MEFV and CIAS1 mutations manifesting as familial Mediterranean fever plus deafness. Ann Rheum Dis. 2007 Nov; 66(11):1541. PMID: 17934081.
      Citations: 12   Fields:    Translation:Humans
    67. Aksentijevich I, Putnam CD, Remmers EF, Mueller JL, Le J, Kolodner RD, Moak Z, Chuang M, Austin F, Goldbach-Mansky R, Hoffman HM, Kastner DL. The clinical continuum of cryopyrinopathies: novel CIAS1 mutations in North American patients and a new cryopyrin model. Arthritis Rheum. 2007 Apr; 56(4):1273-1285. PMID: 17393462.
      Citations: 135   Article has an altmetric score of 6    Fields:    Translation:HumansCells
    68. Goldbach-Mansky R, Dailey NJ, Canna SW, Gelabert A, Jones J, Rubin BI, Kim HJ, Brewer C, Zalewski C, Wiggs E, Hill S, Turner ML, Karp BI, Aksentijevich I, Pucino F, Penzak SR, Haverkamp MH, Stein L, Adams BS, Moore TL, Fuhlbrigge RC, Shaham B, Jarvis JN, O'Neil K, Vehe RK, Beitz LO, Gardner G, Hannan WP, Warren RW, Horn W, Cole JL, Paul SM, Hawkins PN, Pham TH, Snyder C, Wesley RA, Hoffmann SC, Holland SM, Butman JA, Kastner DL. Neonatal-onset multisystem inflammatory disease responsive to interleukin-1beta inhibition. N Engl J Med. 2006 Aug 10; 355(6):581-92. PMID: 16899778.
      Citations: 298   Article has an altmetric score of 18    Fields:    Translation:Humans
    69. Aksentijevich I, Remmers EF, Goldbach-Mansky R, Reiff A, Kastner DL. Mutational analysis in neonatal-onset multisystem inflammatory disease: comment on the articles by Frenkel et al and Saito et al. Arthritis Rheum. 2006 Aug; 54(8):2703-4; author reply 2704-5. PMID: 16871551.
      Citations: 7   Fields:    Translation:Humans
    70. Pithukpakorn M, Aksentijevich I, Toro JR. Autoinflammatory diseases: clinical and dermatologic features, genetics, pathogenesis and therapy. Adv Dermatol. 2006; 22:67-90. PMID: 17249296.
      Citations: 1   Fields:    Translation:Humans
    71. Lokuta MA, Cooper KM, Aksentijevich I, Kastner DL, Huttenlocher A. Neutrophil chemotaxis in a patient with neonatal-onset multisystem inflammatory disease and Muckle-Wells syndrome. Ann Allergy Asthma Immunol. 2005 Oct; 95(4):394-9. PMID: 16279571.
      Citations: 5   Fields:    Translation:HumansCells
    72. Siebert S, Amos N, Fielding CA, Wang EC, Aksentijevich I, Williams BD, Brennan P. Reduced tumor necrosis factor signaling in primary human fibroblasts containing a tumor necrosis factor receptor superfamily 1A mutant. Arthritis Rheum. 2005 Apr; 52(4):1287-92. PMID: 15818692.
      Citations: 13   Fields:    Translation:HumansCells
    73. Takada K, Aksentijevich I, Mahadevan V, Dean JA, Kelley RI, Kastner DL. Favorable preliminary experience with etanercept in two patients with the hyperimmunoglobulinemia D and periodic fever syndrome. Arthritis Rheum. 2003 Sep; 48(9):2645-51. PMID: 13130485.
      Citations: 35   Article has an altmetric score of 3    Fields:    Translation:Humans
    74. Hull KM, Shoham N, Chae JJ, Aksentijevich I, Kastner DL. The expanding spectrum of systemic autoinflammatory disorders and their rheumatic manifestations. Curr Opin Rheumatol. 2003 Jan; 15(1):61-9. PMID: 12496512.
      Citations: 55   Article has an altmetric score of 6    Fields:    Translation:Humans
    75. Aksentijevich I, Nowak M, Mallah M, Chae JJ, Watford WT, Hofmann SR, Stein L, Russo R, Goldsmith D, Dent P, Rosenberg HF, Austin F, Remmers EF, Balow JE, Rosenzweig S, Komarow H, Shoham NG, Wood G, Jones J, Mangra N, Carrero H, Adams BS, Moore TL, Schikler K, Hoffman H, Lovell DJ, Lipnick R, Barron K, O'Shea JJ, Kastner DL, Goldbach-Mansky R. De novo CIAS1 mutations, cytokine activation, and evidence for genetic heterogeneity in patients with neonatal-onset multisystem inflammatory disease (NOMID): a new member of the expanding family of pyrin-associated autoinflammatory diseases. Arthritis Rheum. 2002 Dec; 46(12):3340-8. PMID: 12483741.
      Citations: 210   Article has an altmetric score of 9    Fields:    Translation:Humans
    76. McDermott MF, Aksentijevich I. The autoinflammatory syndromes. Curr Opin Allergy Clin Immunol. 2002 Dec; 2(6):511-6. PMID: 14752334.
      Citations: 31   Article has an altmetric score of 1    Fields:    Translation:Humans
    77. Hull KM, Drewe E, Aksentijevich I, Singh HK, Wong K, McDermott EM, Dean J, Powell RJ, Kastner DL. The TNF receptor-associated periodic syndrome (TRAPS): emerging concepts of an autoinflammatory disorder. Medicine (Baltimore). 2002 Sep; 81(5):349-68. PMID: 12352631.
      Citations: 101   Article has an altmetric score of 3    Fields:    Translation:Humans