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Page 1
Congenital iRHOM2 deficiency causes ADAM17 dysfunction and environmentally directed immunodysregulatory disease.
Kubo S, Fritz JM, Raquer-McKay HM, Kataria R, Vujkovic-Cvijin I, Al-Shaibi A, Yao Y, Zheng L, Zou J, Waldman AD, Jing X, Farley TK, Park AY, Oler AJ, Charles AK, Makhlouf M, AbouMoussa EH, Hasnah R, Saraiva LR, Ganesan S, Al-Subaiey AA, Matthews H, Flano E, Lee HH, Freeman AF, Sefer AP, Sayar E, Çakır E, Karakoc-Aydiner E, Baris S, Belkaid Y, Ozen A, Lo B, Lenardo MJ. Kubo S, et al. Among authors: oler aj. Nat Immunol. 2022 Jan;23(1):75-85. doi: 10.1038/s41590-021-01093-y. Epub 2021 Dec 22. Nat Immunol. 2022. PMID: 34937930 Free PMC article. Clinical Trial.
Genomics of PDGFR-rearranged hypereosinophilic syndrome.
Rheinbay E, Qi M, Bouyssou JM, Oler AJ, Thumm L, Makiya M, Maric I, Klion AD, Lane AA. Rheinbay E, et al. Among authors: oler aj. Blood Adv. 2023 Jun 13;7(11):2558-2563. doi: 10.1182/bloodadvances.2022009061. Blood Adv. 2023. PMID: 36652685 Free PMC article. No abstract available.
Aspergillosis, eosinophilic esophagitis, and allergic rhinitis in signal transducer and activator of transcription 3 haploinsufficiency.
Natarajan M, Hsu AP, Weinreich MA, Zhang Y, Niemela JE, Butman JA, Pittaluga S, Sugui J, Collar AL, Lim JK, Zangeneh T, Carr T, Oler AJ, Similuk M, Rosen LB, Desai JV, Freeman AF, Holland SM, Kwon-Chung KJ, Milner JD, Lionakis MS. Natarajan M, et al. Among authors: oler aj. J Allergy Clin Immunol. 2018 Sep;142(3):993-997.e3. doi: 10.1016/j.jaci.2018.05.009. Epub 2018 May 24. J Allergy Clin Immunol. 2018. PMID: 29803798 No abstract available.
Hypomorphic caspase activation and recruitment domain 11 (CARD11) mutations associated with diverse immunologic phenotypes with or without atopic disease.
Dorjbal B, Stinson JR, Ma CA, Weinreich MA, Miraghazadeh B, Hartberger JM, Frey-Jakobs S, Weidinger S, Moebus L, Franke A, Schäffer AA, Bulashevska A, Fuchs S, Ehl S, Limaye S, Arkwright PD, Briggs TA, Langley C, Bethune C, Whyte AF, Alachkar H, Nejentsev S, DiMaggio T, Nelson CG, Stone KD, Nason M, Brittain EH, Oler AJ, Veltri DP, Leahy TR, Conlon N, Poli MC, Borzutzky A, Cohen JI, Davis J, Lambert MP, Romberg N, Sullivan KE, Paris K, Freeman AF, Lucas L, Chandrakasan S, Savic S, Hambleton S, Patel SY, Jordan MB, Theos A, Lebensburger J, Atkinson TP, Torgerson TR, Chinn IK, Milner JD, Grimbacher B, Cook MC, Snow AL. Dorjbal B, et al. Among authors: oler aj. J Allergy Clin Immunol. 2019 Apr;143(4):1482-1495. doi: 10.1016/j.jaci.2018.08.013. Epub 2018 Aug 28. J Allergy Clin Immunol. 2019. PMID: 30170123 Free PMC article.
Warts and DADA2: a Mere Coincidence?
Arts K, Bergerson JRE, Ombrello AK, Similuk M, Oler AJ, Agharahimi A, Mace EM, Hershfield M, Wouters C, De Somer L, Morren MA, Diego RP, Moens L, Freeman AF, Meyts I. Arts K, et al. Among authors: oler aj. J Clin Immunol. 2018 Nov;38(8):836-843. doi: 10.1007/s10875-018-0565-0. Epub 2018 Nov 1. J Clin Immunol. 2018. PMID: 30386947 No abstract available.
Magnesium transporter 1 (MAGT1) deficiency causes selective defects in N-linked glycosylation and expression of immune-response genes.
Matsuda-Lennikov M, Biancalana M, Zou J, Ravell JC, Zheng L, Kanellopoulou C, Jiang P, Notarangelo G, Jing H, Masutani E, Oler AJ, Olano LR, Schulz BL, Lenardo MJ. Matsuda-Lennikov M, et al. Among authors: oler aj. J Biol Chem. 2019 Sep 13;294(37):13638-13656. doi: 10.1074/jbc.RA119.008903. Epub 2019 Jul 23. J Biol Chem. 2019. PMID: 31337704 Free PMC article.
Extended clinical and immunological phenotype and transplant outcome in CD27 and CD70 deficiency.
Ghosh S, Köstel Bal S, Edwards ESJ, Pillay B, Jiménez Heredia R, Erol Cipe F, Rao G, Salzer E, Zoghi S, Abolhassani H, Momen T, Gostick E, Price DA, Zhang Y, Oler AJ, Gonzaga-Jauregui C, Erman B, Metin A, Ilhan I, Haskologlu S, Islamoglu C, Baskin K, Ceylaner S, Yilmaz E, Unal E, Karakukcu M, Berghuis D, Cole T, Gupta AK, Hauck F, Kogler H, Hoepelman AIM, Baris S, Karakoc-Aydiner E, Ozen A, Kager L, Holzinger D, Paulussen M, Krüger R, Meisel R, Oommen PT, Morris E, Neven B, Worth A, van Montfrans J, Fraaij PLA, Choo S, Dogu F, Davies EG, Burns S, Dückers G, Becker RP, von Bernuth H, Latour S, Faraci M, Gattorno M, Su HC, Pan-Hammarström Q, Hammarström L, Lenardo MJ, Ma CS, Niehues T, Aghamohammadi A, Rezaei N, Ikinciogullari A, Tangye SG, Lankester AC, Boztug K. Ghosh S, et al. Among authors: oler aj. Blood. 2020 Dec 3;136(23):2638-2655. doi: 10.1182/blood.2020006738. Blood. 2020. PMID: 32603431 Free PMC article. Clinical Trial.
HEM1 deficiency disrupts mTORC2 and F-actin control in inherited immunodysregulatory disease.
Cook SA, Comrie WA, Poli MC, Similuk M, Oler AJ, Faruqi AJ, Kuhns DB, Yang S, Vargas-Hernández A, Carisey AF, Fournier B, Anderson DE, Price S, Smelkinson M, Abou Chahla W, Forbes LR, Mace EM, Cao TN, Coban-Akdemir ZH, Jhangiani SN, Muzny DM, Gibbs RA, Lupski JR, Orange JS, Cuvelier GDE, Al Hassani M, Al Kaabi N, Al Yafei Z, Jyonouchi S, Raje N, Caldwell JW, Huang Y, Burkhardt JK, Latour S, Chen B, ElGhazali G, Rao VK, Chinn IK, Lenardo MJ. Cook SA, et al. Among authors: oler aj. Science. 2020 Jul 10;369(6500):202-207. doi: 10.1126/science.aay5663. Science. 2020. PMID: 32647003 Free PMC article.
Human Dectin-1 deficiency impairs macrophage-mediated defense against phaeohyphomycosis.
Drummond RA, Desai JV, Hsu AP, Oikonomou V, Vinh DC, Acklin JA, Abers MS, Walkiewicz MA, Anzick SL, Swamydas M, Vautier S, Natarajan M, Oler AJ, Yamanaka D, Mayer-Barber KD, Iwakura Y, Bianchi D, Driscoll B, Hauck K, Kline A, Viall NS, Zerbe CS, Ferré EM, Schmitt MM, DiMaggio T, Pittaluga S, Butman JA, Zelazny AM, Shea YR, Arias CA, Ashbaugh C, Mahmood M, Temesgen Z, Theofiles AG, Nigo M, Moudgal V, Bloch KC, Kelly SG, Whitworth MS, Rao G, Whitener CJ, Mafi N, Gea-Banacloche J, Kenyon LC, Miller WR, Boggian K, Gilbert A, Sincock M, Freeman AF, Bennett JE, Hasbun R, Mikelis CM, Kwon-Chung KJ, Belkaid Y, Brown GD, Lim JK, Kuhns DB, Holland SM, Lionakis MS. Drummond RA, et al. Among authors: oler aj. J Clin Invest. 2022 Nov 15;132(22):e159348. doi: 10.1172/JCI159348. J Clin Invest. 2022. PMID: 36377664 Free PMC article.
Chromosomal microarray analysis supplements exome sequencing to diagnose children with suspected inborn errors of immunity.
Beers BJ, Similuk MN, Ghosh R, Seifert BA, Jamal L, Kamen M, Setzer MR, Jodarski C, Duncan R, Hunt D, Mixer M, Cao W, Bi W, Veltri D, Karlins E, Zhang L, Li Z, Oler AJ, Jevtich K, Yu Y, Hullfish H, Bielekova B, Frischmeyer-Guerrerio P, Dang Do A, Huryn LA, Olivier KN, Su HC, Lyons JJ, Zerbe CS, Rao VK, Keller MD, Freeman AF, Holland SM, Franco LM, Walkiewicz MA, Yan J. Beers BJ, et al. Among authors: oler aj. Front Immunol. 2023 May 5;14:1172004. doi: 10.3389/fimmu.2023.1172004. eCollection 2023. Front Immunol. 2023. PMID: 37215141 Free PMC article.
68 results