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Page 1
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: walkiewicz ma. J Clin Invest. 2022 Nov 15;132(22):e159348. doi: 10.1172/JCI159348. J Clin Invest. 2022. PMID: 36377664 Free PMC article.
Case report: Discovery of a de novo FAM111B pathogenic variant in a patient with an APECED-like clinical phenotype.
Ferré EMN, Yu Y, Oikonomou V, Hilfanova A, Lee CR, Rosen LB, Burbelo PD, Vazquez SE, Anderson MS, Barocha A, Heller T, Soldatos A, Holland SM, Walkiewicz MA, Lionakis MS. Ferré EMN, et al. Among authors: walkiewicz ma. Front Immunol. 2023 Feb 17;14:1133387. doi: 10.3389/fimmu.2023.1133387. eCollection 2023. Front Immunol. 2023. PMID: 36875114 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: walkiewicz ma. Front Immunol. 2023 May 5;14:1172004. doi: 10.3389/fimmu.2023.1172004. eCollection 2023. Front Immunol. 2023. PMID: 37215141 Free PMC article.
Reappraisal of Idiopathic CD4 Lymphocytopenia at 30 Years.
Lisco A, Ortega-Villa AM, Mystakelis H, Anderson MV, Mateja A, Laidlaw E, Manion M, Roby G, Higgins J, Kuriakose S, Walkiewicz MA, Similuk M, Leiding JW, Freeman AF, Sheikh V, Sereti I. Lisco A, et al. Among authors: walkiewicz ma. N Engl J Med. 2023 May 4;388(18):1680-1691. doi: 10.1056/NEJMoa2202348. N Engl J Med. 2023. PMID: 37133586 Free PMC article.
Genetic Risk Factors for Early-Onset Merkel Cell Carcinoma.
Mohsin N, Hunt D, Yan J, Jabbour AJ, Nghiem P, Choi J, Zhang Y, Freeman AF, Bergerson JRE, Dell'Orso S, Lachance K, Kulikauskas R, Collado L, Cao W, Lack J, Similuk M, Seifert BA, Ghosh R, Walkiewicz MA, Brownell I. Mohsin N, et al. Among authors: walkiewicz ma. JAMA Dermatol. 2024 Feb 1;160(2):172-178. doi: 10.1001/jamadermatol.2023.5362. JAMA Dermatol. 2024. PMID: 38170500
TCF3 haploinsufficiency defined by immune, clinical, gene-dosage, and murine studies.
Boast B, Goel S, González-Granado LI, Niemela J, Stoddard J, Edwards ESJ, Seneviratne S, Spensberger D, Quesada-Espinosa JF, Allende LM, McDonnell J, Haseley A, Lesmana H, Walkiewicz MA, Muhammad E, Bosco JJ, Fleisher TA, Cohen S, Holland SM, van Zelm MC, Enders A, Kuehn HS, Rosenzweig SD. Boast B, et al. Among authors: walkiewicz ma. J Allergy Clin Immunol. 2023 Sep;152(3):736-747. doi: 10.1016/j.jaci.2023.05.017. Epub 2023 Jun 3. J Allergy Clin Immunol. 2023. PMID: 37277074 Free article.
Topical Steroid Withdrawal is a Targetable Excess of Mitochondrial NAD.
Shobnam N, Saksena S, Ratley G, Yadav M, Chaudhary PP, Sun AA, Howe KN, Gadkari M, Franco LM, Ganesan S, McCann KJ, Hsu AP, Kanakabandi K, Ricklefs S, Lack J, Yu W, Similuk M, Walkiewicz MA; NIAID Centralized Sequencing Program; Gardner DD, Barta K, Tullos K, Myles IA. Shobnam N, et al. Among authors: walkiewicz ma. medRxiv [Preprint]. 2024 Apr 19:2024.04.17.24305846. doi: 10.1101/2024.04.17.24305846. medRxiv. 2024. PMID: 38712043 Free PMC article. Preprint.
FOXI3 haploinsufficiency contributes to low T-cell receptor excision circles and T-cell lymphopenia.
Ghosh R, Bosticardo M, Singh S, Similuk M, Delmonte OM, Pala F, Peng C, Jodarski C, Keller MD, Chinn IK, Groves AK, Notarangelo LD, Walkiewicz MA, Chinen J, Bundy V. Ghosh R, et al. Among authors: walkiewicz ma. J Allergy Clin Immunol. 2022 Dec;150(6):1556-1562. doi: 10.1016/j.jaci.2022.08.005. Epub 2022 Aug 18. J Allergy Clin Immunol. 2022. PMID: 35987349 Free PMC article.
Clinical exome sequencing of 1000 families with complex immune phenotypes: Toward comprehensive genomic evaluations.
Similuk MN, Yan J, Ghosh R, Oler AJ, Franco LM, Setzer MR, Kamen M, Jodarski C, DiMaggio T, Davis J, Gore R, Jamal L, Borges A, Gentile N, Niemela J, Lowe C, Jevtich K, Yu Y, Hullfish H, Hsu AP, Hong C, Littel P, Seifert BA, Milner J, Johnston JJ, Cheng X, Li Z, Veltri D, Huang K, Kaladi K, Barnett J, Zhang L, Vlasenko N, Fan Y, Karlins E, Ganakammal SR, Gilmore R, Tran E, Yun A, Mackey J, Yazhuk S, Lack J, Kuram V, Cao W, Huse S, Frank K, Fahle G, Rosenzweig S, Su Y, Hwang S, Bi W, Bennett J, Myles IA, De Ravin SS, Fuss I, Strober W, Bielekova B, Almeida de Jesus A, Goldbach-Mansky R, Williamson P, Kumar K, Dempsy C, Frischmeyer-Guerrerio P, Fisch R, Bolan H, Metcalfe DD, Komarow H, Carter M, Druey KM, Sereti I, Dropulic L, Klion AD, Khoury P, O' Connell EM, Holland-Thomas NC, Brown T, McDermott DH, Murphy PM, Bundy V, Keller MD, Peng C, Kim H, Norman S, Delmonte OM, Kang E, Su HC, Malech H, Freeman A, Zerbe C, Uzel G, Bergerson JRE, Rao VK, Olivier KN, Lyons JJ, Lisco A, Cohen JI, Lionakis MS, Biesecker LG, Xirasagar S, Notarangelo LD, Holland SM, Walkiewicz MA. Similuk MN, et al. Among authors: walkiewicz ma. J Allergy Clin Immunol. 2022 Oct;150(4):947-954. doi: 10.1016/j.jaci.2022.06.009. Epub 2022 Jun 24. J Allergy Clin Immunol. 2022. PMID: 35753512 Free PMC article. Review.
SASH3 variants cause a novel form of X-linked combined immunodeficiency with immune dysregulation.
Delmonte OM, Bergerson JRE, Kawai T, Kuehn HS, McDermott DH, Cortese I, Zimmermann MT, Dobbs AK, Bosticardo M, Fink D, Majumdar S, Palterer B, Pala F, Dsouza NR, Pouzolles M, Taylor N, Calvo KR, Daley SR, Velez D, Agharahimi A, Myint-Hpu K, Dropulic LK, Lyons JJ, Holland SM, Freeman AF, Ghosh R, Similuk MB, Niemela JE, Stoddard J, Kuhns DB, Urrutia R, Rosenzweig SD, Walkiewicz MA, Murphy PM, Notarangelo LD. Delmonte OM, et al. Among authors: walkiewicz ma. Blood. 2021 Sep 23;138(12):1019-1033. doi: 10.1182/blood.2020008629. Blood. 2021. PMID: 33876203 Free PMC article. Clinical Trial.
19 results