Dominant-negative heterozygous mutations in AIRE confer diverse autoimmune phenotypes

Authors: Oftedal, Bergithe E. ^{1, 17, ∗}, Assing, Kristian ², Baris, Safa ^{3, 4}, Safgren, Stephanie L. ⁵, Johansen, Isik S. ⁶, Jakobsen, Marianne Antonius ², Babovic-Vuksanovic, Dusica ⁷, Agre, Katherine ⁸, Klee, Eric W. ⁹, Majcic, Emina ¹, Ferré, Elise M.N. ¹⁰, Schmitt, Monica M. ¹⁰, DiMaggio, Tom ¹⁰, Rosen, Lindsey B. ¹⁰, Rahman, Muhammad Obaidur ¹, Chrysis, Dionisios ¹¹, Giannakopoulos, Aristeidis ¹¹, Garcia, Maria Tallon ¹², González-Granado, Luis Ignacio ¹³, Stanley, Katherine ¹⁴, Galant-Swafford, Jessica ¹⁵, Suwannarat, Pim ¹⁴, Meyts, Isabelle ¹⁶, Lionakis, Michail S. ¹⁰, Husebye, Eystein S. ^{1, ∗∗}

Source: In iScience 16 June 2023 26(6)

Antibody responses to the SARS-CoV-2 vaccine in individuals with various inborn errors of immunity

Authors: Delmonte, Ottavia M. ^∗, Bergerson, Jenna R.E. ^∗, Burbelo, Peter D. ^∗, Durkee-Shock, Jessica R., Dobbs, Kerry, Bosticardo, Marita, Keller, Michael D., McDermott, David H., Rao, V. Koneti, Dimitrova, Dimana, Quiros-Roldan, Eugenia, Imberti, Luisa, Ferrè, Elise M.N., Schmitt, Monica, Lafeer, Christine, Pfister, Justina, Shaw, Dawn, Draper, Deborah, Truong, Meng, Ulrick, Jean, DiMaggio, Tom, Urban, Amanda, Holland, Steven M., Lionakis, Michail S., Cohen, Jeffrey I., Ricotta, Emily E., Notarangelo, Luigi D., Freeman, Alexandra F.

Source: In The Journal of Allergy and Clinical Immunology November 2021 148(5):1192-1197

Heritable risk for severe anaphylaxis associated with increased α-tryptase–encoding germline copy number at TPSAB1

Authors: Lyons, Jonathan J., Chovanec, Jack, O’Connell, Michael P., Liu, Yihui, Šelb, Julij, Zanotti, Roberta, Bai, Yun, Kim, Jiwon, Le, Quang T., DiMaggio, Tom, Schwartz, Lawrence B., Komarow, Hirsh D., Rijavec, Matija, Carter, Melody C., Milner, Joshua D., Bonadonna, Patrizia, Metcalfe, Dean D., Korošec, Peter

Source: In The Journal of Allergy and Clinical Immunology February 2021 147(2):622-632

Human TH9 differentiation is dependent on signal transducer and activator of transcription (STAT) 3 to restrain STAT1-mediated inhibition

Authors: Zhang, Yuan, Siegel, Andrea M., Sun, Guangping, Dimaggio, Tom, Freeman, Alexandra F., Milner, Joshua D.

Source: In The Journal of Allergy and Clinical Immunology March 2019 143(3):1108-1118

A deep intronic splice–altering AIRE variant causes APECED syndrome through antisense oligonucleotide-targetable pseudoexon inclusion.

Authors: Ochoa, Sebastian, Hsu, Amy P., Oler, Andrew J., Kumar, Dhaneshwar, Chauss, Daniel, van Hamburg, Jan Piet, van Laar, Gustaaf G., Oikonomou, Vasileios, Ganesan, Sundar, Ferré, Elise M. N., Schmitt, Monica M., DiMaggio, Tom, Barber, Princess, Constantine, Gregory M., Rosen, Lindsey B., Auwaerter, Paul G., Gandhi, Bhumika, Miller, Jennifer L., Eisenberg, Rachel, Rubinstein, Arye

Source: Science Translational Medicine; 9/18/2024, Vol. 16 Issue 765, p1-16, 16p

Subject Terms: LYMPHOBLASTOID cell lines, WHOLE genome sequencing, AUTOIMMUNE diseases, PROTEIN models, EPITHELIAL cells

Loss-of-function mutations in caspase recruitment domain-containing protein 14 (CARD14) are associated with a severe variant of atopic dermatitis

Authors: Peled, Alon, Sarig, Ofer, Sun, Guangping, Samuelov, Liat, Ma, Chi A., Zhang, Yuan, Dimaggio, Tom, Nelson, Celeste G., Stone, Kelly D., Freeman, Alexandra F., Malki, Liron, Vidal, Lucia Seminario, Chamarthy, Latha M., Briskin, Valeria, Mohamad, Janan, Pavlovsky, Mor, Walter, Jolan E., Milner, Joshua D., Sprecher, Eli

Source: In The Journal of Allergy and Clinical Immunology January 2019 143(1):173-181

Identification and analysis of peanut-specific effector T and regulatory T cells in children allergic and tolerant to peanut

Authors: Weissler, Katherine A., Rasooly, Marjohn, DiMaggio, Tom, Bolan, Hyejeong, Cantave, Daly, Martino, David, Neeland, Melanie R., Tang, Mimi L.K., Dang, Thanh D., Allen, Katrina J., Frischmeyer-Guerrerio, Pamela A.

Source: In The Journal of Allergy and Clinical Immunology May 2018 141(5):1699-1710

Clinical response to omalizumab in patients with hereditary α-tryptasemia

Authors: Mendoza Alvarez, Lybil B., Barker, Russell, Nelson, Celeste, DiMaggio, Tom, Stone, Kelly D., Milner, Joshua D., Rosenthal, Jamie A., Petroni, Daniel H., Glover, Sara C., Lyons, Jonathan J.

Source: Annals of allergy, asthma & immunology. 124(1):99-100.e1

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100097659155.0x000001&indx=1&recIds=ETOCvdc_100097659155.0x000001

NF-kappa-B essential modulator (NEMO) gene polymorphism in an adult woman with systemic lupus erythematosus and recurrent non-tuberculous mycobacterial disseminated infections.

Authors: Thomas, Konstantinos, Tsioulos, Georgios, Kotsogianni, Christina, Banos, Agellos, Niemela, Julie E., Cheng, Aristine, DiMaggio, Tom, Holland, Steven, Rosenzweig, Sergio D., Tziolos, Nikolaos, Papadopoulos, Antonios, Lionakis, Michail S., Boumpas, Dimitrios T.

Source: RMD Open; Apr2023, Vol. 9 Issue 2, p1-6, 6p

Impact of food allergy on the growth of children with moderate-severe atopic dermatitis

Authors: Jhamnani, Rekha D., Levin, Samara, Rasooly, Marjohn, Stone, Kelly D., Milner, Joshua D., Nelson, Celeste, DiMaggio, Tom, Jones, Nina, Guerrerio, Anthony L., Frischmeyer-Guerrerio, Pamela A.

Source: journal of allergy and clinical immunology. 141(4):1526-1529.e4

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100056877383.0x000001&indx=1&recIds=ETOCvdc_100056877383.0x000001

SARS-CoV-2 Spike Protein-Directed Monoclonal Antibodies May Ameliorate COVID-19 Complications in APECED Patients.

Authors: Ferré, Elise M. N., Schmitt, Monica M., Ochoa, Sebastian, Rosen, Lindsey B., Shaw, Elana R., Burbelo, Peter D., Stoddard, Jennifer L., Rampertaap, Shakuntala, DiMaggio, Tom, Bergerson, Jenna R. E., Rosenzweig, Sergio D., Notarangelo, Luigi D., Holland, Steven M., Lionakis, Michail S.

Source: Frontiers in Immunology; 8/24/2021, Vol. 12, p1-9, 9p

Subject Terms: COVID-19, SARS-CoV-2, MONOCLONAL antibodies, TYPE I interferons, AUTOANTIBODY analysis, DEATH rate, PULMONARY fibrosis, ADDISON'S disease

Prevalence of APECED-Like Clinical Disease in an Electronic Health Record Database, USA.

Authors: Ricotta, Emily E., Ferré, Elise M. N., Schmitt, Monica M., DiMaggio, Tom, Lionakis, Michail S.

Source: Journal of Clinical Immunology; May2022, Vol. 42 Issue 4, p904-906, 3p

Subject Terms: ELECTRONIC health records, VULVOVAGINAL candidiasis, HYPOPARATHYROIDISM

A deep intronic splice–altering AIREvariant causes APECED syndrome through antisense oligonucleotide-targetable pseudoexon inclusion

Authors: Ochoa, Sebastian, Hsu, Amy P., Oler, Andrew J., Kumar, Dhaneshwar, Chauss, Daniel, van Hamburg, Jan Piet, van Laar, Gustaaf G., Oikonomou, Vasileios, Ganesan, Sundar, Ferré, Elise M. N., Schmitt, Monica M., DiMaggio, Tom, Barber, Princess, Constantine, Gregory M., Rosen, Lindsey B., Auwaerter, Paul G., Gandhi, Bhumika, Miller, Jennifer L., Eisenberg, Rachel, Rubinstein, Arye, Schussler, Edith, Balliu, Erjola, Shashi, Vandana, Neth, Olaf, Olbrich, Peter, Le, Kim My, Mamia, Nanni, Laakso, Saila, Nevalainen, Pasi I., Grönholm, Juha, Seppänen, Mikko R. J., Boon, Louis, Uzel, Gulbu, Franco, Luis M., Heller, Theo, Winer, Karen K., Ghosh, Rajarshi, Seifert, Bryce A., Walkiewicz, Magdalena, Notarangelo, Luigi D., Zhou, Qing, Askentijevich, Ivona, Gahl, William, Dalgard, Cliffton L., Perera, Lalith, Afzali, Behdad, Tas, Sander W., Holland, Steven M., Lionakis, Michail S.

Source: Science Translational Medicine; September 2024, Vol. 16 Issue: 765

This result is not displayed to guests.
Login for full access.

Want Men In Nursing? Stop Referring To Nurses As Women.

Authors: DiMaggio, Tom

Source: RN; Jan2003, Vol. 66 Issue 1, p13-13, 1/3p

Subject Terms: LETTERS to the editor, NURSING