NFKB2 haploinsufficiency identified via screening for IFN-α2 autoantibodies in children and adolescents hospitalized with SARS-CoV-2–related complications

Authors: Kong, Michele, Sanders, Ronald C., Jr., Yates, Masson, Smith, Chelsea, Cvijanovich, Natalie Z., Zinter, MattS., McLaughlin, Gwenn, Tarquinio, Keiko M., Coates, Bria M., Rowan, Courtney M., Randolph, Adrienne G., Newhams, Margaret M., Kucukak, Suden, Novak, Tanya, Moon, Hye Kyung, Kobayashi, Takuma, Melo, Jeni, Young, Cameron, Chen, Sabrina R., Chou, Janet, Flori, Heidi R., Dahmer, Mary K., Levy, Emily R., Behl, Supriya, Drapeau, Noelle M., Schuster, Jennifer E., Cullimore, Melissa L., McCulloh, Russell J., Gertz, Shira J., Schwartz, Stephanie P., Walker, Tracie C., Nofziger, Ryan A., Staat, Mary Allen, Rohlfs, Chelsea C., Fitzgerald, Julie C., Mack, Elizabeth H., Reed, Nelson, Halasa, Natasha B., Loftis, Laura L., Crandall, Hillary, Bodansky, Aaron, Vazquez, Sara E., Al-Musa, Amer, Newhams, Margaret, Zambrano, Laura D., Mitchell, Anthea, Wang, Chung-Yu, Moffitt, Kristin, Irby, Katherine, Staat, Mary A., Zinter, Matt S., Chatani, Brandon, Nofziger, Ryan, Geha, Raif S., DeRisi, Joseph, Campbell, Angela P., Anderson, Mark

Source: In The Journal of Allergy and Clinical Immunology April 2023 151(4):926-930

Phage Immunoprecipitation‐Sequencing Reveals CDHR5 Autoantibodies in Select Patients With Interstitial Lung Disease.

Authors: Upadhyay, Vaibhav, Yoon, Young me, Vazquez, Sara E., Velez, Tania E., Jones, Kirk D., Lee, Cathryn T., Law, Christopher S., Wolters, Paul J., Lee, Seoyeon, Yang, Monica M., Farrand, Erica, Noth, Imre, Strek, Mary E., Anderson, Mark S., DeRisi, Joseph L., Sperling, Anne I., Shum, Anthony K.

Source: ACR Open Rheumatology; Sep2024, Vol. 6 Issue 9, p568-580, 13p

Subject Terms: PEPTIDE analysis, AUTOANTIBODY analysis, BLOOD banks, RANDOM forest algorithms, ACADEMIC medical centers, LOGISTIC regression analysis, HYPERSENSITIVITY pneumonitis, INTERSTITIAL lung diseases, CONNECTIVE tissue diseases, GENETIC polymorphisms, GENE expression, RACE, RESEARCH, SYSTEMIC scleroderma, MEDICAL records, ACQUISITION of data, IMMUNOASSAY, DATA analysis software, CONFIDENCE intervals, SURVIVAL analysis (Biometry), MACHINE learning, MEMBRANE proteins, SEQUENCE analysis, IMMUNITY, BIOMARKERS, RHEUMATISM, HEALTH care teams, IMMUNOSUPPRESSION, DISEASE complications

Molecular mimicry in multisystem inflammatory syndrome in children.

Authors: Bodansky, Aaron, Mettelman, Robert C., Sabatino Jr, Joseph J., Vazquez, Sara E., Chou, Janet, Novak, Tanya, Moffitt, Kristin L., Miller, Haleigh S., Kung, Andrew F., Rackaityte, Elze, Zamecnik, Colin R., Rajan, Jayant V., Kortbawi, Hannah, Mandel-Brehm, Caleigh, Mitchell, Anthea, Wang, Chung-Yu, Saxena, Aditi, Zorn, Kelsey, Yu, David J. L., Pogorelyy, Mikhail V.

Source: Nature; Aug2024, Vol. 632 Issue 8025, p622-629, 8p

CD201 and CD27 identify hematopoietic stem and progenitor cells across multiple murine strains independently of Kit and Sca-1

Authors: Vazquez, Sara E., Inlay, Matthew A., Serwold, Thomas

Source: In Experimental Hematology July 2015 43(7):578-585

Vaccine breakthrough hypoxemic COVID-19 pneumonia in patients with auto-Abs neutralizing type I IFNs.

Authors: Bastard, Paul, Vazquez, Sara E., Liu, Jamin, Laurie, Matthew T., Wang, Chung Yu, Gervais, Adrian, Le Voyer, Tom, Bizien, Lucy, Zamecnik, Colin, Philippot, Quentin, Rosain, Jérémie, Catherinot, Emilie, Willmore, Andrew, Mitchell, Anthea M., Bair, Rebecca, Garçon, Pierre, Kenney, Heather, Fekkar, Arnaud, Salagianni, Maria, Poulakou, Garyphallia

Source: Science Immunology; 2023, Vol. 8 Issue 90, p1-14, 14p

Subject Terms: COVID-19, HYPOXEMIA, BREAKTHROUGH infections, COVID-19 vaccines, VACCINE effectiveness

Acute neuroretinitis as a delayed manifestation of tubulointerstitial nephritis and uveitis syndrome

Authors: Vazquez, Sara E., Niemeyer, Katherine, Mentreddy, Akshay, Gonzales, John, Rasool, Nailyn, Acharya, Nisha R., Doan, Thuy, Shantha, Jessica G.

Source: In American Journal of Ophthalmology Case Reports June 2024 34

Case report: Discovery of a de novo FAM111B pathogenic variant in a patient with an APECED-like clinical phenotype.

Authors: Ferré, Elise M. N., Yunting Yu, Oikonomou, Vasileios, Hilfanova, Anna, Lee, Chyi-Chia R., Rosen, Lindsey B., Burbelo, Peter D., Vazquez, Sara E., Anderson, Mark S., Barocha, Amisha, Heller, Theo, Soldatos, Ariane, Holland, Steven M., Walkiewicz, Magdalena A., Lionakis, Michail S.

Source: Frontiers in Immunology; 2/17/2023, Vol. 14, p1-8, 8p

Subject Terms: SINGLE nucleotide polymorphisms, DNA copy number variations, GENETIC variation, PHENOTYPES, PULMONARY fibrosis, MYOSITIS, HYPOPARATHYROIDISM

Autoantibodies to Perilipin-1 Define a Subset of Acquired Generalized Lipodystrophy.

Authors: Mandel-Brehm, Caleigh¹, Vazquez, Sara E.^1,2, Liverman, Christopher³, Cheng, Mickie², Quandt, Zoe^2,4, Kung, Andrew F.¹, Parent, Audrey², Miao, Brenda^1,2, Disse, Emmanuel^5,6, Cugnet-Anceau, Christine^5,6, Dalle, Stéphane^6,7, Orlova, Elizaveta⁸, Frolova, Elena⁹, Alba, Diana^2,4, Michels, Aaron¹⁰, Oftedal, Bergithe E.^11,12, Lionakis, Michail S.¹³, Husebye, Eystein S.^12,14, Agarwal, Anil K.¹⁵, Li, Xilong¹⁶

Source: Diabetes. Jan2023, Vol. 72 Issue 1, p59-70. 12p.

Subject Terms: *LIPODYSTROPHY, *AUTOIMMUNE diseases, *AUTOANTIBODIES, *RADIOLIGAND assay, *ADIPOSE tissues, *IMMUNOLOGICAL tolerance

Autoantibody discovery across monogenic, acquired, and COVID-19-associated autoimmunity with scalable PhIP-seq.

Authors: Vazquez, Sara E.^1,2,3, Mann, Sabrina A.^1,4, Bodansky, Aaron⁵, Kung, Andrew F.¹, Quandt, Zoe^2,6, Ferré, Elise M. N.⁷, Landegren, Nils^8,9, Eriksson, Daniel^10,11, Bastard, Paul^12,13,14,15, Shen-Ying Zhang^12,13,14, Jamin Liu^1,16, Mitchell, Anthea^1,4, Proekt, Irina², Yu, David², Mandel-Brehm, Caleigh¹, Chung-Yu Wang^1,4, Miao, Brenda¹, Sowa, Gavin³, Zorn, Kelsey¹, Chan, Alice Y.¹⁷

Source: eLife. 11/30/2022, p1-22. 22p.

Subject Terms: *MULTISYSTEM inflammatory syndrome in children, *AUTOANTIBODIES, *AUTOIMMUNITY, *MUCOCUTANEOUS lymph node syndrome, *AUTOIMMUNE diseases, *AUTOANTIGENS

ZSCAN1 Autoantibodies Are Associated with Pediatric Paraneoplastic ROHHAD.

Authors: Mandel‐Brehm, Caleigh, Benson, Leslie A., Tran, Baouyen, Kung, Andrew F., Mann, Sabrina A., Vazquez, Sara E., Retallack, Hanna, Sample, Hannah A., Zorn, Kelsey C., Khan, Lillian M., Kerr, Lauren M., McAlpine, Patrick L., Zhang, Lichao, McCarthy, Frank, Elias, Joshua E., Katwa, Umakanth, Astley, Christina M., Tomko, Stuart, Dalmau, Josep, Seeley, William W.

Source: Annals of Neurology; Aug2022, Vol. 92 Issue 2, p279-291, 13p

Subject Terms: HYPOVENTILATION, AUTOANTIBODIES, IMMUNOGLOBULIN G, LIGAND binding (Biochemistry), BINDING site assay, SUDDEN death

Severe Acute Respiratory Syndrome Coronavirus 2 (SARS-CoV-2) Transmission Dynamics and Immune Responses in a Household of Vaccinated Persons.

Authors: Liu, Jamin, Laurie, Matthew T, Rubio, Luis, Vazquez, Sara E, Sunshine, Sara, Mitchell, Anthea M, Hapte-Selassie, Matthias, Mann, Sabrina A, Pilarowski, Genay, Black, Douglas, Marquez, Carina, Rojas, Susana, Lionakis, Michail S, Petersen, Maya, Whitman, Jeffrey D, Jain, Vivek, Anderson, Mark, Havlir, Diane, DeRisi, Joseph

Source: Clinical Infectious Diseases; Jul2022, Vol. 75 Issue 1, pe303-e306, 4p

Subject Terms: SARS-CoV-2, IMMUNIZATION, COVID-19 vaccines, INTERFERONS, IMMUNITY

Clonally expanded B cells in multiple sclerosis bind EBV EBNA1 and GlialCAM.

Authors: Lanz, Tobias V., Brewer, R. Camille, Ho, Peggy P., Moon, Jae-Seung, Jude, Kevin M., Fernandez, Daniel, Fernandes, Ricardo A., Gomez, Alejandro M., Nadj, Gabriel-Stefan, Bartley, Christopher M., Schubert, Ryan D., Hawes, Isobel A., Vazquez, Sara E., Iyer, Manasi, Zuchero, J. Bradley, Teegen, Bianca, Dunn, Jeffrey E., Lock, Christopher B., Kipp, Lucas B., Cotham, Victoria C.

Source: Nature; 3/10/2022, Vol. 603 Issue 7900, p321-327, 7p

Type I interferon autoantibodies are associated with systemic immune alterations in patients with COVID-19.

Authors: van der Wijst, Monique G. P., Vazquez, Sara E., Hartoularos, George C., Bastard, Paul, Grant, Tianna, Bueno, Raymund, Lee, David S., Greenland, John R., Sun, Yang, Perez, Richard, Ogorodnikov, Anton, Ward, Alyssa, Mann, Sabrina A., Lynch, Kara L., Yun, Cassandra, Havlir, Diane V., Chamie, Gabriel, Marquez, Carina, Greenhouse, Bryan, Lionakis, Michail S.

Source: Science Translational Medicine; 9/22/2021, Vol. 13 Issue 612, p1-18, 18p

Subject Terms: COVID-19, AUTOANTIBODIES, TYPE I interferons, MONONUCLEAR leukocytes, MYELOID cells, COVID-19 pandemic, CELL populations

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The transcription factor Hhex cooperates with the corepressor Tle3 to promote memory B cell development

Authors: Laidlaw, Brian J., Duan, Lihui, Xu, Ying, Vazquez, Sara E., Cyster, Jason G.

Source: Nature Immunology; September 2020, Vol. 21 Issue: 9 p1082-1093, 12p

Kelch-like Protein 11 Antibodies in Seminoma-Associated Paraneoplastic Encephalitis.

Authors: Mandel-Brehm, Caleigh¹, Dubey, Divyanshu², Kryzer, Thomas J.², O'Donovan, Brian D.¹, Tran, Baouyen³, Vazquez, Sara E.¹, Sample, Hannah A.¹, Zorn, Kelsey C.¹, Khan, Lillian M.¹, Bledsoe, Ian O.³, McKeon, Andrew², Pleasure, Samuel J.², Lennon, Vanda A.⁴, DeRisi, Joseph L.¹, Wilson, Michael R.⁴, Pittock, Sean J.⁴

Source: New England Journal of Medicine; Jul2019, Vol. 381 Issue 1, p47-54, 8p

Neutralizing Autoantibodies to Type I Interferons in COVID-19 Convalescent Donor Plasma.

Authors: Vazquez, Sara E.¹ (AUTHOR) sara.vazquez@ucsf.edu, Bastard, Paul^2,3,4 (AUTHOR), Kelly, Kathleen⁵ (AUTHOR), Gervais, Adrian^2,3 (AUTHOR), Norris, Philip J.^1,5 (AUTHOR), Dumont, Larry J.^5,6,7 (AUTHOR), Casanova, Jean-Laurent^2,3,4,8 (AUTHOR), Anderson, Mark S.¹ (AUTHOR), DeRisi, Joseph L.^1,9 (AUTHOR)

Source: Journal of Clinical Immunology. Aug2021, Vol. 41 Issue 6, p1169-1171. 3p.

Subject Terms: *CONVALESCENT plasma, *TYPE I interferons, *COVID-19, *AUTOANTIBODIES, *RENILLA luciferase

NFKB2 haploinsufficiency identified via screening for IFN-α2 autoantibodies in children and adolescents hospitalized with SARS-CoV-2–related complications.

Authors: Bodansky, Aaron, Vazquez, Sara E., Chou, Janet, Novak, Tanya, Al-Musa, Amer, Young, Cameron, Newhams, Margaret, Kucukak, Suden, Zambrano, Laura D., Mitchell, Anthea, Wang, Chung-Yu, Moffitt, Kristin, Halasa, Natasha B., Loftis, Laura L., Schwartz, Stephanie P., Walker, Tracie C., Mack, Elizabeth H., Fitzgerald, Julie C., Gertz, Shira J., Rowan, Courtney M.

Source: Journal of Allergy & Clinical Immunology; Apr2023, Vol. 151 Issue 4, p926-926, 1p

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