Mark Anderson, MD, PhD

Professor of Medicine
Robert B. Friend and Michelle M. Friend Endowed Chair in Diabetes Research
Diabetes Center
+1 415 502-8052

EDUCATION/CLINICAL TRAINING
MD: MD, PhD, University of Chicago, 1994
Residency: University of Minnesota, MD, Internal Medicine, 1994-1997
Chief Resident, University of Minnesota 1997-1998
Fellowship: Massachusetts General Hospital, Adult Endocrinology, 1998-2001
Board Certification: Endocrinology and Metabolism, 2001, Renewed 2012

ACADEMIC INTERESTS
The main research interest of our laboratory group is to examine the genetic control of autoimmune diseases to gain a better understanding of the mechanisms by which immune tolerance is broken. A major focus of our lab group is a human autoimmune syndrome called Autoimmune Polyglandular Syndrome Type 1 (APS1 or APECED), which is classically manifested by an autoimmune attack directed at multiple endocrine organs. This disease is inherited in a monogenic autosomal recessive fashion and the defective gene has been identified and is called Aire (for autoimmune regulator). Aire knockout mice, like their human counterparts, develop an autoimmune disease that is targeted to multiple organs. Through the use of the mouse model we, along with others, have determined that Aire plays an important role in immune tolerance by promoting the expression of many self proteins in specialized antigen presenting cells in the thymus called medullary epithelial cells (mTEC’s).

Recently, we have determined that this process is not only critical in the thymus, but also in peripheral lymphoid organs. Current studies in the lab are directed at further understanding the relative contribution of specialized Aire-expressing cells to immune tolerance in multiple autoimmune disease models. In addition to these ongoing studies, our laboratory is also interested the pathogenesis of autoimmune diabetes and in developing other models of autoimmune disease by using transgenic, knockout, and knock-in approaches.

CLINICAL INTERESTS:
Type 1 diabetes and associated autoimmune disorders

Appointments: 415-353-2350

Publications: 

Rare neutralizing IFN-γ autoantibodies in HLA-DRB1* 15:02 or 16:02 individuals confer susceptibility to mycobacterial infections.

The Journal of clinical investigation

Peel JN, Yang R, Le Voyer T, Gervais A, Rosain J, Bastard P, Behere A, Cederholm A, Bodansky A, Seeleuthner Y, Conil C, Ding JY, Lei WT, Bizien L, Soudee C, Migaud M, Ogishi M, Yatim A, Lee D, Bohlen J, Perpoint T, Perez L, Messina F, Genet R, Karkowski L, Blot M, Lafont E, Toullec L, Goulvestre C, Mehlal-Sedkaoui S, Sallette J, Martin F, Puel A, Jouanguy E, Anderson MS, Landegren N, Tiberghien P, Abel L, Boisson-Dupuis S, Bustamante J, Ku CL, Casanova JL

Aire in Autoimmunity.

Annual review of immunology

Miller CN, Waterfield MR, Gardner JM, Anderson MS

Ehf and Fezf2 regulate late medullary thymic epithelial cell and thymic tuft cell development.

Frontiers in immunology

Lammers S, Barrera V, Brennecke P, Miller C, Yoon J, Balolong J, Anderson MS, Ho Sui S, Steinmetz LM, von Andrian UH, Rattay K

Tracking the role of Aire in immune tolerance to the eye with a TCR transgenic mouse model.

Proceedings of the National Academy of Sciences of the United States of America

Yin M, Smith JA, Chou M, Chan J, Jittayasothorn Y, Gould DB, Caspi RR, Anderson MS, DeFranco AL

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

Science immunology

Bastard P, Vazquez S, Liu J, Laurie MT, Wang CY, Gervais A, Le Voyer T, Bizien L, Zamecnik C, Philippot Q, Rosain J, Catherinot E, Willmore A, Mitchell AM, Bair R, Garçon P, Kenney H, Fekkar A, Salagianni M, Poulakou G, Siouti E, Sahanic S, Tancevski I, Weiss G, Nagl L, Manry J, Duvlis S, Arroyo-Sánchez D, Paz Artal E, Rubio L, Perani C, Bezzi M, Sottini A, Quaresima V, Roussel L, Vinh DC, Reyes LF, Garzaro M, Hatipoglu N, Boutboul D, Tandjaoui-Lambiotte Y, Borghesi A, Aliberti A, Cassaniti I, Venet F, Monneret G, Halwani R, Sharif-Askari NS, Danielson J, Burrel S, Morbieu C, Stepanovskyy Y, Bondarenko A, Volokha A, Boyarchuk O, Gagro A, Neuville M, Neven B, Keles S, Hernu R, Bal A, Novelli A, Novelli G, Saker K, Ailioaie O, Antolí A, Jeziorski E, Rocamora-Blanch G, Teixeira C, Delaunay C, Lhuillier M, Le Turnier P, Zhang Y, Mahevas M, Pan-Hammarström Q, Abolhassani H, Bompoil T, Dorgham K, COVID HGE consortium † , French COVID study group † , COMET consortium † , Gorochov G, Laouenan C, Rodríguez-Gallego C, Ng LFP, Renia L, Pujol A, Belot A, Raffi F, Allende LM, Martinez-Picado J, Ozcelik T, Keles S, Imberti L, Notarangelo LD, Troya J, Solanich X, Zhang SY, Puel A, Wilson MR, Trouillet-Assant S, Abel L, Jouanguy E, Ye CJ, Cobat A, Thompson LM, Andreakos E, Zhang Q, Anderson MS, Casanova JL, DeRisi JL

Unveiling the autoreactome: Proteome-wide immunological fingerprints reveal the promise of plasma cell depleting therapy.

medRxiv : the preprint server for health sciences

Bodansky A, Yu DJ, Rallistan A, Kalaycioglu M, Boonyaratanakornkit J, Green DJ, Gauthier J, Turtle CJ, Zorn K, O'Donovan B, Mandel-Brehm C, Asaki J, Kortbawi H, Kung AF, Rackaityte E, Wang CY, Saxena A, de Dios K, Masi G, Nowak RJ, O'Connor KC, Li H, Diaz VE, Casaletto KB, Gontrum EQ, Chan B, Kramer JH, Wilson MR, Utz PJ, Hill JA, Jackson SW, Anderson MS, DeRisi JL

Validation of a murine proteome-wide phage display library for identification of autoantibody specificities.

JCI insight

Rackaityte E, Proekt I, Miller HS, Ramesh A, Brooks JF, Kung AF, Mandel-Brehm C, Yu DJ, Zamecnik CR, Bair R, Vazquez SE, Sunshine S, Abram CL, Lowell CA, Rizzuto G, Wilson MR, Zikherman J, Anderson MS, DeRisi JL

Autoantibodies against type I IFNs in humans with alternative NF-κB pathway deficiency.

Nature

Le Voyer T, Parent AV, Liu X, Cederholm A, Gervais A, Rosain J, Nguyen T, Perez Lorenzo M, Rackaityte E, Rinchai D, Zhang P, Bizien L, Hancioglu G, Ghillani-Dalbin P, Charuel JL, Philippot Q, Gueye MS, Maglorius Renkilaraj MRL, Ogishi M, Soudée C, Migaud M, Rozenberg F, Momenilandi M, Riller Q, Imberti L, Delmonte OM, Müller G, Keller B, Orrego J, Franco Gallego WA, Rubin T, Emiroglu M, Parvaneh N, Eriksson D, Aranda-Guillen M, Berrios DI, Vong L, Katelaris CH, Mustillo P, Raedler J, Bohlen J, Bengi Celik J, Astudillo C, Winter S, NF-?B Consortium, COVID Human Genetic Effort, McLean C, Guffroy A, DeRisi JL, Yu D, Miller C, Feng Y, Guichard A, Béziat V, Bustamante J, Pan-Hammarström Q, Zhang Y, Rosen LB, Holland SM, Bosticardo M, Kenney H, Castagnoli R, Slade CA, Boztug K, Mahlaoui N, Latour S, Abraham RS, Lougaris V, Hauck F, Sediva A, Atschekzei F, Sogkas G, Poli MC, Slatter MA, Palterer B, Keller MD, Pinzon-Charry A, Sullivan A, Droney L, Suan D, Wong M, Kane A, Hu H, Ma C, Grombiríková H, Ciznar P, Dalal I, Aladjidi N, Hie M, Lazaro E, Franco J, Keles S, Malphettes M, Pasquet M, Maccari ME, Meinhardt A, Ikinciogullari A, Shahrooei M, Celmeli F, Frosk P, Goodnow CC, Gray PE, Belot A, Kuehn HS, Rosenzweig SD, Miyara M, Licciardi F, Servettaz A, Barlogis V, Le Guenno G, Herrmann VM, Kuijpers T, Ducoux G, Sarrot-Reynauld F, Schuetz C, Cunningham-Rundles C, Rieux-Laucat F, Tangye SG, Sobacchi C, Doffinger R, Warnatz K, Grimbacher B, Fieschi C, Berteloot L, Bryant VL, Trouillet Assant S, Su H, Neven B, Abel L, Zhang Q, Boisson B, Cobat A, Jouanguy E, Kampe O, Bastard P, Roifman CM, Landegren N, Notarangelo LD, Anderson MS, Casanova JL, Puel A

Ikaros is a principal regulator of Aire+ mTEC homeostasis, thymic mimetic cell diversity, and central tolerance.

Science immunology

Sin JH, Sucharov J, Kashyap S, Wang Y, Proekt I, Liu X, Parent AV, Gupta A, Kastner P, Chan S, Gardner JM, Ntranos V, Miller CN, Anderson MS, Schjerven H, Waterfield MR

Immunosuppression causes dynamic changes in expression QTLs in psoriatic skin.

Nature communications

Xiao Q, Mears J, Nathan A, Ishigaki K, Baglaenko Y, Lim N, Cooney LA, Harris KM, Anderson MS, Fox DA, Smilek DE, Krueger JG, Raychaudhuri S

T cell deletional tolerance restricts AQP4 but not MOG CNS autoimmunity.

Proceedings of the National Academy of Sciences of the United States of America

Sagan SA, Moinfar Z, Moseley CE, Dandekar R, Spencer CM, Verkman AS, Ottersen OP, Sobel RA, Sidney J, Sette A, Anderson MS, Steinman L, Wilson MR, Sabatino JJ, Zamvil SS

Autoantigen profiling reveals a shared post-COVID signature in fully recovered and long COVID patients.

JCI insight

Bodansky A, Wang CY, Saxena A, Mitchell A, Kung AF, Takahashi S, Anglin K, Huang B, Hoh R, Lu S, Goldberg SA, Romero J, Tran B, Kirtikar R, Grebe H, So M, Greenhouse B, Durstenfeld MS, Hsue PY, Hellmuth J, Kelly JD, Martin JN, Anderson MS, Deeks SG, Henrich TJ, DeRisi JL, Peluso MJ

A genomic data archive from the Network for Pancreatic Organ donors with Diabetes.

Scientific data

Perry DJ, Shapiro MR, Chamberlain SW, Kusmartseva I, Chamala S, Balzano-Nogueira L, Yang M, Brant JO, Brusko M, Williams MD, McGrail KM, McNichols J, Peters LD, Posgai AL, Kaddis JS, Mathews CE, Wasserfall CH, Webb-Robertson BM, Campbell-Thompson M, Schatz D, Evans-Molina C, Pugliese A, Concannon P, Anderson MS, German MS, Chamberlain CE, Atkinson MA, Brusko TM

Abatacept for Delay of Type 1 Diabetes Progression in Stage 1 Relatives at Risk: A Randomized, Double-Masked, Controlled Trial.

Diabetes care

Russell WE, Bundy BN, Anderson MS, Cooney LA, Gitelman SE, Goland RS, Gottlieb PA, Greenbaum CJ, Haller MJ, Krischer JP, Libman IM, Linsley PS, Long SA, Lord SM, Moore DJ, Moore WV, Moran AM, Muir AB, Raskin P, Skyler JS, Wentworth JM, Wherrett DK, Wilson DM, Ziegler AG, Herold KC, Type 1 Diabetes TrialNet Study Group

ABCC8-Related Monogenic Diabetes Presenting Like Type 1 Diabetes in an Adolescent.

AACE clinical case reports

Grier AE, McGill JB, Lord SM, Speake C, Greenbaum C, Chamberlain CE, German MS, Anderson MS, Hirsch IB

Validation of a murine proteome-wide phage display library for the identification of autoantibody specificities.

bioRxiv : the preprint server for biology

Rackaityte E, Proekt I, Miller HS, Ramesh A, Brooks JF, Kung AF, Mandel-Brehm C, Yu D, Zamecnik C, Bair R, Vazquez SE, Sunshine S, Abram CL, Lowell CA, Rizzuto G, Wilson MR, Zikherman J, Anderson MS, DeRisi JL

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

Frontiers in immunology

Ferr? 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

Autoantigen profiling reveals a shared post-COVID signature in fully recovered and Long COVID patients.

medRxiv : the preprint server for health sciences

Bodansky A, Wang CY, Saxena A, Mitchell A, Takahashi S, Anglin K, Huang B, Hoh R, Lu S, Goldberg SA, Romero J, Tran B, Kirtikar R, Grebe H, So M, Greenhouse B, Durstenfeld MS, Hsue PY, Hellmuth J, Kelly JD, Martin JN, Anderson MS, Deeks SG, Henrich TJ, DeRisi JL, Peluso MJ

Unlocking life-threatening COVID-19 through two types of inborn errors of type I IFNs.

The Journal of clinical investigation

Casanova JL, Anderson MS

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

Diabetes

Mandel-Brehm C, Vazquez SE, Liverman C, Cheng M, Quandt Z, Kung AF, Parent A, Miao B, Disse E, Cugnet-Anceau C, Dalle S, Orlova E, Frolova E, Alba D, Michels A, Oftedal BE, Lionakis MS, Husebye ES, Agarwal AK, Li X, Zhu C, Li Q, Oral E, Brown R, Anderson MS, Garg A, DeRisi JL

Prevalence of type-1 interferon autoantibodies in adults with non-COVID-19 acute respiratory failure.

Respiratory research

Ghale R, Spottiswoode N, Anderson MS, Mitchell A, Wang G, Calfee CS, DeRisi JL, Langelier CR

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

eLife

Vazquez SE, Mann SA, Bodansky A, Kung AF, Quandt Z, Ferré EMN, Landegren N, Eriksson D, Bastard P, Zhang SY, Liu J, Mitchell A, Proekt I, Yu D, Mandel-Brehm C, Wang CY, Miao B, Sowa G, Zorn K, Chan AY, Tagi VM, Shimizu C, Tremoulet A, Lynch K, Wilson MR, Kämpe O, Dobbs K, Delmonte OM, Bacchetta R, Notarangelo LD, Burns JC, Casanova JL, Lionakis MS, Torgerson TR, Anderson MS, DeRisi JL

Engineered human cytokine/antibody fusion proteins expand regulatory T�cells and confer autoimmune disease protection.

Cell reports

VanDyke D, Iglesias M, Tomala J, Young A, Smith J, Perry JA, Gebara E, Cross AR, Cheung LS, Dykema AG, Orcutt-Jahns BT, Henclov? T, Golias J, Balolong J, Tomasovic LM, Funda D, Meyer AS, Pardoll DM, Hester J, Issa F, Hunter CA, Anderson MS, Bluestone JA, Raimondi G, Spangler JB

Publisher Correction: A ROR?t+ cell instructs gut microbiota-specific Treg cell differentiation.

Nature

Kedmi R, Najar TA, Mesa KR, Grayson A, Kroehling L, Hao Y, Hao S, Pokrovskii M, Xu M, Talbot J, Wang J, Germino J, Lareau CA, Satpathy AT, Anderson MS, Laufer TM, Aifantis I, Bartleson JM, Allen PM, Paidassi H, Gardner JM, Stoeckius M, Littman DR

Immune cells and their inflammatory mediators modify beta cells and cause checkpoint inhibitor-induced diabetes.

JCI insight

Perdigoto AL, Deng S, Du KC, Kuchroo M, Burkhardt DB, Tong A, Israel G, Robert ME, Weisberg SP, Kirkiles-Smith N, Stamatouli AM, Kluger HM, Quandt Z, Young A, Yang ML, Mamula MJ, Pober JS, Anderson MS, Krishnaswamy S, Herold KC

A ROR?t+ cell instructs gut microbiota-specific Treg cell differentiation.

Nature

Kedmi R, Najar TA, Mesa KR, Grayson A, Kroehling L, Hao Y, Hao S, Pokrovskii M, Xu M, Talbot J, Wang J, Germino J, Lareau CA, Satpathy AT, Anderson MS, Laufer TM, Aifantis I, Bartleson JM, Allen PM, Paidassi H, Gardner JM, Stoeckius M, Littman DR

The risk of COVID-19 death is much greater and age dependent with type I IFN autoantibodies.

Proceedings of the National Academy of Sciences of the United States of America

Manry J, Bastard P, Gervais A, Le Voyer T, Rosain J, Philippot Q, Michailidis E, Hoffmann HH, Eto S, Garcia-Prat M, Bizien L, Parra-Martínez A, Yang R, Haljasmägi L, Migaud M, Särekannu K, Maslovskaja J, de Prost N, Tandjaoui-Lambiotte Y, Luyt CE, Amador-Borrero B, Gaudet A, Poissy J, Morel P, Richard P, Cognasse F, Troya J, Trouillet-Assant S, Belot A, Saker K, Garçon P, Rivière JG, Lagier JC, Gentile S, Rosen LB, Shaw E, Morio T, Tanaka J, Dalmau D, Tharaux PL, Sene D, Stepanian A, Mégarbane B, Triantafyllia V, Fekkar A, Heath JR, Franco JL, Anaya JM, Solé-Violán J, Imberti L, Biondi A, Bonfanti P, Castagnoli R, Delmonte OM, Zhang Y, Snow AL, Holland SM, Biggs CM, Moncada-Vélez M, Arias AA, Lorenzo L, Boucherit S, Anglicheau D, Planas AM, Haerynck F, Duvlis S, Ozcelik T, Keles S, Bousfiha AA, El Bakkouri J, Ramirez-Santana C, Paul S, Pan-Hammarström Q, Hammarström L, Dupont A, Kurolap A, Metz CN, Aiuti A, Casari G, Lampasona V, Ciceri F, Barreiros LA, Dominguez-Garrido E, Vidigal M, Zatz M, van de Beek D, Sahanic S, Tancevski I, Stepanovskyy Y, Boyarchuk O, Nukui Y, Tsumura M, Vidaur L, Tangye SG, Burrel S, Duffy D, Quintana-Murci L, Klocperk A, Kann NY, Shcherbina A, Lau YL, Leung D, Coulongeat M, Marlet J, Koning R, Reyes LF, Chauvineau-Grenier A, Venet F, Monneret G, Nussenzweig MC, Arrestier R, Boudhabhay I, Baris-Feldman H, Hagin D, Wauters J, Meyts I, Dyer AH, Kennelly SP, Bourke NM, Halwani R, Sharif-Askari FS, Dorgham K, Sallette J, Sedkaoui SM, AlKhater S, Rigo-Bonnin R, Morandeira F, Roussel L, Vinh DC, Erikstrup C, Condino-Neto A, Prando C, Bondarenko A, Spaan AN, Gilardin L, Fellay J, Lyonnet S, Bilguvar K, Lifton RP, Mane S, HGID Lab, COVID Clinicians, COVID-STORM Clinicians, NIAID Immune Response to COVID Group, NH-COVAIR Study Group, Danish CHGE, Danish Blood Donor Study, St. James's Hospital, SARS CoV2 Interest Group, French COVID Cohort Study Group, Imagine COVID-Group, Milieu Intérieur Consortium, CoV-Contact Cohort, Amsterdam UMC Covid-19 Biobank Investigators, COVID Human Genetic Effort, CP-COVID-19 Group, CONSTANCES cohort, 3C-Dijon Study, Cerba Health-Care, Etablissement Français du Sang Study group, Anderson MS, Boisson B, Béziat V, Zhang SY, Andreakos E, Hermine O, Pujol A, Peterson P, Mogensen TH, Rowen L, Mond J, Debette S, de Lamballerie X, Burdet C, Bouadma L, Zins M, Soler-Palacin P, Colobran R, Gorochov G, Solanich X, Susen S, Martinez-Picado J, Raoult D, Vasse M, Gregersen PK, Piemonti L, Rodríguez-Gallego C, Notarangelo LD, Su HC, Kisand K, Okada S, Puel A, Jouanguy E, Rice CM, Tiberghien P, Zhang Q, Casanova JL, Abel L, Cobat A

Autoantibody discovery across monogenic, acquired, and COVID19-associated autoimmunity with scalable PhIP-Seq.

bioRxiv : the preprint server for biology

Vazquez SE, Mann SA, Bodansky A, Kung AF, Quandt Z, Ferré EMN, Landegren N, Eriksson D, Bastard P, Zhang SY, Liu J, Mitchell A, Mandel-Brehm C, Miao B, Sowa G, Zorn K, Chan AY, Shimizu C, Tremoulet A, Lynch K, Wilson MR, Kampe O, Dobbs K, Delmonte OM, Notarangelo LD, Burns JC, Casanova JL, Lionakis MS, Torgerson TR, Anderson MS, DeRisi JL

Clonally Expanded B Cells in Multiple Sclerosis Bind EBV EBNA1 and GlialCAM.

Nature

Lanz TV, Brewer RC, Ho PP, Moon JS, Jude KM, Fernandez D, Fernandes RA, Gomez AM, Nadj GS, Bartley CM, Schubert RD, Hawes IA, Vazquez SE, Iyer M, Zuchero JB, Teegen B, Dunn JE, Lock CB, Kipp LB, Cotham VC, Ueberheide BM, Aftab BT, Anderson MS, DeRisi JL, Wilson MR, Bashford-Rogers RJM, Platten M, Garcia KC, Steinman L, Robinson WH

Modeling human T1D-associated autoimmune processes.

Molecular metabolism

Khosravi-Maharlooei M, Madley R, Borsotti C, Ferreira LMR, Sharp RC, Brehm MA, Greiner DL, Parent AV, Anderson MS, Sykes M, Creusot RJ

Single-cell multiomics defines tolerogenic extrathymic Aire-expressing populations with unique homology to thymic epithelium.

Science immunology

Wang J, Lareau CA, Bautista JL, Gupta AR, Sandor K, Germino J, Yin Y, Arvedson MP, Reeder GC, Cramer NT, Xie F, Ntranos V, Satpathy AT, Anderson MS, Gardner JM

Response to Comments on "Aberrant type 1 immunity drives susceptibility to mucosal fungal infections".

Science (New York, N.Y.)

Break TJ, Oikonomou V, Dutzan N, Desai JV, Swidergall M, Freiwald T, Chauss D, Harrison OJ, Alejo J, Williams DW, Pittaluga S, Lee CR, Bouladoux N, Swamydas M, Hoffman KW, Greenwell-Wild T, Bruno VM, Rosen LB, Lwin W, Renteria A, Pontejo SM, Shannon JP, Myles IA, Olbrich P, Ferré EMN, Schmitt M, Martin D, Genomics and Computational Biology Core16 , Barber DL, Solis NV, Notarangelo LD, Serreze DV, Matsumoto M, Hickman HD, Murphy PM, Anderson MS, Lim JK, Holland SM, Filler SG, Afzali B, Belkaid Y, Moutsopoulos NM, Lionakis MS

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

Science translational medicine

van der Wijst MGP, Vazquez SE, Hartoularos GC, Bastard P, Grant T, Bueno R, Lee DS, Greenland JR, Sun Y, Perez R, Ogorodnikov A, Ward A, Mann SA, Lynch KL, Yun C, Havlir DV, Chamie G, Marquez C, Greenhouse B, Lionakis MS, Norris PJ, Dumont LJ, Kelly K, Zhang P, Zhang Q, Gervais A, Le Voyer T, Whatley A, Si Y, Byrne A, Combes AJ, Rao AA, Song YS, Fragiadakis GK, Kangelaris K, Calfee CS, Erle DJ, Hendrickson C, Krummel MF, Woodruff PG, Langelier CR, Casanova JL, Derisi JL, Anderson MS, Ye CJ, UCSF COMET consortium

Autoantibodies neutralizing type I IFNs are present in ~4% of uninfected individuals over 70 years old and account for ~20% of COVID-19 deaths.

Science immunology

Bastard P, Gervais A, Le Voyer T, Rosain J, Philippot Q, Manry J, Michailidis E, Hoffmann HH, Eto S, Garcia-Prat M, Bizien L, Parra-Martínez A, Yang R, Haljasmägi L, Migaud M, Särekannu K, Maslovskaja J, de Prost N, Tandjaoui-Lambiotte Y, Luyt CE, Amador-Borrero B, Gaudet A, Poissy J, Morel P, Richard P, Cognasse F, Troya J, Trouillet-Assant S, Belot A, Saker K, Garçon P, Rivière JG, Lagier JC, Gentile S, Rosen LB, Shaw E, Morio T, Tanaka J, Dalmau D, Tharaux PL, Sene D, Stepanian A, Megarbane B, Triantafyllia V, Fekkar A, Heath JR, Franco JL, Anaya JM, Solé-Violán J, Imberti L, Biondi A, Bonfanti P, Castagnoli R, Delmonte OM, Zhang Y, Snow AL, Holland SM, Biggs C, Moncada-Vélez M, Arias AA, Lorenzo L, Boucherit S, Coulibaly B, Anglicheau D, Planas AM, Haerynck F, Duvlis S, Nussbaum RL, Ozcelik T, Keles S, Bousfiha AA, El Bakkouri J, Ramirez-Santana C, Paul S, Pan-Hammarström Q, Hammarström L, Dupont A, Kurolap A, Metz CN, Aiuti A, Casari G, Lampasona V, Ciceri F, Barreiros LA, Dominguez-Garrido E, Vidigal M, Zatz M, van de Beek D, Sahanic S, Tancevski I, Stepanovskyy Y, Boyarchuk O, Nukui Y, Tsumura M, Vidaur L, Tangye SG, Burrel S, Duffy D, Quintana-Murci L, Klocperk A, Kann NY, Shcherbina A, Lau YL, Leung D, Coulongeat M, Marlet J, Koning R, Reyes LF, Chauvineau-Grenier A, Venet F, Monneret G, Nussenzweig MC, Arrestier R, Boudhabhay I, Baris-Feldman H, Hagin D, Wauters J, Meyts I, Dyer AH, Kennelly SP, Bourke NM, Halwani R, Sharif-Askari NS, Dorgham K, Sallette J, Sedkaoui SM, AlKhater S, Rigo-Bonnin R, Morandeira F, Roussel L, Vinh DC, Ostrowski SR, Condino-Neto A, Prando C, Bonradenko A, Spaan AN, Gilardin L, Fellay J, Lyonnet S, Bilguvar K, Lifton RP, Mane S, HGID Lab , COVID Clinicians , COVID-STORM Clinicians , NIAID Immune Response to COVID Group , NH-COVAIR Study Group , Danish CHGE , Danish Blood Donor Study , St. James's Hospital , SARS CoV2 Interest group , French COVID Cohort Study Group , Imagine COVID-Group , Milieu Intérieur Consortium , CoV-Contact Cohort , Amsterdam UMC Covid-19 , Biobank Investigators , COVID Human Genetic Effort , CONSTANCES cohort , 3C-Dijon Study , Cerba Health-Care , Etablissement du Sang study group , Anderson MS, Boisson B, Béziat V, Zhang SY, Vandreakos E, Hermine O, Pujol A, Peterson P, Mogensen TH, Rowen L, Mond J, Debette S, de Lamballerie X, Duval X, Mentré F, Zins M, Soler-Palacin P, Colobran R, Gorochov G, Solanich X, Susen S, Martinez-Picado J, Raoult D, Vasse M, Gregersen PK, Piemonti L, Rodríguez-Gallego C, Notarangelo LD, Su HC, Kisand K, Okada S, Puel A, Jouanguy E, Rice CM, Tiberghien P, Zhang Q, Cobat A, Abel L, Casanova JL

Extrathymic Aire-expressing cells support maternal-fetal tolerance.

Science immunology

Gillis-Buck E, Miller H, Sirota M, Sanders SJ, Ntranos V, Anderson MS, Gardner JM, MacKenzie TC

Diabetes With Multiple Autoimmune and Inflammatory Conditions Linked to an Activating SKAP2 Mutation.

Diabetes care

Rutsch N, Chamberlain CE, Dixon W, Spector L, Letourneau-Freiberg LR, Lwin WW, Philipson LH, Zarbock A, Saintus K, Wang J, German MS, Anderson MS, Lowell CA

A human mutation in STAT3 promotes type 1 diabetes through a defect in CD8+ T cell tolerance.

The Journal of experimental medicine

Warshauer JT, Belk JA, Chan AY, Wang J, Gupta AR, Shi Q, Skartsis N, Peng Y, Phipps JD, Acenas D, Smith JA, Tamaki SJ, Tang Q, Gardner JM, Satpathy AT, Anderson MS

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

Journal of clinical immunology

Vazquez SE, Bastard P, Kelly K, Gervais A, Norris PJ, Dumont LJ, Casanova JL, Anderson MS, DeRisi JL

Single cell transcriptome analysis defines heterogeneity of the murine pancreatic ductal tree.

eLife

Hendley AM, Rao AA, Leonhardt L, Ashe S, Smith JA, Giacometti S, Peng XL, Jiang H, Berrios D, Pawlak M, Li LY, Lee J, Collisson EA, Anderson MS, Fragiadakis GK, Yeh JJ, Chun JY, Kim GE, Weaver VM, Hebrok M

Longitudinal single-cell epitope and RNA-sequencing reveals the immunological impact of type 1 interferon autoantibodies in critical COVID-19.

bioRxiv : the preprint server for biology

van der Wijst MGP, Vazquez SE, Hartoularos GC, Bastard P, Grant T, Bueno R, Lee DS, Greenland JR, Sun Y, Perez R, Ogorodnikov A, Ward A, Mann SA, Lynch KL, Yun C, Havlir DV, Chamie G, Marquez C, Greenhouse B, Lionakis MS, Norris PJ, Dumont LJ, Kelly K, Zhang P, Zhang Q, Gervais A, Voyer TL, Whatley A, Si Y, Byrne A, Combes AJ, Rao AA, Song YS, UCSF COMET consortium , Fragiadakis GK, Kangelaris K, Calfee CS, Erle DJ, Hendrickson C, Krummel MF, Woodruff PG, Langelier CR, Casanova JL, Derisi JL, Anderson MS, Ye CJ

Single-cell transcriptional profiling of human thymic stroma uncovers novel cellular heterogeneity in the thymic medulla.

Nature communications

Bautista JL, Cramer NT, Miller CN, Chavez J, Berrios DI, Byrnes LE, Germino J, Ntranos V, Sneddon JB, Burt TD, Gardner JM, Ye CJ, Anderson MS, Parent AV

Aberrant type 1 immunity drives susceptibility to mucosal fungal infections.

Science (New York, N.Y.)

Break TJ, Oikonomou V, Dutzan N, Desai JV, Swidergall M, Freiwald T, Chauss D, Harrison OJ, Alejo J, Williams DW, Pittaluga S, Lee CR, Bouladoux N, Swamydas M, Hoffman KW, Greenwell-Wild T, Bruno VM, Rosen LB, Lwin W, Renteria A, Pontejo SM, Shannon JP, Myles IA, Olbrich P, Ferré EMN, Schmitt M, Martin D, Barber DL, Solis NV, Notarangelo LD, Serreze DV, Matsumoto M, Hickman HD, Murphy PM, Anderson MS, Lim JK, Holland SM, Filler SG, Afzali B, Belkaid Y, Moutsopoulos NM, Lionakis MS

More on STAT1 Gain of Function, Type 1 Diabetes, and JAK Inhibition. Reply.

The New England journal of medicine

Anderson MS, Chaimowitz NS, Forbes LR

Combined transient ablation and single cell RNA sequencing reveals the development of medullary thymic epithelial cells.

eLife

Wells KL, Miller CN, Gschwind AR, Wei W, Phipps JD, Anderson MS, Steinmetz LM

STAT1 Gain of Function, Type 1 Diabetes, and Reversal with JAK Inhibition.

The New England journal of medicine

Chaimowitz NS, Ebenezer SJ, Hanson IC, Anderson M, Forbes LR

Autoantibodies against type I IFNs in patients with life-threatening COVID-19.

Science (New York, N.Y.)

Bastard P, Rosen LB, Zhang Q, Michailidis E, Hoffmann HH, Zhang Y, Dorgham K, Philippot Q, Rosain J, Béziat V, Manry J, Shaw E, Haljasmägi L, Peterson P, Lorenzo L, Bizien L, Trouillet-Assant S, Dobbs K, de Jesus AA, Belot A, Kallaste A, Catherinot E, Tandjaoui-Lambiotte Y, Le Pen J, Kerner G, Bigio B, Seeleuthner Y, Yang R, Bolze A, Spaan AN, Delmonte OM, Abers MS, Aiuti A, Casari G, Lampasona V, Piemonti L, Ciceri F, Bilguvar K, Lifton RP, Vasse M, Smadja DM, Migaud M, Hadjadj J, Terrier B, Duffy D, Quintana-Murci L, van de Beek D, Roussel L, Vinh DC, Tangye SG, Haerynck F, Dalmau D, Martinez-Picado J, Brodin P, Nussenzweig MC, Boisson-Dupuis S, Rodríguez-Gallego C, Vogt G, Mogensen TH, Oler AJ, Gu J, Burbelo PD, Cohen JI, Biondi A, Bettini LR, D'Angio M, Bonfanti P, Rossignol P, Mayaux J, Rieux-Laucat F, Husebye ES, Fusco F, Ursini MV, Imberti L, Sottini A, Paghera S, Quiros-Roldan E, Rossi C, Castagnoli R, Montagna D, Licari A, Marseglia GL, Duval X, Ghosn J

Inborn errors of type I IFN immunity in patients with life-threatening COVID-19.

Science (New York, N.Y.)

Zhang Q, Bastard P, Liu Z, Le Pen J, Moncada-Velez M, Chen J, Ogishi M, Sabli IKD, Hodeib S, Korol C, Rosain J, Bilguvar K, Ye J, Bolze A, Bigio B, Yang R, Arias AA, Zhou Q, Zhang Y, Onodi F, Korniotis S, Karpf L, Philippot Q, Chbihi M, Bonnet-Madin L, Dorgham K, Smith N, Schneider WM, Razooky BS, Hoffmann HH, Michailidis E, Moens L, Han JE, Lorenzo L, Bizien L, Meade P, Neehus AL, Ugurbil AC, Corneau A, Kerner G, Zhang P, Rapaport F, Seeleuthner Y, Manry J, Masson C, Schmitt Y, Schlüter A, Le Voyer T, Khan T, Li J, Fellay J, Roussel L, Shahrooei M, Alosaimi MF, Mansouri D, Al-Saud H, Al-Mulla F, Almourfi F, Al-Muhsen SZ, Alsohime F, Al Turki S, Hasanato R, van de Beek D, Biondi A, Bettini LR, D'Angio' M, Bonfanti P, Imberti L, Sottini A, Paghera S, Quiros-Roldan E, Rossi C, Oler AJ, Tompkins MF, Alba C, Vandernoot I, Goffard JC, Smits G, Migeotte I, Haerynck F, Soler-Palacin P, Martin-Nalda A, Colobran R, Morange PE, Keles S, Çölkesen F, Ozcelik T, Yasar KK, Senoglu S, Karabela SN, Rodríguez-Gallego C, Novelli G, Hraiech S, Tandjaoui-Lambiotte Y, Duval X, Laouénan C

Tolerance in the Age of Immunotherapy.

The New England journal of medicine

Bluestone JA, Anderson M

Autoimmune Endocrinopathies: An Emerging Complication of Immune Checkpoint Inhibitors.

Annual review of medicine

Quandt Z, Young A, Perdigoto AL, Herold KC, Anderson MS

Evaluation of SARS-CoV-2 serology assays reveals a range of test performance.

Nature biotechnology

Whitman JD, Hiatt J, Mowery CT, Shy BR, Yu R, Yamamoto TN, Rathore U, Goldgof GM, Whitty C, Woo JM, Gallman AE, Miller TE, Levine AG, Nguyen DN, Bapat SP, Balcerek J, Bylsma SA, Lyons AM, Li S, Wong AW, Gillis-Buck EM, Steinhart ZB, Lee Y, Apathy R, Lipke MJ, Smith JA, Zheng T, Boothby IC, Isaza E, Chan J, Acenas DD, Lee J, Macrae TA, Kyaw TS, Wu D, Ng DL, Gu W, York VA, Eskandarian HA, Callaway PC, Warrier L, Moreno ME, Levan J, Torres L, Farrington LA, Loudermilk RP, Koshal K, Zorn KC, Garcia-Beltran WF, Yang D, Astudillo MG, Bernstein BE, Gelfand JA, Ryan ET, Charles RC, Iafrate AJ, Lennerz JK, Miller S, Chiu CY, Stramer SL, Wilson MR, Manglik A, Ye CJ, Krogan NJ, Anderson MS, Cyster JG, Ernst JD, Wu AHB, Lynch KL, Bern C, Hsu PD, Marson A

High-resolution epitope mapping of anti-Hu and anti-Yo autoimmunity by programmable phage display.

Brain communications

O'Donovan B, Mandel-Brehm C, Vazquez SE, Liu J, Parent AV, Anderson MS, Kassimatis T, Zekeridou A, Hauser SL, Pittock SJ, Chow E, Wilson MR, DeRisi JL

Test performance evaluation of SARS-CoV-2 serological assays.

medRxiv : the preprint server for health sciences

Whitman JD, Hiatt J, Mowery CT, Shy BR, Yu R, Yamamoto TN, Rathore U, Goldgof GM, Whitty C, Woo JM, Gallman AE, Miller TE, Levine AG, Nguyen DN, Bapat SP, Balcerek J, Bylsma SA, Lyons AM, Li S, Wong AW, Gillis-Buck EM, Steinhart ZB, Lee Y, Apathy R, Lipke MJ, Smith JA, Zheng T, Boothby IC, Isaza E, Chan J, Acenas DD, Lee J, Macrae TA, Kyaw TS, Wu D, Ng DL, Gu W, York VA, Eskandarian HA, Callaway PC, Warrier L, Moreno ME, Levan J, Torres L, Farrington LA, Loudermilk R, Koshal K, Zorn KC, Garcia-Beltran WF, Yang D, Astudillo MG, Bernstein BE, Gelfand JA, Ryan ET, Charles RC, Iafrate AJ, Lennerz JK, Miller S, Chiu CY, Stramer SL, Wilson MR, Manglik A, Ye CJ, Krogan NJ, Anderson MS, Cyster JG, Ernst JD, Wu AHB, Lynch KL, Bern C, Hsu PD, Marson A

Identification of novel, clinically correlated autoantigens in the monogenic autoimmune syndrome APS1 by proteome-wide PhIP-Seq.

eLife

Vazquez SE, Ferré EM, Scheel DW, Sunshine S, Miao B, Mandel-Brehm C, Quandt Z, Chan AY, Cheng M, German M, Lionakis M, DeRisi JL, Anderson MS

GILT in Thymic Epithelial Cells Facilitates Central CD4 T Cell Tolerance to a Tissue-Restricted, Melanoma-Associated Self-Antigen.

Journal of immunology (Baltimore, Md. : 1950)

Rausch MP, Meador LR, Metzger TC, Li H, Qiu S, Anderson MS, Hastings KT

The Molecular Medicine Investigation Unit: Linking Patient Care and Scientific Inquiry in Physician-Scientist Training.

Journal of graduate medical education

Berger A, Matloubian M, Shah NP, Wachter RM, DeRisi JL, Anderson M

New Frontiers in the Treatment of Type 1 Diabetes.

Cell metabolism

Warshauer JT, Bluestone JA, Anderson MS

Introducing the Endotype Concept to Address the Challenge of Disease Heterogeneity in Type 1 Diabetes.

Diabetes care

Battaglia M, Ahmed S, Anderson MS, Atkinson MA, Becker D, Bingley PJ, Bosi E, Brusko TM, DiMeglio LA, Evans-Molina C, Gitelman SE, Greenbaum CJ, Gottlieb PA, Herold KC, Hessner MJ, Knip M, Jacobsen L, Krischer JP, Long SA, Lundgren M, McKinney EF, Morgan NG, Oram RA, Pastinen T, Peters MC, Petrelli A, Qian X, Redondo MJ, Roep BO, Schatz D, Skibinski D, Peakman M

Landscape of stimulation-responsive chromatin across diverse human immune cells.

Nature genetics

Calderon D, Nguyen MLT, Mezger A, Kathiria A, Müller F, Nguyen V, Lescano N, Wu B, Trombetta J, Ribado JV, Knowles DA, Gao Z, Blaeschke F, Parent AV, Burt TD, Anderson MS, Criswell LA, Greenleaf WJ, Marson A, Pritchard JK

Elastase 3B mutation links to familial pancreatitis with diabetes and pancreatic adenocarcinoma.

The Journal of clinical investigation

Moore PC, Cortez JT, Chamberlain CE, Alba D, Berger AC, Quandt Z, Chan A, Cheng MH, Bautista JL, Peng J, German MS, Anderson M, Oakes SA

Comment on 'AIRE-deficient patients harbor unique high-affinity disease-ameliorating autoantibodies'.

eLife

Landegren N, Rosen LB, Freyhult E, Eriksson D, Fall T, Smith G, Ferre EMN, Brodin P, Sharon D, Snyder M, Lionakis M, Anderson M, Kämpe O

The epigenetic regulator ATF7ip inhibits Il2 expression, regulating Th17 responses.

The Journal of experimental medicine

Sin JH, Zuckerman C, Cortez JT, Eckalbar WL, Erle DJ, Anderson MS, Waterfield MR

The autoimmune targets in IPEX are dominated by gut epithelial proteins.

The Journal of allergy and clinical immunology

Eriksson D, Bacchetta R, Gunnarsson HI, Chan A, Barzaghi F, Ehl S, Hallgren Å, van Gool F, Sardh F, Lundqvist C, Laakso SM, Rönnblom A, Ekwall O, Mäkitie O, Bensing S, Husebye ES, Anderson M, Kämpe O, Landegren N

A large CRISPR-induced bystander mutation causes immune dysregulation.

Communications biology

Simeonov DR, Brandt AJ, Chan AY, Cortez JT, Li Z, Woo JM, Lee Y, Carvalho CMB, Indart AC, Roth TL, Zou J, May AP, Lupski JR, Anderson MS, Buaas FW, Rokhsar DS, Marson A

A Mutation in the Transcription Factor Foxp3 Drives T Helper 2 Effector Function in Regulatory T Cells.

Immunity

Van Gool F, Nguyen MLT, Mumbach MR, Satpathy AT, Rosenthal WL, Giacometti S, Le DT, Liu W, Brusko TM, Anderson MS, Rudensky AY, Marson A, Chang HY, Bluestone JA

Maturing Human CD127+ CCR7+ PDL1+ Dendritic Cells Express AIRE in the Absence of Tissue Restricted Antigens.

Frontiers in immunology

Fergusson JR, Morgan MD, Bruchard M, Huitema L, Heesters BA, van Unen V, van Hamburg JP, van der Wel NN, Picavet D, Koning F, Tas SW, Anderson MS, Marioni JC, Holländer GA, Spits H

Thymic regulatory T cells arise via two distinct developmental programs.

Nature immunology

Owen DL, Mahmud SA, Sjaastad LE, Williams JB, Spanier JA, Simeonov DR, Ruscher R, Huang W, Proekt I, Miller CN, Hekim C, Jeschke JC, Aggarwal P, Broeckel U, LaRue RS, Henzler CM, Alegre ML, Anderson MS, August A, Marson A, Zheng Y, Williams CB, Farrar MA

Transcription Factor 7-Like 2 (TCF7L2) Gene Polymorphism and Progression From Single to Multiple Autoantibody Positivity in Individuals at Risk for Type 1 Diabetes.

Diabetes care

Redondo MJ, Steck AK, Sosenko J, Anderson M, Antinozzi P, Michels A, Wentworth JM, Atkinson MA, Pugliese A, Geyer S

Pancreatic islets communicate with lymphoid tissues via exocytosis of insulin peptides.

Nature

Wan X, Zinselmeyer BH, Zakharov PN, Vomund AN, Taniguchi R, Santambrogio L, Anderson MS, Lichti CF, Unanue ER

Thymic tuft cells promote an IL-4-enriched medulla and shape thymocyte development.

Nature

Miller CN, Proekt I, von Moltke J, Wells KL, Rajpurkar AR, Wang H, Rattay K, Khan IS, Metzger TC, Pollack JL, Fries AC, Lwin WW, Wigton EJ, Parent AV, Kyewski B, Erle DJ, Hogquist KA, Steinmetz LM, Locksley RM, Anderson MS

Detection of Succinate by Intestinal Tuft Cells Triggers a Type 2 Innate Immune Circuit.

Immunity

Nadjsombati MS, McGinty JW, Lyons-Cohen MR, Jaffe JB, DiPeso L, Schneider C, Miller CN, Pollack JL, Nagana Gowda GA, Fontana MF, Erle DJ, Anderson MS, Locksley RM, Raftery D, von Moltke J

Author Correction: Discovery of stimulation-responsive immune enhancers with CRISPR activation.

Nature

Simeonov DR, Gowen BG, Boontanrart M, Roth TL, Gagnon JD, Mumbach MR, Satpathy AT, Lee Y, Bray NL, Chan AY, Lituiev DS, Nguyen ML, Gate RE, Subramaniam M, Li Z, Woo JM, Mitros T, Ray GJ, Curie GL, Naddaf N, Chu JS, Ma H, Boyer E, Van Gool F, Huang H, Liu R, Tobin VR, Schumann K, Daly MJ, Farh KK, Ansel KM, Ye CJ, Greenleaf WJ, Anderson MS, Bluestone JA, Chang HY, Corn JE, Marson A

Autoimmune Polyendocrine Syndromes.

The New England journal of medicine

Husebye ES, Anderson MS, Kämpe O

Collateral Damage: Insulin-Dependent Diabetes Induced With Checkpoint Inhibitors.

Diabetes

Stamatouli AM, Quandt Z, Perdigoto AL, Clark PL, Kluger H, Weiss SA, Gettinger S, Sznol M, Young A, Rushakoff R, Lee J, Bluestone JA, Anderson M, Herold KC

Thymic tolerance as a key brake on autoimmunity.

Nature immunology

Cheng M, Anderson MS

Transfer of Cell-Surface Antigens by Scavenger Receptor CD36 Promotes Thymic Regulatory T Cell Receptor Repertoire Development and Allo-tolerance.

Immunity

Perry JSA, Russler-Germain EV, Zhou YW, Purtha W, Cooper ML, Choi J, Schroeder MA, Salazar V, Egawa T, Lee BC, Abumrad NA, Kim BS, Anderson MS, DiPersio JF, Hsieh CS

Revealing the specificity of regulatory T cells in murine autoimmune diabetes.

Proceedings of the National Academy of Sciences of the United States of America

Spence A, Purtha W, Tam J, Dong S, Kim Y, Ju CH, Sterling T, Nakayama M, Robinson WH, Bluestone JA, Anderson MS, Tang Q

Autoimmune Polyendocrine Syndromes.

The New England journal of medicine

Husebye ES, Anderson MS, Kämpe O

Age-Associated Decline in Thymic B Cell Expression of Aire and Aire-Dependent Self-Antigens.

Cell reports

Cepeda S, Cantu C, Orozco S, Xiao Y, Brown Z, Semwal MK, Venables T, Anderson MS, Griffith AV

Erratum to: Understanding and preventing type 1 diabetes through the unique working model of TrialNet.

Diabetologia

Battaglia M, Anderson MS, Buckner JH, Geyer SM, Gottlieb PA, Kay TWH, Lernmark Å, Muller S, Pugliese A, Roep BO, Greenbaum CJ, Peakman M

Dominant-negative loss of function arises from a second, more frequent variant within the SAND domain of autoimmune regulator (AIRE).

Journal of autoimmunity

Abbott JK, Huoh YS, Reynolds PR, Yu L, Rewers M, Reddy M, Anderson MS, Hur S, Gelfand EW

Insights into immune tolerance from AIRE deficiency.

Current opinion in immunology

Proekt I, Miller CN, Lionakis MS, Anderson MS

Combination central tolerance and peripheral checkpoint blockade unleashes antimelanoma immunity.

JCI insight

Bakhru P, Zhu ML, Wang HH, Hong LK, Khan I, Mouchess M, Gulati AS, Starmer J, Hou Y, Sailer D, Lee S, Zhao F, Kirkwood JM, Moschos S, Fong L, Anderson MS, Su MA

Discovery of stimulation-responsive immune enhancers with CRISPR activation.

Nature

Simeonov DR, Gowen BG, Boontanrart M, Roth TL, Gagnon JD, Mumbach MR, Satpathy AT, Lee Y, Bray NL, Chan AY, Lituiev DS, Nguyen ML, Gate RE, Subramaniam M, Li Z, Woo JM, Mitros T, Ray GJ, Curie GL, Naddaf N, Chu JS, Ma H, Boyer E, Van Gool F, Huang H, Liu R, Tobin VR, Schumann K, Daly MJ, Farh KK, Ansel KM, Ye CJ, Greenleaf WJ, Anderson MS, Bluestone JA, Chang HY, Corn JE, Marson A

Understanding and preventing type 1 diabetes through the unique working model of TrialNet.

Diabetologia

Battaglia M, Anderson MS, Buckner JH, Geyer SM, Gottlieb PA, Kay TWH, Lernmark Å, Muller S, Pugliese A, Roep BO, Greenbaum CJ, Peakman M

Exome Sequencing Reveals Mutations in AIRE as a Cause of Isolated Hypoparathyroidism.

The Journal of clinical endocrinology and metabolism

Li D, Streeten EA, Chan A, Lwin W, Tian L, Pellegrino da Silva R, Kim CE, Anderson MS, Hakonarson H, Levine MA

The influence of genetic predisposition and autoimmune hepatitis inducing antigens in disease development.

Journal of autoimmunity

Hardtke-Wolenski M, Dywicki J, Fischer K, Hapke M, Sievers M, Schlue J, Anderson MS, Taubert R, Noyan F, Manns MP, Jaeckel E

Tolerance checkpoint bypass permits emergence of pathogenic T cells to neuromyelitis optica autoantigen aquaporin-4.

Proceedings of the National Academy of Sciences of the United States of America

Sagan SA, Winger RC, Cruz-Herranz A, Nelson PA, Hagberg S, Miller CN, Spencer CM, Ho PP, Bennett JL, Levy M, Levin MH, Verkman AS, Steinman L, Green AJ, Anderson MS, Sobel RA, Zamvil SS

LYN- and AIRE-mediated tolerance checkpoint defects synergize to trigger organ-specific autoimmunity.

The Journal of clinical investigation

Proekt I, Miller CN, Jeanne M, Fasano KJ, Moon JJ, Lowell CA, Gould DB, Anderson MS, DeFranco AL

AIRE expands: new roles in immune tolerance and beyond.

Nature reviews. Immunology

Anderson MS, Su MA

Proteome-wide survey of the autoimmune target repertoire in autoimmune polyendocrine syndrome type 1.

Scientific reports

Landegren N, Sharon D, Freyhult E, Hallgren Å, Eriksson D, Edqvist PH, Bensing S, Wahlberg J, Nelson LM, Gustafsson J, Husebye ES, Anderson MS, Snyder M, Kämpe O

Tolerance is established in polyclonal CD4(+) T cells by distinct mechanisms, according to self-peptide expression patterns.

Nature immunology

Malhotra D, Linehan JL, Dileepan T, Lee YJ, Purtha WE, Lu JV, Nelson RW, Fife BT, Orr HT, Anderson MS, Hogquist KA, Jenkins MK

Identification of a novel cis-regulatory element essential for immune tolerance.

The Journal of experimental medicine

LaFlam TN, Seumois G, Miller CN, Lwin W, Fasano KJ, Waterfield M, Proekt I, Vijayanand P, Anderson MS

Central tolerance to self revealed by the autoimmune regulator.

Annals of the New York Academy of Sciences

Chan AY, Anderson MS

Editorial overview: Autoimmunity.

Current opinion in immunology

Anderson MS, Mackay F

Identification of MiR-205 As a MicroRNA That Is Highly Expressed in Medullary Thymic Epithelial Cells.

PloS one

Khan IS, Park CY, Mavropoulos A, Shariat N, Pollack JL, Barczak AJ, Erle DJ, McManus MT, Anderson MS, Jeker LT

Brd4 bridges the transcriptional regulators, Aire and P-TEFb, to promote elongation of peripheral-tissue antigen transcripts in thymic stromal cells.

Proceedings of the National Academy of Sciences of the United States of America

Yoshida H, Bansal K, Schaefer U, Chapman T, Rioja I, Proekt I, Anderson MS, Prinjha RK, Tarakhovsky A, Benoist C, Mathis D

Transglutaminase 4 as a prostate autoantigen in male subfertility.

Science translational medicine

Landegren N, Sharon D, Shum AK, Khan IS, Fasano KJ, Hallgren Å, Kampf C, Freyhult E, Ardesjö-Lundgren B, Alimohammadi M, Rathsman S, Ludvigsson JF, Lundh D, Motrich R, Rivero V, Fong L, Giwercman A, Gustafsson J, Perheentupa J, Husebye ES, Anderson MS, Snyder M, Kämpe O

COPA mutations impair ER-Golgi transport and cause hereditary autoimmune-mediated lung disease and arthritis.

Nature genetics

Watkin LB, Jessen B, Wiszniewski W, Vece TJ, Jan M, Sha Y, Thamsen M, Santos-Cortez RL, Lee K, Gambin T, Forbes LR, Law CS, Stray-Pedersen A, Cheng MH, Mace EM, Anderson MS, Liu D, Tang LF, Nicholas SK, Nahmod K, Makedonas G, Canter DL, Kwok PY, Hicks J, Jones KD, Penney S, Jhangiani SN, Rosenblum MD, Dell SD, Waterfield MR, Papa FR, Muzny DM, Zaitlen N, Leal SM, Gonzaga-Jauregui C

Autoimmune hepatitis in a murine autoimmune polyendocrine syndrome type 1 model is directed against multiple autoantigens.

Hepatology (Baltimore, Md.)

Hardtke-Wolenski M, Taubert R, Noyan F, Sievers M, Dywicki J, Schlue J, Falk CS, Ardesjö Lundgren B, Scott HS, Pich A, Anderson MS, Manns MP, Jaeckel E

Too much of a good thing: NLRC4 and autoinflammation.

The Journal of experimental medicine

Anderson MS

Enhancement of an anti-tumor immune response by transient blockade of central T cell tolerance.

The Journal of experimental medicine

Khan IS, Mouchess ML, Zhu ML, Conley B, Fasano KJ, Hou Y, Fong L, Su MA, Anderson MS

Spontaneous development of autoimmune uveitis Is CCR2 dependent.

The American journal of pathology

Chen YF, Zhou D, Metzger T, Gallup M, Jeanne M, Gould DB, Anderson MS, McNamara NA

Panostotic expansile bone disease with massive jaw tumor formation and a novel mutation in the signal peptide of RANK.

Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research

Schafer AL, Mumm S, El-Sayed I, McAlister WH, Horvai AE, Tom AM, Hsiao EC, Schaefer FV, Collins MT, Anderson MS, Whyte MP, Shoback DM

Canonical microRNAs in thymic epithelial cells promote central tolerance.

European journal of immunology

Khan IS, Taniguchi RT, Fasano KJ, Anderson MS, Jeker LT

The transcriptional regulator Aire coopts the repressive ATF7ip-MBD1 complex for the induction of immunotolerance.

Nature immunology

Waterfield M, Khan IS, Cortez JT, Fan U, Metzger T, Greer A, Fasano K, Martinez-Llordella M, Pollack JL, Erle DJ, Su M, Anderson MS

Protein microarray analysis reveals BAFF-binding autoantibodies in systemic lupus erythematosus.

The Journal of clinical investigation

Price JV, Haddon DJ, Kemmer D, Delepine G, Mandelbaum G, Jarrell JA, Gupta R, Balboni I, Chakravarty EF, Sokolove J, Shum AK, Anderson MS, Cheng MH, Robinson WH, Browne SK, Holland SM, Baechler EC, Utz PJ

BPIFB1 is a lung-specific autoantigen associated with interstitial lung disease.

Science translational medicine

Shum AK, Alimohammadi M, Tan CL, Cheng MH, Metzger TC, Law CS, Lwin W, Perheentupa J, Bour-Jordan H, Carel JC, Husebye ES, De Luca F, Janson C, Sargur R, Dubois N, Kajosaari M, Wolters PJ, Chapman HA, Kämpe O, Anderson MS

Lineage tracing and cell ablation identify a post-Aire-expressing thymic epithelial cell population.

Cell reports

Metzger TC, Khan IS, Gardner JM, Mouchess ML, Johannes KP, Krawisz AK, Skrzypczynska KM, Anderson MS

Extrathymic Aire-expressing cells are a distinct bone marrow-derived population that induce functional inactivation of CD4? T cells.

Immunity

Gardner JM, Metzger TC, McMahon EJ, Au-Yeung BB, Krawisz AK, Lu W, Price JD, Johannes KP, Satpathy AT, Murphy KM, Tarbell KV, Weiss A, Anderson MS

Insights into type 1 diabetes from the autoimmune polyendocrine syndromes.

Current opinion in endocrinology, diabetes, and obesity

Cheng MH, Anderson MS

Generation of functional thymic epithelium from human embryonic stem cells that supports host T cell development.

Cell stem cell

Parent AV, Russ HA, Khan IS, LaFlam TN, Metzger TC, Anderson MS, Hebrok M

Autoimmune retinopathy in a patient with autoimmune polyendocrine syndrome type I.

Ocular immunology and inflammation

Breunig A, Lee MS, Miller BS, Binstadt BA, Anderson MS, Montezuma S

Detection of an autoreactive T-cell population within the polyclonal repertoire that undergoes distinct autoimmune regulator (Aire)-mediated selection.

Proceedings of the National Academy of Sciences of the United States of America

Taniguchi RT, DeVoss JJ, Moon JJ, Sidney J, Sette A, Jenkins MK, Anderson MS

Defective autoimmune regulator-dependent central tolerance to myelin protein zero is linked to autoimmune peripheral neuropathy.

Journal of immunology (Baltimore, Md. : 1950)

Su MA, Davini D, Cheng P, Giang K, Fan U, DeVoss JJ, Johannes KP, Taylor L, Shum AK, Valenzise M, Meloni A, Bour-Jordan H, Anderson MS

Monogenic autoimmunity.

Annual review of immunology

Cheng MH, Anderson MS

Control of central and peripheral tolerance by Aire.

Immunological reviews

Metzger TC, Anderson MS

Myocarditis: a defect in central immune tolerance?

The Journal of clinical investigation

Metzger TC, Anderson MS

Aire and T cell development.

Current opinion in immunology

Anderson MS, Su MA

The role of Aire in clonal selection.

Immunology and cell biology

Taniguchi RT, Anderson MS

Clues to immune tolerance: the monogenic autoimmune syndromes.

Annals of the New York Academy of Sciences

Waterfield M, Anderson MS

An autoimmune response to odorant binding protein 1a is associated with dry eye in the Aire-deficient mouse.

Journal of immunology (Baltimore, Md. : 1950)

DeVoss JJ, LeClair NP, Hou Y, Grewal NK, Johannes KP, Lu W, Yang T, Meagher C, Fong L, Strauss EC, Anderson MS

Acquired autoimmune polyglandular syndrome, thymoma, and an AIRE defect.

The New England journal of medicine

Cheng MH, Fan U, Grewal N, Barnes M, Mehta A, Taylor S, Husebye ES, Murphy EJ, Anderson MS

Identification of an autoantigen demonstrates a link between interstitial lung disease and a defect in central tolerance.

Science translational medicine

Shum AK, DeVoss J, Tan CL, Hou Y, Johannes K, O'Gorman CS, Jones KD, Sochett EB, Fong L, Anderson MS

AIRE in the thymus and beyond.

Current opinion in immunology

Gardner JM, Fletcher AL, Anderson MS, Turley SJ

The sickness unto Deaf.

Nature immunology

Gardner JM, Anderson MS

An aberrant prostate antigen-specific immune response causes prostatitis in mice and is associated with chronic prostatitis in humans.

The Journal of clinical investigation

Hou Y, DeVoss J, Dao V, Kwek S, Simko JP, McNeel DG, Anderson MS, Fong L

A novel myelin P0-specific T cell receptor transgenic mouse develops a fulminant autoimmune peripheral neuropathy.

The Journal of experimental medicine

Louvet C, Kabre BG, Davini DW, Martinier N, Su MA, DeVoss JJ, Rosenthal WL, Anderson MS, Bour-Jordan H, Bluestone JA

The role of X-linked FOXP3 in the autoimmune susceptibility of Turner Syndrome patients.

Clinical immunology (Orlando, Fla.)

Su MA, Stenerson M, Liu W, Putnam A, Conte F, Bluestone JA, Anderson MS

Update in endocrine autoimmunity.

The Journal of clinical endocrinology and metabolism

Anderson MS

Effector mechanisms of the autoimmune syndrome in the murine model of autoimmune polyglandular syndrome type 1.

Journal of immunology (Baltimore, Md. : 1950)

Devoss JJ, Shum AK, Johannes KP, Lu W, Krawisz AK, Wang P, Yang T, Leclair NP, Austin C, Strauss EC, Anderson MS

Selective miRNA disruption in T reg cells leads to uncontrolled autoimmunity.

The Journal of experimental medicine

Zhou X, Jeker LT, Fife BT, Zhu S, Anderson MS, McManus MT, Bluestone JA

Deletional tolerance mediated by extrathymic Aire-expressing cells.

Science (New York, N.Y.)

Gardner JM, Devoss JJ, Friedman RS, Wong DJ, Tan YX, Zhou X, Johannes KP, Su MA, Chang HY, Krummel MF, Anderson MS

Mechanisms of an autoimmunity syndrome in mice caused by a dominant mutation in Aire.

The Journal of clinical investigation

Su MA, Giang K, Zumer K, Jiang H, Oven I, Rinn JL, Devoss JJ, Johannes KP, Lu W, Gardner J, Chang A, Bubulya P, Chang HY, Peterlin BM, Anderson MS

Expression of Aire and the early wave of apoptosis in spermatogenesis.

Journal of immunology (Baltimore, Md. : 1950)

Schaller CE, Wang CL, Beck-Engeser G, Goss L, Scott HS, Anderson MS, Wabl M

Small proline-rich protein 1B (SPRR1B) is a biomarker for squamous metaplasia in dry eye disease.

Investigative ophthalmology & visual science

Li S, Nikulina K, DeVoss J, Wu AJ, Strauss EC, Anderson MS, McNamara NA

A robust immunoassay for anti-interferon autoantibodies that is highly specific for patients with autoimmune polyglandular syndrome type 1.

Clinical immunology (Orlando, Fla.)

Zhang L, Barker JM, Babu S, Su M, Stenerson M, Cheng M, Shum A, Zamir E, Badolato R, Law A, Eisenbarth GS, Anderson MS

What's new in the Aire?

Trends in immunology

Cheng MH, Shum AK, Anderson MS

Lessons on immune tolerance from the monogenic disease APS1.

Current opinion in genetics & development

DeVoss JJ, Anderson MS

Spontaneous autoimmunity prevented by thymic expression of a single self-antigen.

The Journal of experimental medicine

DeVoss J, Hou Y, Johannes K, Lu W, Liou GI, Rinn J, Chang H, Caspi RR, Caspi R, Fong L, Anderson MS

Modifier loci condition autoimmunity provoked by Aire deficiency.

The Journal of experimental medicine

Jiang W, Anderson MS, Bronson R, Mathis D, Benoist C

The cellular mechanism of Aire control of T cell tolerance.

Immunity

Anderson MS, Venanzi ES, Chen Z, Berzins SP, Benoist C, Mathis D

The NOD mouse: a model of immune dysregulation.

Annual review of immunology

Anderson MS, Bluestone JA

Aire: an update.

Current opinion in immunology

Su MA, Anderson MS

Autoimmune endocrine disease.

Current opinion in immunology

Anderson MS

Projection of an immunological self shadow within the thymus by the aire protein.

Science (New York, N.Y.)

Anderson MS, Venanzi ES, Klein L, Chen Z, Berzins SP, Turley SJ, von Boehmer H, Bronson R, Dierich A, Benoist C, Mathis D

Enhanced antigen presentation in the absence of the invariant chain endosomal localization signal.

The Journal of experimental medicine

Anderson MS, Swier K, Arneson L, Miller J

Invariant chain can function as a chaperone protein for class II major histocompatibility complex molecules.

Proceedings of the National Academy of Sciences of the United States of America

Anderson MS, Miller J