The Henry Kunkel Society Annual Meeting: Infectious Disease Susceptibility and the Expanding Universe of Primary Immunodeficiency

The New York, NY April 17–20, 2013 Henry George Kunkel 1916–1983

enry Kunkel received his B.S. degree from Princeton and his M.D. degree from Johns Hopkins University. He arrived at The Rockefeller Institute (now University) in 1945 where he spent his entire scientific career Huntil his death in 1983. His contributions to the field of basic and clinical are legendary. He made numerous seminal observations in liver disease, rheumatic diseases and other allied disorders.

He was perhaps best known for his pioneering and extensive studies on the immunoglobulins. His recognition that myeloma proteins were a model for the study of the structure of normal immunoglobulins had a global impact on investigations of the structure, function and inheritance of these molecules. The elucidation of the chain structure of gamma globulin and the recognition that immunoglobulins possessed individual antigenic specificity (idiotypes) were internationally recognized discoveries.

Dr. Kunkel was the recipient of many awards and honors, including membership in the National Academy of Sciences, honorary degrees from Universities of Uppsala and Harvard, and recipient of the Lasker and Gairdner Awards and the Kovalenko Medal of the National Academy of Sciences.

Henry Kunkel Society Officers Henry Kunkel Society Lecturers President ...... Westley Reeves 1992...... Louis Kunkel 2003...... Fred Rosen Vice President...... Keith Elkon 1993...... David Ho 2004...... Diane Mathis Secretary ...... Michel Nussenzweig 1994...... Benvenuto Pernis 2005...... Charles Weissman Treasurer...... Anne Marshak- 1996...... Jeffrey Ravetch 2006...... Ralph M. Steinman Rothstein 1997...... Anthony Fauci 2007...... Antonio Lanzavecchia 1998...... Klaus Rajewsky 2008...... John Atkinson 1999...... Peter Doherty 2009...... Thomas Tuschl 2000...... Max D. Cooper 2010...... Frederick Alt 2001...... Fritz Melchers 2011...... Mark M. Davis 2002...... Tasuku Honjo 2012...... Louis M. Staudt

Henry Kunkel Society Members

Sergio Abrignani Ira Berkower Michael Centola Rajendra Damle Luciano Adorini Robert D. Bigler, II Anthony Cerami Franco Dammacco Vincent Agnello Richard S. Blumberg Andrea Cerutti Robert B. Darnell Irma Airold Linda K. Bockenstedt Ethel Cesarman Anne Davidson Arne N. Akbar Bjarne Bogen Edward K. L. Chan Randall S. Davis Donato Alarcon-Segovia# Stefano Bombardieri Andrew Chan Noorbibi K. Day Matthew Albert Constantin A. Bona George K. Chandy Jean-Michel Dayer Mara Luisa (Marisa) Alegre Jerry Boss† Lucienne Chatenoud Silvia Deaglio Konstantina Alexandropoulos† Marina Botto Talal Chatila Paolo Dellabona Paul Allen† Vassiliki A. Boussiotis† Triantafyllos Chavakis Stephen V. Desiderio Chester A. Alper Jean-Pierre Bouvet Youhai Chen Kavita Dhodapkar Sebastian Amigorena Joseph Boyle Selina Chen-Kiang Madhav V. Dhodapkar Ulf Anderson Thomas J. Braciale Nicholas Chiorazzi Betty A. Diamond Paul J. Anderson Ferdinand C. Breedveld Francis V. Chisari Howard Dickler Francesco Annuziato Michael Brenner Carlo Chizzolini Guillermo Dighiero William P. Arend Stanley Louis Bridges Charles Christian Teresa P. DiLorenzo Joseph R. Arron Thomas Brocker Charles Chu Walter H. Doerfler John P. Atkinson Eric Brown Marcus Ramsay Clark Peter C. Doherty K. Frank Austen Teodor-Boru Brumeanu Edward A. Clark Thomas Dörner Stratis Avrameas Gerd-Rudiger Burmester Charles Cochrane Daniel Douek Raffaele Badolato Joel Buxbaum Richard Coico Steven Douglas David Bahler Jill Buyon Mary Ellen Conley Terry William Du Clos Vincenzo Barnaba John C. Byrd Gabriela Constantin Anne Durandy Craig Bassing Michael Cahalan H. Terence Cook George Ebers Antony Basten Federico Caligaris-Cappio David Cooper Dimitar G. Efremov Ekkehard K. F. Bautz Michael P. Cancro Max D. Cooper Michael Ehrenstein Alexander Bearn# Daniela Capello Andrew P. Cope Götz Ehrhardt Timothy W. Behrens J. Donald Capra Joseph Craft Klaus Eichmann Baruj Benacerraf# Ronald I. Carr Carlo M. Croce Robert A. Eisenberg J. Claude Bennett Michael C. Carroll Alan Cross Hani El-Gabalawy Christophe O. Benoist Robert H. Carter Mary K. Crow Keith Elkon Zvi Bentwich Paolo Casali Charlotte Cunningham- Anna Erdei† Claudia Berek Jean-Laurent Casanova Rundles Doruk Erkan Kâre Berg Rafael Casellas Riccardo Dalla-Favera Luis R. Espinoza Paul Evans Richard J. Hodes Lloyd Mayer Marko Z. Radic Norman Talal Zsuzsa Fabry V. Michael Holers Maclyn McCarty# Kanti R. Rai Eng M. Tan Andras Falus Steven M. Holland James McCluskey Klaus Rajewsky Stuart Tangye Donna L. Farber Halsted R. Holman Joseph (Mike) McCune Joyce Rauch Alexander Tarakhovsky A. Darise Farris David Horn A. McGehee Harvey Jeffrey Ravetch Kristin Tarbell C. Garrison Fathman Alan N. Houghton Victor McKusick Stanley Read Naomi Taylor Douglas Thomas Fearon Thomas W. J. Huizinga Ruslan Medzhitov Ann Reed Francesco Tedesco Ten Feizi Mary Beth Humphrey Eric Meffre Westley H. Reeves Cox Terhorst Marc Feldmann John Hurley# Fritz Melchers Morris Reichlin Argyrios N. Theofilopoulos Gianfranco Ferraccioli David A. Isenberg Elizabeth D. Mellins Bernardo Reina- Robert Thoburn Manlio Ferrarini Kimishige Ishizaka Henri Menard San Martin Adrian Thrasher Erol Fikrig Lionel B. Ivashkiv Miriam Merad Maria Rescigno Angela Tincani Terri Finkel Bana Jabri Pier Luigi Meroni Michael Reth Thomas Tomasi Alison Finnegan Hans-Martin Jäck Joan T. Merrill Lisa G. Rider Kevin J. Tracey Gary S. Firestein Chaim Oscar Jacob Jiri Mestecky Frederic Rieux-Laucat Elisabetta Traggiai Vincent Fischetti Israeli Jaffe Christine Metz William C. Robbins Edward L. Treadwell Zvi Fishelson Ashish Jain† Dror Mevorach William Robinson Giorgio Trinchieri David E. Fisher Judith A. James Mary Ann Michelis Toby Rodman Jurg Tschopp# Richard A. Flavell Roland Jonsson Peter A. Miescher Martin Rodriguez George Tsokos Thomas A Fleisher Dieter Kabelitz Fred Miller Santiago Rodriguez Naoyuki Tsuchiya Ira J. Fox Joachim R. Kalden Eric C. B. Milner de Cordoba Shannon Turley Marvin Fritzler Insoo Kang Toshihide Mimura Axel Roers Antonio Uccelli Yang-Xin Fu Fu Gilla Kaplan Seiji Minota Lars Rönnblom Jonathan W. Uhr Shu Man Fu Mikael Karlsson Pierre Miossec† Antony Rosen Raivo Uibo Herman Fudenberg Jonathan D. Katz Chandra Mohan Fred Rosen# Emil R. Unanue Sarah L. Gaffen Michel D. Kazatchkine Tom Eirik Mollnes Agueda A. Rostagno Derya Unutmaz Patrick Gaffney Jack D. Keene Patricia K. A. Mongini Thomas Rothstein Jacques Urbain Gianluca Gaidano Robert Kimberly Laurence Morel Robert A. S. Roubey Paul J. Utz Thomas F. Gajewski Paul W. Kincade Lorenzo Moretta Robert L. Rubin Anders G. Vahlne Uri Galili Thomas Kindt Jane Morse# Alexander Y. Rudensky Andrea Vambutas Ignacio Garcia- Te Piao King Bernard Moser Carlo Russo Wesley C. Van Voorhis De La Torre Michael Kirschfink William A. Muller Federica Sallusto Charles S. Via Hubert Baburaj (Bobby) Lars Klareskog Hans Muller-Eberhard# Jane E. Salmon Anna Villa Gasper† Kim L. Kline Kenneth Murphy Hugh A. Sampson Herbert W. Virgin Raif S. Geha Glen Knight Philip M. Murphy Inger Sandlie Ulrich H. Freiherr James L. German, III Daniel M. Knowles Natarajan Muthusamy Matyas Sandor von Andrian-Werburg M. Eric Gershwin Hon-Sum Ko Bertrand Nadel Laura Santambrogio Harald von Boehmer Paolo Ghia Alisa E. Koch Carl F. Nathan Ignacio Sanz Takaji Wakita Allan Gibofsky David Koffler# Jacob B. Natvig Minoru Satoh Thomas A. Waldmann Irma Gigli Frits Koning Gerald Thomas Nepom David Schatz† Herman Waldmann Gray Steven Gilkeson Dwight H. Kono Janko Nikolich-Zugich Georg Schett Mark Jeremy Walport Martin John Glennie Philippe H. A. Kourilsky Kenneth Nilsson Claudine Schiff Chang-Yi Wang Laurie Glimcher Michael Krangel Falk Nimmerjahn Reinhold Schmidt† Jingsong Wang Otto Goetze Richard Krause Douglas F. Nixon Robert Schreiber† H. Shaw Warren Leslie Gold Karsten Kretschmer† Gustav J. V. Nossal Harry W. Schroeder, Jr. Richard L. Wasserman Raphaela Goldbach- James G. Krueger Luigi D. Notarangelo Peter H. Schur Martin Weigert Mansky Vijay Kuchroo Jan Novak R. Hal Scofield Jean-Claude Weill† Robert A. Good# Dinakantha Kumararatne Victor Nussenzweig Gavin Screaton Marc Weksler Tom Gordon Steven Kunkel Michel C. Nussenzweig Benjamin M. Segal Hans Ulrich Weltzien Siamon Gordon Louis Kunkel Hans D. Ochs Andrey Shaw† Peter P. Wernet Jorg J. Goronzy Antonio La Cava Lloyd Old Barbaray Sherry Per Westermark Emil C. Gotschlich Peter J. Lachmann Michael B. A. Oldstone Yufang Shi Cornelia M. Weyand Susan R. S. Gottesman Robert G. Lahita Eugene Oltz Mark Jay Shlomchik Juergen Wienands Alice B. Gottlieb Antonio Lanzavecchia Jordan Scott Orange† Frederick P. Siegal David Wiest† Ellen M. Gravallese Terri Laufer Anders Orn Leslie E. Silberstein Ralph C. Williams, Jr. Arthur Grayzel Jeffery A. Ledbetter Barbara Anne Osborne Gregg Silverman Patrick C. Wilson Mark Grebenau David M. Lee C. Kirk Osterland Roy L. Silverstein Robert J. Winchester Mark I. Greene Paul J. Lehner Mario A. Ostrowski Franco Silvestris John Winfield Howard M. Grey Beth Levine Shoichi Ozaki Alfred Singer Jedd Wolchok Bodo Grimbacher Peter Lipsky Stephen A. Paget Ram Singh Kevin Woollard† Luca Guidotti Sergio A. Lira Savita Pahwa Francesco Sinigaglia Kai W. Wucherpfennig Sudhir Gupta Gary W. Litman Eric G. Pamer John Patrick Sissons Ramnik Xavier David A. Hafler Stephen Litwin Sunpho Park Marjorie Slankard Kazuhiko Yamamoto Kathleen A. Haines Yang Liu Virginia Pascual Barry Sleckman William Yount William W. Hall Miguel Lopez-Botet Dhavalkumar D. Patel Kendall Smith John Zabriskie Lars Hanson Pier Luigi Luigi Meroni Andras Perl Kenneth G. C. Smith Debra Jeske Zack Morten Harboe Xiaojing Ma Peter Perlmann Josef Smolen Habib Zaghouani John A. Hardin Crystal L. Mackall Benvenuto Pernis Scott Snapper Jianying Zhang† David M. Harlan Ravinder N. Maini Erik Peterson† Eric Sobel Maurizio Zanetti John B. Harley Fabio Malavasi Rodney Ernest Phillips Ludvig M. Sollid Pan Zheng Jeffrey Hasday Mark J. Mamula Richard Phipps Alan Solomon Song Guo Zheng† Dorian Haskard Mart Mannik Matthew Pickering Silvano Sozzani Rolf Zinkernagel Barton Haynes Alberto Mantovani David S. Pisetsky Kostas Stamatopoulos Yong-Rui Zou Peter Henson Markus G. Manz Vito Pistoia Louis Staudt Moncef Zouali Kevan C. Herold John J. Marchalonis K. Michael Pollard Bettie M. Steinberg Juan Carlos Zuniga- Rafael Herrera-Esparza Francesco M. Marincola Richard M. Pope Ralph M. Steinman# Pflucker† Martin Herrmann Joseph A. Markenson David N. Posnett Freda K. Stevenson Ingrid Birgitta Heyman Ann Marshak-Rothstein Robert Prendergast William Stohl Falk Hiepe Ana Martinez Luminita Pricop Kathleen Sullivan Adrian Hill Giuseppe Matarese Chaim Putterman Yoshinari Takasaki † New member Jules Hirsch Diane J. Mathis Andreas Radbruch Toshitada Takemori # Deceased Program

Wednesday, April 17, 2013

3 p.m. Executive Committee Meeting Cohn Library

4 p.m. Council Meeting Cohn Library

6 p.m. Annual Henry Kunkel Society Lecture Caspary Auditorium Daniel L. Kastner NIH Distinguished Investigator National Human Genome Research Institute, Bethesda, MD In Search of Our Inner Zebras: Adventures in the Genomics of Inflammation

7 p.m. Cocktail Reception† Abby Aldrich Lounge

8 p.m. Henry Kunkel Society Annual Members Dinner† Abby Aldrich Dining Room

†Cocktail reception and Dinner tickets must be purchased online with registration. thursday, April 18, 2013

8 a.m. Welcoming Remarks Carson Family Auditorium Westley H. Reeves President, The Henry Kunkel Society , Gainesville, FL

8:15–11:55 a.m. Session I Innate Primary Immunodeficiency and Interferons Co-chairs: Peggy Crow and Jean-Laurent Casanova

8:15 a.m. Sophie Hambleton (Invited Guest) Newcastle University, Newcastle upon Tyne, UK Human STAT2 Deficiency

8:45 a.m. Yanick Crow (Invited Guest) University of Manchester, Manchester, UK Interferonopathies and Monogenic SLE

9:15 a.m. Shen-Ying Zhang (Invited Guest) The Rockefeller University, New York, NY Herpes Simplex Encephalitis: Who Is the Culprit?

9:45 a.m. Jean-Laurent Casanova (Member) The Rockefeller University, New York, NY A New Inborn Error in Interferon Immunity

10:15 a.m. Coffee break

10:35 a.m. Michael C. Carroll (Member) , , MA Human Diseases Due to Deficiencies in Complement 11:05 a.m. John Atkinson (Member) Washington University School of Medicine, St. Louis, MO Too Much Alternative Pathway Activity Early and Late in Life: Atypical Hemolytic Uremic Syndrome and Age-related Macular Degeneration

11:35 a.m. Ariane Soldatos National Institutes of Health, Bethesda, MD Cryptogenic Progressive Neurodegeneration in Primary Immunodeficiencies: A Case of Cognitive Decline in a Patient with XLA and a Case of Bibrachial Amyotrophy in a Patient with STAT1 Mutation

11:55 a.m. Lunch

11:55 a.m. Annual Henry Kunkel Society Members Meeting Lower Level Greenberg Building (CRC)

2–5 p.m. Session II Carson Family Auditorium T-cell Primary Immunodeficiency Chair: Cox Terhorst

2 p.m. Luigi Notarangelo (Member) Harvard Medical School, Boston, MA Modeling Human Primary Immunodeficiencies with Induced Pluripotent Stem Cells

2:30 p.m. Jennifer Puck (Invited Guest) University of California, San Francisco, CA Neonatal Screening for Primary Immunodeficiencies

3 p.m. Joshua D. Milner (Invited Guest) National Institute of Allergy and Infectious Diseases, Bethesda, MD Inborn Errors Underlying Allergy

3:30 p.m. Coffee break

3:50 p.m. Stuart Tangye (Member) Garvan Institute of Medical Research, Sydney, STAT3 Is a Critical Regulator of Immunological Memory

4:20 p.m. Juan Carlos Zúñiga-Pflücker (New Member) University of Toronto, Toronto, Canada Human Progenitors, from In Vitro Models to In Vivo Applications

4:40 p.m. David Schatz (New Member) Yale University School of Medicine, New Haven, CT Targeting of Somatic Hypermutation to Immunoglobulin Genes friday, April 19, 2013

8–10 a.m. Session III Carson Family Auditorium B Cells And Primary Immunodeficiency Co-chairs: Ann Marshak-Rothstein and Joseph Craft

8 a.m. Lennart Hammarstrom (Invited Guest) Karolinska Institutet, Stockholm, Sweden LRBA Deficiency

8:30 a.m. Mary Ellen Conley (Member) University of Tennessee, Memphis, TN Defects in Development: Breaking the Mold

9 a.m. Mike Lenardo (Invited Guest) National Institute of Health, Bethesda, MD Role for Mg2+ in Lymphocyte Signaling Revealed by XMEN Disease — A New Primary Immunodeficiency

9:30 a.m. Frédéric Rieux-Laucat (Member) Université Descartes, Paris, Inborn Errors Underlying Auto-immunity

10 a.m. Coffee break

10:30 a.m.–12 p.m. Session IV Carson Family Auditorium B Cells and Primary Immunodeficiency (Part II) Co-chairs: Ann Marshak-Rothstein and Joseph Craft

10:30 a.m. Carin Dahlberg Karolinska Institutet, Stockholm, Sweden WASp and N-WASp Regulate the Germinal Center Response and Production of Auto-antibodies

10:50 a.m. Natarajan (Raj) Muthusamy (Member) Ohio State University, Columbus, OH CD37 Tetraspanin as a Therapeutic Target for B Cell Malignancies

11:10 a.m. Ashish Jain (New Member) National Institute of Allergy and Infectious Diseases, Bethesda, MD A Dominantly Inherited Mutation in TWEAK Is Associated with Antibody Deficiency

11:30 a.m. Falk Nimmerjahn (Member) University of Erlangen-Nuremberg, Erlangen, Targeting B Cells in Scurfy Mice Ameliorates Systemic Autoimmune Disease

12 p.m. Lunch

2:20–4:50 p.m. Session V Carson Family Auditorium New Member Session Co-chairs: Donald Capra and Vito Pistoia

2:20 p.m. David Wiest (New Member) Fox Chase Cancer Center, Philadelphia, PA A Novel, Regulatory Role in Hematopoiesis for Ribosomal Protein Rpl22 and Its Paralog Like1

2:40 p.m. Anna Erdei (New Member) University L.Eotvos, Budapest, Hungary Complement-bridging Innate and Adaptive Immunity 3 p.m. Erik Peterson (New Member) University of Minnesota, Minneapolis, MN Autoimmunity-associated PTPN22 Regulates Type 1 Interferon Production

3:20 p.m. Coffee break

3:50 p.m. Vito Pistoia (Member) Instituto Giannina Gaslini, Genoa, Italy Expression and Function of IL-17A and IL-25 Receptors in B Cell Malignancies of Germinal Center Origin

4:20 p.m. Charlotte Cunningham-Rundles (Member) Mount Sinai School of Medicine, New York, NY Update and New Themes in Common Variable Immune Deficiency saturday, April 20, 2013

8–10 a.m. Session VI Carson Family Auditorium Basic T-cell and APC Immunology Co-chairs: Robert Lahita and Nicholas Chiorazzi

8 a.m. Pierre Miossec (New Member) Claude Bernard University Lyon, Lyon, France Th1/Th17 Interactions and TB Reactivation with TNF Inhibition

8:20 a.m. Thomas Waldmann (Member) National Cancer Institute, Bethesda, MD Janus Kinases: Targets for Immunotherapy

8:40 a.m. Lisa Westerber Karolinska Institutet, Stockholm, Sweden Skin Pathology in Wiskott-Aldrich Syndrome Mice Is Associated with Hyperactive CD8+ T Cells and Increased Cross-presentation by Dendritic Cells

9 a.m. Konstantina Alexandropoulos (New Member) Mount Sinai Hospital, New York, NY Medullary Thymic Epithelial Cell Depletion by Conditional Deletion of TRAF6 Leads to T Cell Mediated Inflammation and Development of Autoimmune Hepatitis

9:20 a.m. Jerry Boss (New Member) Emory University School of Medicine, Atlanta, GA Genetic and Epigenetic Regulation of T Cell Activation

9:40 a.m. H. Hugh Fudenberg (Member) NeuroImmuno Therapeutics Research Foundation, Spartanburg, SC Immunotherapy of Autism

10 a.m. Coffee break

10:30–11:10 a.m. Clinicopathological Conference (CPC)

10:30 a.m. Robert Lahita (Member) Newark Beth Israel Medical Center, Newark, NJ Case Presentation

10:40 a.m. Steven Holland (Member) National Institute of Allergy and Infectious Diseases, Bethesda, MD Adult-onset Immunodeficiency