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7:00 – 8:00am Breakfast
8:00 – 8:15am Welcome to Pre–Conference
8:15 – 8:45am Genetic Interpretation 101 - Ivan Chinn, MD, Baylor College of Medicine
8:45 – 9:15am Functional Testing: Yes/No/When/What For - James Verbsky, MD, PhD, Medical College of Wisconsin
9:15 – 9:45am CVID/XLA - PJ Maglione, MD, PhD, Boston University School of Medicine
9:45 – 10:15am BREAK
10:15 – 10:45am Ataxia-Telangiectasia - Howard Lederman, MD, PhD, Johns Hopkins School of Medicine
10:45 – 11:15am CGD male or female - Christa Zerbe, MD, NIAID
11:15 – 11:45am RAG CID and Thymus Defects - Ottavia Delmonte, MD, PHD, NIH
11:45am – 12:45pm Corporate Lunch Symposium: Safety and Efficacy of PEGylated Recombinant Adenosine Deaminase in ADA-SCID: Results from the first-in-human phase 3 study
Sponsored by: 
12:45 – 1:15pm Adenosine deaminase deficiency - Eyal Grunebaum, MD, M.Sc. Paeds, SickKids
1:15 – 1:45pm HLH - Rebecca Marsh, MD, Cincinnati Children's Hospital Medical Center
1:45 – 2:00pm ORAL ABSTRACT: Impaired thymic AIRE expression underlies autoantibodies against type I IFNs in humans with inborn errors of the alternative NF-κB pathway - Tom Le Voyer, MD, Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM
1:00 – 2:00pm Investigators of CIS Panel Event
Sergio Rosenzweig, MD, PhD
CIS President and 2023 Program Co-Chair
Moderators: Erica Schmitt, MD, PhD & Lisa Forbes Satter, MD
2:30 – 2:50pm Human Germline Heterozygous Gain-of-Function STAT6 Variants Cause Severe Allergic Disease - Mehul Sharma, PhD, University of British Columbia
2:50 – 3:10pm Use of single cell DNA sequencing to characterize somatic mosaicism in a patient with two signal transduction and activator of transcription 1 (STAT1) gain-of-function variants - Craig Platt, MD, PhD, Boston Children's Hospital
3:10 – 3:30pm Defining the impact of FOXN1 variants with functional assays and reaggregate thymus organ cultures reveals those with loss- and gain- of function and dominant negative consequences - Nicolai van Oers, PhD, UT Southwestern Medical Center
3:30 – 3:50pm Racial and Ethnic Disparities in Outcomes following Hematopoietic Stem Cell Transplant (HCT) in Patients with Severe Combined Immunodeficiency (SCID) - Lena Winestone, MD, UCSF Benioff Children's Hospitals
3:50 – 4:10pm Interstitial lung disease and mycobacteriosis in children with inherited CCR2 deficiency - Anna-Lena Neehus, MSc, Institut Imagine
Moderators: Adrian Lesmana & Sarah Henrickson, MD, PhD
4:30 – 5:00 pm Advances in Discovery of Somatic Mosaicism Driving Immune Dysregulation - Megan Cooper, MD, PhD, Washington University St. Louis
5:00 – 5:30pm STATs - Lisa Forbes Satter, MD, Baylor College of Medicine/Texas Children's Hospital
5:30 – 6:00pm IL-27 in immunity to EBV infection revealed by IL27RA deficiency - Sylvain Latour, PhD, Insitut Imagine
6:00 – 6:15pm ORAL ABSTRACT: Inherited deficiency of the OAS-RNase L pathway in children with MIS-C - Danyel Lee, MD, University Paris Cité, Imagine Institute, Rockefeller University
Moderator: Hanadys Ale, MD; Sergio Rosenzweig, MD, PhD & Lisa Forbes Satter, MD
30 Years of Dissecting and Treating PID/IEI
Luigi Notarangelo, MD, National Institutes of Health
*Separate ticket purchase required*
Friday, May 19 |
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*Separate Registration Required*
Sponsored By: 
Moderators: Melissa Gans, MD & Cullen Dutmer, MD
Human T cell development, localization, and function throughout life, disease, transplantation and vaccination
Donna Farber, PhD, Columbia University
Moderators: Carrie Lucas, PhD & Dussan Bogunovic, PhD
9:00 – 9:25am Polynesian/Inuit COVID - Sophie Hambleton, PhD, Newcastle University
9:25 – 9:50am Using the Genome Aggregation Database (gnomAD) to interpret genes and variants in rare disease - Nicole Lake, PhD, Yale School of Medicine
9:50 – 10:15am Complement - John Atkinson, MD, Washington Univesity in St. Louis
Moderators: Juanita Valdes Camacho, MD & Megan Cooper, MD, PhD
11:00 – 11:25am Gene Therapy - Caroline Kuo, MD, PhD, UCLA
11:25 – 11:50am ITP AntiFcRN - Jim Bussel, MD, Weill Cornell Medical Center
11:50 – 12:15pm Neutrophil Engineering - mRNA Corrected Autologous CGD Neutrophils - Harry Malech, MD, NIH
12:15 – 12:30pm ORAL ABSTRACT: Severe Leukocyte Adhesion Deficiency-I (LAD-I) Lentiviral-Mediated Ex-Vivo Gene Therapy: Ongoing Phase 1/2 Study Results - Caroline Kuo, MD, PhD, UCLA
Sponsored by: 
Moderators: JP Lopes & Kate Sullivan, MD, PhD
2:30 – 2:55pm Augmented intelligence and risk prediction in PID/IEI - Nicholas Rider, DO, Liberty University
2:55 – 3:10pm USIDNET and AI for PID Diagnosis - Kathleen Sullivan, MD, PhD, CHOP
3:10 – 3:35pm Clingen, from Gene to Variant curation in PID/IEI - Mark Hannibal, MD, PhD, University of Michigan
3:35 – 3:50pm ORAL ABSTRACT: Resolving Incomplete Penetrance in Primary Immunodeficiencies - O'Jay Stewart, Icahn School of Medicine at Mount Sinai
3:50 – 4:05pm ORAL ABSTRACT: Clinical relevance of somatic mosaic variants detected from exome sequencing data - Rajarshi Ghosh, NIH/NIAID
Moderators: Naty Chaimowitz, MD, PhD & Mike Keller, MD
4:40 – 5:00pm Update on Thymus Transplant: US - John Sleasman, MD, Duke University
5:00 – 5:20pm Update on Thymus Transplant: UK - Graham Davies, MD, Great Ormond Street Hospital
5:20 – 5:40pm Roundtable Discussion with Q&A
Moderator: Carolyn Baloh, MD
How HSCT changed the history of SCID outcome
Becky Buckley, MD
Organized by the Diversity & Inclusion and Women in Clinical Immunology Sciences Committees
"Placing an Equity Lens on the Struggle for Diversity and Inclusion: A Personal Perspective"
Will Ross
Associate Dean for Diversity
Principal Officer for Community Partnerships
Alumni Endowed Professor of Medicine, Division of Nephrology
Sponsored by: 
Saturday, May 20
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Sponsored by: 
*Separate Registration Required*
Moderator: Emily Mace, PhD & Karin Chen, MD
8:00 – 8:25am Characterizing Norovirus Pathogenesis using Human Intestinal Enteroid Cultures: Recent Advances and Challenges - Lila Nolan, MD, Washington University St. Louis
8:25 – 8:50am Model tissue-resident immunity in human lung organoids - Huimin Zhang, Stanford University
8:50 – 9:15am Brain Organoids and Prion Diseases - Catherine Haigh, PhD, NIH
9:15 – 9:30am ORAL ABSTRACT: Fecal Microbiota Transplant From Common Variable Immunodeficiency Patients To Germ-Free Mice Recapitulates Gut Dysbiosis - Joud Hajjar, MD, MS
9:30 – 9:45am ORAL ABSTRACT: Neuroimmunology: PIK3R1 Ile571TyrfsTer31 plays an important role in neuronal function and survival - Farinaz Safavi, NIAID, NIH
Moderators: Stuart Tangye, PhD & Sophie Hambleton
10:15 – 10:40am Xenopus laevis, the Frog Prince of animal models - Jacques Robert, PhD, University of Rochester
10:40 – 11:05am Naturalizing mouse models for immunology - Andrea Graham, PhD, Princeton University
11:05 – 11:30am Dissecting inborn errors of immunity in humans and mice - Carrie Lucas, PhD, Yale University
11:30 – 11:45am ORAL ABSTRACT: A Human STAT3 Gain of Function Variant Drives Th17 Expansion and IL-22-dependent Skin Inflammation in a Model of Psoriasiform Dermatiti - Kelsey Toth, Washington University St. Louis
Moderators: Elie Haddad, MD, PhD; Kelli Williams, MD, MPH & Eric Allenspach, MD, PhD
Moderators: Jenny Shin, MD, PhD & David Hagin, MD, PhD
4:30 – 4:55pm Epigenetic and Transcriptional Dysregulation in Common Variable Immunodeficiency - Esteban Ballestar, PhD, Josep Carreras Leukaemia Research Institute
4:55 – 5:20pm Thymic injury, aging and regeneration - Marcel van den Brink, MD, PhD, Memorial Sloan Kettering
5:20 – 5:45pm CD8 T cell Senescence - Sarah Henrickson, MD, PhD, CHOP
5:45 – 6:10pm The immune factors driving DNA methylation variation in human blood - Jacob Bergstedt, PhD, Karolinksa Institute
6:10 – 6:25pm ORAL ABSTRACT: Outcomes of HLA-mismatched HSCT with TCRαβ/CD19 depletion or post-transplant cyclophosphamide in patients with inborn errors of immunity – an EBMT inborn errors working party analysis - Michael Albert, University Hospital, LMU
6:25 - 6:40pm ORAL ABSTRACT: CDC45 haploinsufficiency as a novel cause of natural killer cell deficiency - Nicole Guilz, Columbia University
Moderators: Joud Hajjar, MD, PhD, MS & Carrie Lucas, PhD
How NBS changed the history of SCID outcome
Jennifer Puck, MD, PhD, UCSF
Sponsored by: 
Sunday, May 217:00 – 8:00am Breakfast8:00 – 10:00am | Plenary Session #10: Development Immunology and Impact on PID/IEIModerators: Jacquie Squire, MD & TBD 8:00 – 8:30am Diversity of NK cell developmental pathways by single cell analyses - Emily Mace, PhD, Columbia University 8:30 – 9:00am The ABC of B Cell Development - Stuart Tangye, PhD, Garvan Institute 9:00 – 9:30am Novel insights into human thymus and T cell development and function through the study of inborn errors of immunity - Marita Bosticardo, PhD, NIH 9:30 – 10:00am ILCs in Health: Infection Diseases and Immune Dysregulation - Marco Colonna, MD, Washington University of St. Louis 10:00 – 10:20am BREAK10:20am – 12:20pm | Plenary Session #11: Hot New Defects in IEIsModerators: Carrie Lucas, PhD & Roshini Abraham, PhD 10:20 – 10:45am Sharpin deficiency: The Missing Factor In LUBAC PID/IEI - Ivona Aksentijevich, MD, National Human Genome Research Institute 10:45 – 11:00am Muller morphs redefined by a multimorphic IRF4 variant presenting as CID with PCP susceptibility - Ruben Martinez Barricarte, PhD, Vanderbilt University Medical Center 11:00 - 11:15am Newborn screening has improved the survival of infants with severe combined immunodeficiency (SCID) – a Primary Immune Deficiency Treatment Consortium - Elie Haddad, MD PhD, CHU Ste-Justine, University of Montreal 11:15 - 11:30am AIOLOS haploinsufficiency is associated with immunodeficiency, autoimmunity, and allergy - Hyesun Kuehn, PhD, NIH/CC/DLM1 11:30 - 11:45 Results of a Phase 3 Trial of an Oral CXCR4 Antagonist, Mavorixafor, for Treatment of Patients With WHIM Syndrome - Raffaele Badolato, MD, PhD, PRECISIONscientia on behalf of X4 11:45 – 12:00pm Dominant interfering CARD11 variants disrupt JNK signaling in T cells and impaired CARD11-JNK signaling increases expression of GATA3 - Bradly Bauman, Uniformed Services University of the Health Sciences 12:00 - 12:15pm Encephalitis and poor neuronal death-mediated control of herpes simplex virus in human inherited RIPK3 deficiency - Zhiyong Liu, The Rockefeller University
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May 18 - 21, 2023
Pre-Conference and Annual Meeting
May 18, 2023 - January 2024
Virtual Content Available through Swapcard
