7:00 – 8:00am Breakfast
8:00 – 8:30am Review of Autoinflammatory Diseases - Raphaela Goldbach-Mansky, MD, National Institutes of Health
8:30 – 9:00am Complement - Kate Sullivan, MD, PhD, Children's Hospital of Philadelphia
9:00 – 9:30am The Hyper IgE Syndromes: monogenic Susceptibility to Allergy and Recurrent Infections - Alexandra Freeman, MD, National Institutes of Health
9:30 – 10:00am BREAK
10:00 – 10:30am Assessing humoral immune response and proliferation - James Verbsky, MD, PhD, Medical College of Wisconsin
10:30 – 11:00am Laboratory evaluation of NFkB pathway defects - Roshini Abraham, PhD, Nationwide Children's Hospital
11:00 – 11:30am NK Cell Defects - Emily Mace, PhD, Columbia University
11:30am – 12:30pm LUNCH
12:30 – 1:00pm Bone Marrow Failure Syndromes, Alison Bertuch, MD, PhD, Baylor College of Medicine/Texas Children's Hospital
1:00 – 1:15pm Oral Abstract - Clinical Characteristics Associated With Mortality Among Patients With Congenital Athymia Treated With Allogeneic Processed Thymus Tissue-agdc, Natalia Chaimowitz, MD, PhD, Cook Children's Health Care System
1:15 – 1:30pm Oral Abstract - CD8+ T Cells and Monocytes from Children with Secondary Hemophagocytic Lymphohistiocysis (HLH) During Rheumatic Disease Share Transcriptional Changes with Other Forms HLH and Inflammatory Diseases, Susan Canny, MD, PhD, University of Washington
Elie Haddad, MD, PhD
CIS President and 2024 Program Co-Chair
Jordan Orange, MD, PhD
Columbia University
Moderators: TBD
2:30 – 2:50pm PU.1-associated inborn errors of immunity: new mutations, phenotypes, and inheritance patterns, Ainsley V.C. Knox, BA, Children’s Hospital of Philadelphia
2:50 – 3:10pm Biallelic OSMR deficiency causes a novel primary atopic disorder, Simran Samra, BC Children’s Hospital Research Institute
3:10 – 3:30pm Predictive Model for Aiding in Early Common Variable Immunodeficiency Diagnosis, Nouf Alsaati, MD, MMSc, Children's Hospital of Philadelphia
3:30 – 3:50pm Molecular and functional identification of unstable regulatory and autoreactive effector T cells that are expanded in patients with FOXP3 mutation, Rosa Bacchetta, MD, Stanford University School of Medicine
3:50 – 4:10pm PD-1 Inhibition with Nivolumab Can Cure EBV-driven Lymphoproliferative Disorders, Avoiding Need for Toxic Allogeneic Bone Marrow Transplantation, Eleanor C. Cook, MBBS, Cincinnati Children’s Hospital Medical Center
Moderators: Elena Hsieh, MD; Eric Allenspach, MD, PhD;
4:45 – 5:00pm Human germline gain-of-function in STAT6: from severe allergic disease to lymphoma and beyond, Stuart Turvey, MBBS, DPhil, FRCPC, FCIS, University of British Columbia
5:00 – 5:15pm ITP, Evans, HLH, Shanmuganathan Chandrakasan, MD, FCIS, Emory University School of Medicine, Children's Healthcare of Atlanta
5:15 – 5:35pm Inborn Errors of Immunity Illuminate Mechanisms of Pediatric Inflammatory Bowel Disease, Elena WY Hsieh, MD, University of Colorado Denver
5:35 – 5:50pm Oral Abstract - RAB27A deficiency: Clinical, immunological and genetic features in 130 patients with Griscelli syndrome type 2, Jesmeen Maimaris, MD, PhD, University College London
5:50 – 6:15pm Question & Answer Time with All Speakers
Moderators: TBD
Gene Therapy for Inborn Errors of Immunity
Donald Kohn, MD, FCIS, University of California, Los Angeles
*Separate ticket purchase required*
At the Mill City Museum, featuring the CIS Band, the Immunogoblins!
Sponsored By:
Thursday, May 2 |
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Moderators: Christen Ebens, MD, MPH; Despina Moshous, MD, PhD
8:00 – 8:15am Overcoming Poor Outcomes: Novel Approaches to BMT in STAT1 GOF, Joseph Hai Oved, MD, MA, Memorial Sloan Kettering Cancer Center
8:15 – 8:35am Novel Non-Toxic Conditioning Regimens for Blood and Immune Disorders, Harry Malech, MD, NIAID
8:35 – 8:55am HCT in Typical and Atypical Presentations of HLH, Despina Moshous, MD, PhD, Hôpital Necker-Enfants Malades
8:55 – 9:15am HSCT for IEI in adults, Emma Morris, MB BChir, MA, PhD, FRCP, FRCPath, FMedSci, University College London
9:15 – 9:30am Oral Abstract - Unique challenges and unique solutions in hematopoietic stem cell transplantation for rare inborn errors of immunity, Kavitha Ganesan, MD, Apollo Hospitals
9:30 – 10:00am Question & Answer Time with All Speakers
Moderators: Stuart Turvey, MBBS, DPhil, FRCPC, FCIS;
10:30 - 10:45am Diagnosis in IEIs – What Test to Order, Catherine Biggs, MSc, MD, BSc, BC Children's Hospital
10:45 – 11:00am Interpreting Genetic Tests In IEIs: Experience Of The Complex Immune Dysregulation Program In Alberta, Ashish Marwaha, BMBCh PhD, University of Calgary
11:00 – 11:07am NY ROYAL: A communal model for clinical and research assessment of variants in genetic diseases of the immune system, Josh Milner, MD, Columbia University
11:07 – 11:14am Clingen for VUS, Ivan Chinn, MD, Texas Children’s Hospital/Baylor College of Medicine
11:14 – 11:25am Novel clinical approach to SOCS1 Haploinsufficiency, Hsi-en Ho, MD, Icahn School of Medicine at Mount Sinai
11:25 – 11:40am Oral Abstract - C-terminal mutants in IRF8 associated with mild natural killer cell deficiency, Luis Pedroza, PhD, Columbia University
11:40am – 12:00 pm Question & Answer Time with all Speakers
Moderators: TBD
Severe Infections: When the Host is the Culprit
Steven Holland, MD, National Institutes of Health
Moderators: Elie Haddad, MD, PhD; Kelli Williams, MD; Eric Allenspach, MD, PhD
2:30 – 3:00pm Case #1: Christine Seroogy, MD, University of Wisconsin, Madison
3:00 – 3:30pm Case #2: Eric Allenspach, MD, PhD, Seattle Children's/University of Washington
3:30 – 4:00pm Case #3: Nicholas Hartog, MD, Helen DeVos Children's Hospital
Moderators: Stuart Turvey, MBBS, DPhil, FRCPC, FCIS
4:30 – 4:45pm 70% of missing diagnosis - Why and How Can It Be Improved, Ivona Aksentijevich, MD, FCIS, Human Genome Research Institute
4:45 – 5:00pm VEXAS Syndrome: Somatic Mutations in Immune Diseases, David Beck, Md, PhD, NYU Langone Health
5:00 – 5:15pm Genetic Architecture of Incomplete Penetrance, Dusan Bogunovic, PhD, Icahn School of Medicine at Mount Sinai
5:15 – 5:30pm Oral Abstract - Patterns and Presentations of Mosaic Variation In Monogenic Acquired Errors Of Immunity, Stuart Tangye, PhD, Garvan Institute
5:30 – 6:00pm Question & Answer Time With All Speakers
Moderator: TBD
TBD
Troy Torgerson, MD, PhD, Allen Institute for Immunology
Sponsored by:
Friday, May 3
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Sponsored by:
Moderators: Donald Kohn, MD, FCIS;
8:00 – 8:20am Gene Therapy for ADA-SCID, Don Kohn, MD, FCIS, UCLA
8:20 – 8:40am Base Editing, Prime Editing and beyond, David Liu, PhD, Harvard University
8:40 – 9:00am Regulatory considerations for Advancing Gene Therapy in the Clinic, Peter Marks, MD, PhD, Food and Drug Administration
9:00 – 9:30am Question & Answer Time With All Speakers
TBD
Ana Núñez, MD, FACP, University of Minnesota
Moderators: TBD
10:45 – 11:05am Double Trouble: IL-1, IL-18, & a lifetime of living dangerously, Scott Canna, MD, Children’s Hospital of Philadelphia
11:05 – 11:20am Biologics and Inhibitors for IEIs, Manish Butte, MD, PhD, UCLA
11:20 – 11:40am JAKi for Fungal Infections and Autoimmunity in APS-1/APECED, Michail Lionakis, MD, ScD, NIAID
11:40 – 11:55am Oral Abstract - c1q Deficiency is an interferonopathy often refractory to Fresh Frozen Plasma, Eric Allenspach, MD, PhD, Seattle Children's Research Institute/University of Washington
11:55am – 12:15pm Question & Answer Time With All Speakers
Sponsored by:
Moderators: TBD
2:45 – 3:05pm Role of the intestinal microbiota in chronic granulomatous disease, Liana Falcone, MD, PhD, IRCM-Montreal Clinical Research Institute
3:05 – 3:25pm Enteric Virus-Associated Liver Disease in CVID, XLA and Post-HCT, Including Role of Aichi Virus, Benedicte Neven, MD, Hôpital Necker-Enfants Malades
3:25 – 3:40pm Microbiome and Metabolomic Abnormalities in RAG Deficiency: Impact on Immune Dysregulation, Francesca Pala, PhD, NIAID
3:40 – 3:55pm Oral Abstract -Outcomes Following Hematopoietic Cell Transplant for CD3δ Severe Combined Immune Deficiency: a PIDTC Natural History Study, Nicola AM Wright, MD, MSc, University of Calgary
3:55 – 4:15pm Question & Answer Time With All Speakers
Maggie A. Morris Fears, PhD
Program Officer
Autoimmunity and Primary Immunodeficiency Diseases Section
Autoimmunity and Mucosal Immunology Branch
DAIT NIAID NIH DHHS
Moderators: TBD
TBD
Gay Crooks, MBBS, UCLA
Sponsored by:
Moderators: TBD
8:00 – 8:20am How I Manage Severe HPV-Related Diseases, Andrea Lisco, MD, PhD, NIAID
8:20 – 8:40am How I Manage Complications in CVID, Klaus Warnatz, MD, Medical Center, University of Freiburg
8:40 – 9:00am Treating with Immune globulin: Things I learned over time, not in the books!, Charlotte Cunningham Rundles, MD, PhD, MSSM
9:00 – 9:30 am Question and Answer Time With All Speakers
Moderators: TBD
9:45 – 10:00am Oral Abstract - A Novel mutation in proteasomal gene PSMD7 results in activation of NLRP3 inflammasome and potentially predisposes to Necrotizing Fasciitis, Eirini Kalogerakou, MSc, Clinicum, Translational Immunology Program, University of Helsinki
10:00 – 10:15am Oral Abstract - Mutations in CHUK and immunodeficiency with immune dysregulation, Quentin Riller, MD, PhD, Imagine Institute
10:15 - 10:30am Oral Abstract - ICOS Agonist Vopratelimab Modulates Follicular Helper T Cells and Improves B Cell Function in Common Variable Immunodeficiency, Charlotte Cunningham-Rundles, MD PhD, Icahn School of Medicine, Mount Sinai Hospital
10:30 - 10:45am Oral Abstract - IKAROS negatively regulate memory T cell formation in humans, Ravichandra Tagirasa, PhD, NIH
10:45 - 11:00am Oral Abstract - Human ASXL1 Deficiency Causes Epigenetic Dysfunction, Combined Immunodeficiency and EBV–Associated Hodgkin Lymphoma, Maggie P. Fu, BSc, University of British Columbia
11:00 AM – 11:15am Oral Abstract - A multimorphic variant in ThPOK causes a novel human disease characterized by T cell immune developmental abnormalities, immunodysregulation, atopy, and organ fibrosis, Maryam Vaseghi-Shanjani, BSc MSc, University of British Columbia
11:15 - 11:30am Oral Abstract - Biallelic null mutations in PPM1D cause a novel combined immunodeficiency with severe neurodevelopmental defects, Ana Esteve-Sole, PhD, Immunology Service, Department of Laboratory Medicine, Clinical Center, National Institutes of Health
11:30 – 11:50am Question and Answer Time With All Speakers
2025 Annual Meeting
May 1 - 4, 2025
Philadelphia, PA
2026 Annual Meeting
May 6 - 9, 2026
New Orleans, LA