
8:00 - 8:30AM The Post-Thymectomy State and T Cells, Sarah Nicholas, MD, Baylor College of Medicine
8:30 - 9:00AM Immunity and Vaccination post CAR-T Cell Therapy, Mike D. Keller, MD, FCIS, Children's National Hospital
9:00 - 9:30AM Management of the Induced Immune Deficient State in Solid Organ Transplant, Lauren M. Gunderman, MD, University of Washington School of Medicine and Seattle Children's Hospital
9:30 – 10:00AM Immune assays for monitoring patients on immunosuppressive or immunomodulatory therapies, Vijaya Knight, MD, PhD, FCIS,University of Colorado School of Medicine
10:00 – 10:30AM BREAK
10:30 - 11:00 AM Transitioning from pediatric to adult care for IEI patients, Catherine Biggs, MSc, MD, BSc, BC Children's Hospital
11:00 - 11:30 AM Building an Immunology Practice from Scratch, Nick L. Hartog, MD, FAAAAI, Helen DeVos Children's Hospital
11:30 - 12:00 PM IEI Hiding Among Patients with Atopy, Josh D. Milner, MD, FCIS, Columbia University Medical Center
12:00 - 12:30 PM Infection Prevention/Prophylaxis in IEIs, Alexandra F. Freeman, MD, NIH, NIAID, Bethesda, MD
Elie Haddad, CIS President
2:15 - 2:35 PM ORAL ABSTRACT: PPM1D-mediated regulation of the DNA Damage Repair pathway in NK cell development and migration - Ana Esteve-Sole, PhD, Department of Laboratory Medicine, Clinical Center, National Institutes of Health
2:35 - 2:55 PM ORAL ABSTRACT: Massively scalable generation, discovery, and clinical (re-)classification of inborn errors of immunity using cutting-edge genome engineering, Zachary Walsh, BA, Columbia University
2:55 - 3:15 PM ORAL ABSTRACT: Allelic bias contributes to incomplete penetrance of NK cell deficiency, Seungmae Seo, PhD, University of Maryland Eastern Shore
3:15 - 3:35 PM ORAL ABSTRACT: Elevated CD38 expression and a concomitant reduction in NAD+ levels underlie CD8+ T cell dysfunction in STAT1 GOF, Andrea A. Mauracher, MD, PhD, Children’s Hospital of Philadelphia
3:35 - 3:55 PM ORAL ABSTRACT: Enhancer hijacking of the IGH locus as a novel genetic mechanism of an inborn error of immunity leading to invasive Streptococcus pneumoniae infection due to antibody deficiency, Joshua Tobin, BS, Division of Rheuma
4:15 - 4:35 PM Metabolic impacts of IEI genes and immune impacts of IEM genes, TBD
4:35 - 4:55 PM Caring for patients with diseases that impact mTOR and RAS signaling V. Koneti Rao, MD, FRCPA National Institute of Allergy and Infectious Diseases, Bethesda, MD
4:55 - 5:15 PM Interplay amongst metabolic, antigenic, cytokine and hormonal factors in T cell differentiation Naomi Taylor, MD, PhD National Cancer Institute, Bethesda, MD
5:15 - 5:35 PM Metabolic reprogramming of T cell fate, with a focus on mTOR Hongbo Chi, PhD St. Jude Children’s Research Hospital, Memphis, TN
5:35 – 5:50 PM Question & Answer Time with All Speakers
A Decade of APECED at NIH: New Insights into Genetics, Diagnosis, Pathogenesis And Personalized Therapy
Michail S. Lionakis, MD, ScD
National Institutes of Health (NIH), Bethesda, MD
Chairs: Jessica Galant-Swafford, MD; Catherine Biggs, MSc, MD, BSc; Caroline Kuo, MD
1.5 AMA PRA Category 1 Credits™
8:00 - 8:20 AM Use of CPT in IEI Patients With Chronic Viral Infections
Irene Cortese, MD, PhD, National Institutes of Health
8:20 - 8:40 AM Autoimmune Complications of Cancer Immunotherapy
Melissa G. Lechner, MD, PhD, UCLA David Geffen School of Medicine
8:40 - 9:00 AM Infections in BTK inhibitor-treated patients,
Tobias Hohl, MD, PhD, Memorial Sloan Kettering Cancer Center
9:00 - 9:10 AM ORAL ABSTRACT: Anti-cytokine Autoantibodies in Inborn Errors of Immunity with Immune dysregulation
Su-Wan Bianca Chan, MD, KK Women's and Children's Hospital, Singapore
9:10 – 9:30 AM Question & Answer Time with All Speakers
Chairs: Manish Butte, MD, PhD; Ben Solomon, MD, PhD
9:40 - 9:46 AM Validation of an Interferon type I score test on the Nanostring nCounter platform, Samuel Chiang, PhD, Cincinnati Children’s Hospital
9:46 - 9:52 AM Unravelling enigmatic IgE expressing B cells by studying patients with monogenic atopic disorders, Stuart Tangye, PhD, Garvan Institute
9:52 - 9:58 AM Two to Six Year Clinical Outcomes Prior to Treatment with Cultured Thymus Tissue Implantation in Children with Congenital Athymia, Benjamin Stewart-Bates, DO, Duke University
9:58 - 10:04 AM Serum proteome of APECED patients reveals heterogeneity in autoimmune responses associated with clinical outcomes, Iivo Hetemaki, MD, PhD, National Institutes of Health
10:04 - 10:10 AM Atypical B cell expansion and immune dysregulation are promoted by an inflammatory milieu in STAT1GOF and STAT3DN patients, Zixiao (Annie) An, BA, National Institutes of Health
Chairs: TBD
.75 AMA PRA Category 1 Credits™
Addressing Diagnostic Disparities in Inborn Errors of Immunity
Mei-Sing Ong, PhD, Boston Children's Hospital
Chair: Jennifer Leiding, MD
1 AMA PRA Category 1 Credits™
Topic TBD
Kate Sullivan
Join us for an engaging session featuring two physicians who are experts in primary
immunodeficiency (PI). Through detailed case reviews of patients of various ages,
they will present insights in diagnosing and treating PI, offering valuable clinical
observations and a subcutaneous treatment option.
Sponsored by:
Join us for a panel discussion on the publishing process. Editors from JHI and other experts in the field will discuss and answer your questions on the process of publishing including preparing for submission, responding to comments, and reviewing manuscript.
Chairs: Elie Haddad, Eric Allenspach, Kelli Williams
2:30 – 3:00PM Case #1: Jay Jin, MD, PhD, Indiana University School of Medicine
3:00 – 3:30PM Case #2: Neema Izadi, MD, MS, Children's Hospital of Los Angeles, University of Southern California
3:30 – 4:00PM Case #3: Jacques G. Rivière, Vall dHebron University Hospital
4:30 – 4:35PM Introduction to the Session and Brief overview of CVID, Charlotte Cunningham Rundles, MD, PhD, Mt. Sinai Medical Center
4:35 – 4:40PM Case Presentation Introduction – Speaker TBD
4:40 – 4:50PM Role of Genetics and Potential Monogenic Disorders Presenting Like CVID, Xiao P. Peng, MD, PhD, Montefiore Einstein and Albert Einstein College of Medicine
4:50 – 5:00PM Panel Discussion with All Speakers
5:00 – 5:05PM Case Presentation Continues
5:05 – 5:15PM Innovative Diagnostics of Complicated CVID, Jocelyn R. Farmer, MD, PhD, Beth Israel Lahey Health
5:15 – 5:25PM Panel Discussion
5:25 – 5:30PM Case Presentation Final Points
5:30 – 5:40PM Pathogenesis and Management of GI Disease in CVID, Hsi-En Ho, MD, Icahn School of Medicine at Mount Sinai
5:40 – 6:00PM Panel Discussion and Questions with Speakers
Human cross-species immune response to xenografts
Robert Montgomery, MD, DPhil
NYU Langone Health, New York, NY
9:00 - 9:20 AM Sexual hormones, Petter Brodin, MD, PhD, Karolinska Institutet
9:20 - 9:40 AM Impact of Obesity on Immune Function, Sarah E. Henrickson, MD, PhD, The Children's Hospital of Philadelphia, Division of Allergy Immunology
9:40 - 10:00 AM X chromosome inactivation and epigenetic regulation of immune genes, Montserrat C. Anguera, PhD, University of Pennsylvania School of Veterinary Medicine
10:00 - 10:10 AM ORAL ABSTRACT: Thymoma-associated autoimmunity is Th1 driven and can be ameliorated with baricitinib, Iivo M. Hetemäki, MD, PhD, National Institutes of Health
10:10 - 10:20 AM ORAL ABSTRACT: Autoantibodies in 22q11.2 deletion syndrome with and without schizophrenia, Samantha Y. Starkey, MD
10:30 – 10:36 AM Dissecting the Glycolytic Requirements of Human T cells via G6PC3 Deficiency, Xin Zhen, BSc, Vanderbilt University
10:36 - 10:42 AM DOCK8 Deficiency: extended clinical phenotypes and the impact of somatic reversions, Alexandra Freeman, MD, NIH
10:42 - 10:48 AM Endophilin-A2 deficiency impairs antibody production in humans, Cybel Mehawej, PhD, Lebanese American University
10:48 - 10:54 AM Evaluating Transition and Survival in Adolescents and Young Adults with Inborn Errors of Immunity, Gail Tan, MD, Baylor College of Medicine Allergy and Immunology Fellowship
10:54 AM - 11:00 AM Human heterozygous TBK1 variations lead to Autoinflammation, Yemsratch Akalu, PhD, Columbia University
11:00 - 11:20 AM X-linked Agammagloblinemia - Outcomes Throughout the Life Course, Vivian P. Hernandez-Trujillo, MD, Allergy and Immunology Care Center of South Florida
11:20 - 11:40 AM Needs of Young Adult Patients with SCID After Definitive Therapy, Jennifer Heimall, MD, The Children's Hospital of Philadelphia, Philadelphia, PA
11:40 - 12:00 PM Pregnancy in IEI, Caroline Charlier-Woerther, MD, PhD, Institut Pasteur
12:00 – 12:10 PM ORAL ABSTRACT Identification of Serum Prognostic Biomarkers for 5-year CVIDc Disease Progression, Hsi-En Ho, MD, Icahn School of Medicine at Mount Sinai
12:10 – 12:30 PM Question & Answer Time with All Speakers
Featuring Panelists:
Daniella Schwartz, Nicholas Hartog, and Ben Prince |
2:30 - 2:50 PM Clinical approach to early-onset IBD, Judith R. Kelsen, MD, Children's Hospital of Philadelphia
2:50 - 3:10 PM Exercise Induced Microbiota Metabolite Enhances Cancer Immunotherapy Efficacy, Marlies Meisel, PhD, University of Pittsburgh
3:10 - 3:30 PM Immune Deficiency in IBD, Aleixo Muise, MD, PhD, University of Toronto
3:30 - 3:40 PM ORAL ABSTRACT LTβR deficiency causes lymph node aplasia and impaired B-cell differentiation, Kaan Boztug, MD, LBI for Rare and Undiagnosed Diseases & St. Anna CCRI
3:40 – 4:00 PM Question & Answer Time with All Speakers
Chairs: Elie Haddad, MD, PhD
.75 AMA PRA Category 1 Credits™
Megan Cooper, MD, PhD, Washington University in St. Louis
8:00 - 8:25 AM Autoimmune Cytopenias, Shanmuganathan Chandrakasan, MD, FCIS, Emory University School of Medicine, Children's Healthcare of Atlanta
8:25 - 8:50 AM Idiopathic CD4 Lymphopenia, Irini Sereti, MD, MHS, NIAID, NIH
8:50 - 9:15 AM How I Manage HLH/MAS, Scott W. Canna, MD, Children's Hospital of Philadelphia
9:15 - 9:25 AM ORAL ABSTRACT Treatment of autosomal recessive interleukin-7 deficiency with NT-I7 (efineptakin alfa), long-acting recombinant human interleukin-7: an expanded access protocol, Derek MacMath, MD, National Institutes of Health, National Institute of Allergy and Infectious Diseases
9:45 - 10:00 AM ORAL ABSTRACT Defects in B cell differentiation and antibody production due to biallelic TANK mutation, Janet G. Markle, PhD, Vanderbilt University
10:00 - 10:15 AM ORAL ABSTRACT BCMA deficiency as a novel cause of common variable immunodeficiency, Basak Kayaoglu, PhD, National Institute of Allergy and Infectious Diseases (NIAID)
10:15 - 10:30 AM ORAL ABSTRACT Deep sequencing reveals somatic mosaicism in genes relevant to genetic errors of immunity in a cohort of patients with immune dysregulation, Elizabeth G. Schmitz, BS, Washington University in St. Louis
10:30 - 10:45 AM ORAL ABSTRACT EML4 deficiency causes alveolar macrophage dysfunction and interstitial lung disease, Elissa Deenick, PhD, Garvan Institute of Medical Research/UNSW Sydney
10:45 - 11:00 AM ORAL ABSTRACT Precision Alemtuzumab Dosing Results in Day 0 Target Range Achievement in 80% of IEI Patients and Minimizes Risks of GVHD, Clinically Significant Mixed Chimerism, and Secondary Graft Failure, Rebecca Marsh, MD, Cincinnati Children's Hospital Medical Center
11:00 - 11:15 AM ORAL ABSTRACT HMGCS1 Deficiency Is A Novel Immunometabolic Autoinflammatory Disease With Progressive Myositis, Ivona Aksentijevich, MD, National Human Genome Research Institute
11:15 - 11:30 AM ORAL ABSTRACT Norovirus infection at the NIH Clinical Center from 2010-2023: A comparative analysis of acute vs chronic norovirus infection with a focus on inborn errors of immunity, Karenna M. Barton, BS, National Institutes of Health/NIAID