|
Thursday, April 10
|
|
|
|
7:50AM – 5:15pm
|
School on Diagnostic Assessment of Immune Phenotyping and Function in PIDs
|
Key 6 Ballroom
|
|
6:00pm – 6:10pm
|
Welcome from CIS President
John Routes, MD
Medical College of Wisconsin
|
Key 6 Ballroom
|
|
6:10pm – 7:00pm
|
Robert A. Good Lecture: Opening Lecture
1 AMA PRA Category 1 Credits™
Moderator:
Charlotte Cunningham-Rundles, MD PhD
Mt. Sinai Medical Center
Speaker:
Molecular Regulation of Humoral Immune Rresponses – Insights from PIDs
Stuart G. Tangye, PhD
Garvan Institute of Medical Research
|
Key 6 Ballroom
|
|
7:00pm – 8:30pm
|
Opening Reception
|
Key 8-12 Ballroom
|
|
Friday, April 11
|
|
|
|
7:00am - 8:00am
|
Breakfast
|
Key Foyer South
|
|
7:30am– 8:00am
|
Guided Poster Session
Group 1
Moderator:
Kathleen E. Sullivan, MD PhD
Children's Hospital of Philadelphia
Guided Posters:
EARLY DETECTION OF JUVENILE MYELOMONOCYTIC LEUKEMIA (JMML) DUE TO ABSENT TRECS ON NEWBORN SCREENING (NBS) FOR SEVERE COMBINED IMMUNODEFICIENCY (SCID)
Richard L. Wasserman, MD PhD
Medical City Children's Hospital
KABUKI SYNDROME IS ASSOCIATED WITH IMMUNE DYSFUNCTION FEATURING NOT ONLY IMMUNE DEFICIENCY BUT ALSO AUTOIMMUNITY AND LYMPHOPROLIFERATION
Mark C. Hannibal, MD PhD
University of Michigan
IMPULSE OSCILLOMETRY (IOS) REVEALS INCREASED PULMONARY IMPEDENCE IN CHILDREN WITH ADENOSINE DEAMINASE-DEFICIENT SEVERE COMBINED IMMUNODEFICIENCY (ADA-SCID)
Robert Sokolic, MD
National Human Genome Research Institute, NIH
FOOD ALLERGY IN PRIMARY IMMUNODEFIENCY DISEASES: PREVALENCE WITHIN THE USIDNET REGISTRY
Karen Thursday S. Tuano, MD
Baylor College of Medicine
DISTURBED B AND T CELL HOMEOSTASIS AND NEOGENESIS IN PATIENTS WITH ATAXIA TELANGIECTASIA
Raz Somech, MD PhD
Edmond and Lily Safra Children's Hospital
Group 2
Moderator:
Ralph S. Shapiro, MD
Midwest Immunology Clinic
Guided Posters:
HYPER IGM SYNDROME AND EBV INDEPENDENT HEMATOLOGIC MALIGNANCY ASSOCIATED WITH GAIN OF FUNCTION MUTATIONS IN PIK3CD
Jennifer K. Grossman, MD FRCPC
HIGH THROUGHPUT SEQUENCING OF THE T CELL AND B CELL RECEPTOR REPERTOIRES IN PATIENTS WITH WISKOTT ALDRICH SYNDROME
Amy E. OConnell, MD PhD
Boston Children's Hospital
IL-17 T CELLS' DEFECTIVE DIFFERENTIATION IN VITRO DESPITE NORMAL RANGE EX VIVO IN CHRONIC MUCOCUTANEOUS CANDIDIASIS DUE TO STAT1 GAIN OF FUNCTION MUTATION
Mohamed-Ridha Barbouche
Institut Pasteur De Tunis and University Tunish El Manar
COEXISTENCE OF CLONAL EXPANDED AUTOLOGOUS AND TRANSPLACENTAL-ACQUIRED MATERNAL T CELLS IN RAG1-DEFICIENT SCID
Atar Lev
Sheba Medical Center
|
Key 8-12 Ballroom
|
|
8:00am– 10:00am
|
Plenary: The Colonizers and Us
2 AMA PRA Category 1 Credits™
Moderator:
Alexandra Freeman, MD
National Institute of Allergy and Infectious Diseases
National Institutes of Health
Speakers:
Scott Snapper, MD
Boston Children’s Hospital
Gut Microbes: Source of Therapeutics Against Inflammatory Demyelination in the Central Nervous System
Javier Ochoa-Reparaz, PhD
Sanford-Burnham Medical Research Institute
Lloyd Kasper, MD
Geisel School of Medicine at Dartmouth
Oral Abstract:
CHARACTERIZATION OF NEUTROPHIL DEATH AND DYSFUNCTION IN VPS45 MUTATED CELLS FROM PATIENTS WITH SEVERE CONGENITAL NEUTROPENIA 5 (SCN5)
Amos J. Simon
Sheba Medical Center-Tel Hashomer
|
Key 6 Ballroom
|
|
10:00am-10:30am
|
Morning Break
|
Key Foyer South
|
|
10:30am-11:30am
|
Tales from the Listserv
1 AMA PRA Category 1 Credits™
Moderator:
Elie Haddad, MD PhD
CHU Ste-Justine, University of Montreal
Speakers:
Mystery Case
Jane Peake, MBBS FRACP DTM&H
Royal Children's Hospital
Should We Transplant?
Yesim Yilmaz Demirdag, MD
Columbia University Medical Center
Abnormal Newborn Screen and T-Cell Lymphopenia in Cardiac Surgery Patients
Richard L. Wasserman, MD PhD
Medical City Children’s Hospital
|
Key 6 Ballroom
|
|
11:30am– 1:00pm
|
Lunch / Poster Viewing / Exhibit Hall Open
|
Key 8-12 Ballroom
|
|
1:00pm – 3:00pm
|
Plenary: Infectious Manifestations of PID Around the World
2 AMA PRA Category 1 Credits™
Moderator:
Sarah Browne, MD
National Institute of Allergy and Infectious Diseases
National Institutes of Health
Speakers:
Endemic infections in SE Asia as indicators for PID
Yu-Lung Lau, MB ChB MD
The University of Hong Kong
Complement Deficiencies and Increased Susceptibility to Meningococcal Disease in South Africa
Ann Orren, BSc MB ChB MD
ADCRU, Departments of Medicine and Chemical Pathology, University of Cape Town
Institute of Infection and Immunity School of Medicine, Cardiff , University, UK
BCG Vaccination in SCID Patients: Complications, Risks, Policies and time for a change
Sergio Rosenzweig, MD PhD
National Institute of Allergy and Infectious Diseases
National Institutes of Health
Oral Abstracts:
CRYPTOCOCCAL MENINGITIS ASSOCIATED WITH AUTO-ANTIBODIES AGAINST GM-CSF: A CASE REPORT
Merin E. Kuruvilla, MD
UTSW Medical Center
ANTI-GM-CSF AUTOANTIBODIES IN PATIENTS WITH NOCARDIOSIS OF THE CENTRAL NERVOUS SYSTEM
Lindsey B. Rosen
NIAID, NIH
RECURRENT SPONTANEOUS CENTRAL NERVOUS SYSTEM CANDIDIASIS: WHAT TO DO WHEN THE CARDS ARE STACKED AGAINST YOU?
Donald C. Vinh, MD
McGill University Health Centre
|
Key 6 Ballroom
|
|
3:00pm–3:30pm
|
Afternoon Break
|
Key Foyer South
|
|
3:30pm – 5:00pm
|
Concurrent Workshops
Session 1: Malignancy in PIDD
1.5 AMA PRA Category 1 Credits™
Moderator:
Helen Su, MD PhD
National Institute of Allergy and Infectious Diseases
National Institutes of Health
Speakers:
Cancer in Primary Immunodeficiences
Brahm H. Segal, MD FACP FIDSA
Roswell Park Cancer Institute
Viral Susceptibility and Malignancy in DOCK8 Immunodeficiency
Helen Su, MD PhD
National Institute of Allergy and Infectious Diseases
National Institutes of Health
Patricia Lugar, MD
Duke Medical Center University
EPIGENTIC MARKERS OF LYMPHOMA IN ATAXIA-TELANGIECTASIA
Burcin Uygungil, MD
Children's National Health Systems
|
Key 2 Ballroom
|
|
Session 2: Bugs and Drugs
1.5 AMA PRA Category 1 Credits™
Moderator:
Steve Holland, MD
National Institute of Allergy and Infectious Diseases
National Institutes of Health
Speakers:
Alexandra Freeman, MD
National Institute of Allergy and Infectious Diseases
National Institutes of Health
Novel Anti-bacterial Effector Pathway, Perforin-2, Provides a New Paradigm for Cellular Defense Against Bacterial Pathogens
Eckhard Podack, MD
University of Miami
The Application of Genome-Sequencing to Track the Spread of Hospital-Associated Infections
Evan Snitkin, PhD
National Human Genome Research Institute
National Institutes of Health
Oral Abstract:
DOCK8 REGULATES LYMPHOCYTE SHAPE INTEGRITY FOR SKIN ANTIVIRAL RESPONSES
Qian Zhang, MD
National Institute of Allergy and Infectious Diseases
National Institutes of Health
|
Key 6 Ballroom
|
|
5:00pm – 5:15pm
|
Refreshment Break
|
Key Foyer South
|
|
5:15pm–6:15pm
|
The CIS Fahey/Rose Founders Lecture
1 AMA PRA Category 1 Credits™
Moderator:
James Verbsky, MD PhD
Medical College of Wisconsin
Speaker:
Alexander Rudensky, PhD
Memorial Sloan-Kettering Cancer Center
|
Key 6 Ballroom
|
|
Saturday, April 12
|
|
|
|
7:30am –9:00am
|
Concurrent Breakfast Sessions
Session 1: Immune Globulin & Replacement Therapy: Individualizing a Regimen
1.5 AMA PRA Category 1 Credits™
Moderator:
Vincent R. Bonagura, MD
Alexandra and Steven Cohen Children’s Medical Center of NY
Panelists:
Carla Duff, CPNP MSN CCRP
USF at All Children’s Hospital
Mary Hintermeyer, APNP
Children’s Hospital of Wisconsin
Richard L. Wasserman, MD, PhD
Medical City Children’s Hospital
M. Elizabeth Younger, CPNP PhD
Johns Hopkins
|
Key 6 Ballroom
|
|
Session 2:
Targeted Manipulation of the Genome
1.5 AMA PRA Category 1 Credits™
Moderator:
Luigi D. Notarangelo, MD, PhD
Children’s Hospital Boston
Harvard Medical School
Speakers:
Engineering T Cells for Cancer and HIV
Carl June, MD
University of Pennsylvania
Gene Correction of Hematopoietic Stem Cells for Severe Combined Immunodeficiency Diseases
Matthew Porteus, MD
Stanford School of Medicine
Nuclease-Mediated Genome Engineering for Adoptive T-cell Therapies
Andy Scharenberg, MD
University of Washington
Oral Abstract:
TARGETED GENE THERAPY IN THE TREATMENT OF X-LINKED HYPER-IgM SYNDROME
Caroline Kuo, MD
UCLA Medical Center
|
Key 2 Ballroom
|
|
9:00a – 9:30am
|
CIS Business Meeting
|
Key 6 Ballroom
|
|
9:30a – 10:00am
|
Morning Break & Guided Poster Sessions
Group 1
Moderator:
Kathleen E. Sullivan, MD PhD
Children's Hospital of Philadelphia
Guided Posters:
IPEX AND ‘IPEX-LIKE' SYNDROME: FOXP3 AND RELATED PATHWAY
Eleonora Gambineri, MD
University of Florence
FATAL HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS (HLH) IN A 24 YEAR OLD FEMALE DUE TO PREVIOUSLY UNDIAGNOSED PRF1 P.T450M MUTATION IN THE C2 DOMAIN
Sara Barmettler, MD
Yale-New Haven Hospital
PROTEIN MODELING LED TO THE DISCOVERY THAT MUTATIONS IN THE GENE ENCODING PI(3)K CATALYTIC SUBUNIT p110d (PIK3CD) CAUSE PASLI (p110d ACTIVATING MUTATION CAUSING SENESCENT T CELLS, LYMPHADENOPATHY, AND IMMUNODEFICIENCY) DISEASE
Julie E. Niemela, MS MLS
NIH
GAIN OF STAT1 SIGNALING ASSOCIATED WITH OVERLAPPING PATHOPHYSIOLOGY IN STAT3, IL21R AND STAT1 MUTANT PATIENTS
Diego B. Lopez
NIH
Group 2
Moderator:
Ralph S. Shapiro, MD
Midwest Immunology Clinic
Guided Posters:
ALTERED T CELL RECEPTOR DEVELOPMENT AND DIFFERENTIATION IN X-LINKED AGAMMAGLOBULINEMIA
Manish Ramesh, MBBS PhD
Icahn School of Medicine at Mount Sinai
STAT1 GAIN OF FUNCTION MUTATIONS ARE INFREQUENT IN PULMONARY NONTUBERCULOUS MYCOBACTERIAL INFECTION
Eva P. Szymanski, BS
National Institutes of Allergy & Infectious Diseases
INVESTIGATING THE ROLE OF INDUCIBLE T-CELL KINASE IN CD8+ T-LYMPHOCYTE CYTOLYTIC EFFECTOR FUNCTION
Senta Kapnick
NHGRI, NIH
SOMATIC REVERSION IN DOCK8 IMMUNODEFICIENCY MODULATES DISEASE PHENOTYPE
Huie Jing, PhD
NIAID, NIH
|
Key 8-12 Ballroom
|
|
10:00am-12:00pm
|
Plenary: Cellular Therapies
2 AMA PRA Category 1 Credits™
Moderator:
Francisco A. Bonilla, MD PhD
Children’s Hospital Boston
Speakers:
Troy Torgerson, MD PhD
University of Washington
Virus Specific T-cell Therapy Post Transplant - Broadening Applicability
Catherine Bollard, MD
Children’s National Medical Center
Elie Haddad, MD PhD
CHU Ste-Justine, University of Montreal
Defects in CD8+ T cells predisposing to susceptibility to EBV infection
Stuart G. Tangye, PhD
Garvan Institute of Medical Research
Oral Abstract:
ADOPTIVE TRANSFER OF ANTI-VIRAL CYTOTOXIC T LYMPHOCYTES TO IMPROVE SURVIVAL IN PRIMARY IMMUNODEFICIENCY PATIENTS INDEPENDENT OF HEMATOPOIETIC STEM CELL TRANSPLANT
Sarah K. Nicholas, MD
Baylor College of Medicine
DIFFERENTIAL ROLE FOR DNA LIGASE 4, ARTEMIS AND DNA-PKCS IN THE GENERATION, DNA DAMAGE RESPONSE AND MYELOID DIFFERENTIATION OF HUMAN IPS CELLS
Kerstin Felgentreff, MD
Boston Children's Hospital
|
Key 6 Ballroom
|
|
12:00pm–1:30pm
|
Lunch / Poster Viewing / Exhibit Hall Open
|
Key 8-12 Ballroom
|
|
1:30pm–3:30pm
|
Plenary Session: Hot New Defects
2 AMA PRA Category 1 Credits™
Moderator:
Elena E. Perez, MD PhD
University of Miami School of Medicine
Speakers:
Very Early Defects in B Cell Development
Mary Ellen Conley, MD
Rockefeller University
New Genetic Etiologies of PIDs
Capucine Picard, MD PhD
Hôpital Necker - Enfants Malades
Gulbu Uzel, MD
National Institute of Allergy and Infectious Diseases
National Institutes of Health
Oral Abstracts:
A NOVEL CONGENITAL DISORDER OF GLYCOSYLATION, AGM1-CDG, WITH T-B-NK+ SCID, NEUTROPENIA AND SKELETAL DYSPLASIA, CAUSED BY MUTATIONS IN THE GENE ENCODING PHOSPHOACETYLGLUCOSAMINE MUTASE 1
Niti Y. Chokshi, MD
Baylor College of Medicine
ERBB2IP MUTATIONS DISRUPT TGF-ß PATHWAY SIGNALING IN SYNDROMIC ATOPY IN HUMANS
Jonathan Lyons, MD
NIH / NIAID
NOVEL IMMUNODYSREGULATION DISORDER ASSOCIATED WITH A GAIN-OF-FUNCTION MUTATION IN AN UBIQUITOUS G-PROTEIN COUPLED RECEPTOR REGULATOR
Ian T. Lamborn, BSc
NIAID/NIAID
|
Key 6 Ballroom
|
|
3:30pm–4:00pm
|
Afternoon Break
|
Key Foyer South
|
|
4:00pm – 6:00pm
|
Plenary: Innate Immunity & Inflammation
2 AMA PRA Category 1 Credits™
Moderators:
Artemio M. Jongco, III, MD PhD
Feinstein Institute of Medical Research
Joyce T. Hsu, MD
Children’s Hospital Boston
Speakers:
Jordan Orange, MD PhD
Baylor College of Medicine
Raphaela Goldbach-Mansky, MD
National Institute of Arthritis and Musculoskeletal and Skin Diseases
National Institutes of Health
Sophie Hambleton, MD PhD
Newcastle University Medical School
Oral Abstracts:
IMPAIRMENT OF T-INDEPENDENT ANTIBACTERIAL IGM RESPONSES DUE TO IRAK-4 AND MYD88-DEFICIENCIES
PJ Maglione, MD PhD
Mount Sinai School of Medicine
AUTOSOMAL RECESSIVE PGM3 MUTATIONS LINK GLYCOSYLATION DEFECTS TO ATOPY, IMMUNE DEFICIENCY, AUTOIMMUNITY, AND NEUROCOGNITIVE IMPAIRMENT
Yu Zhang
National Institutes of Health
A NEW CASE OF HEREDITARY PULMONARY ALVEOLAR PROTEINOSIS CAUSED BY CSF2RB MUTATION: IMPORTANCE OF FUNCTIONAL TESTING AND BIOLOGICAL FEATURES TO EVOKE THE DIAGNOSIS
Jean Jacques De Bruycker, MD
Sainte-Justine Hospital
|
Key 6 Ballroom
|
|
6:00pm – 7:30pm
|
CIS Past Presidents Reception
Please note that this reception is open to everyone
|
Key 8-12 Ballroom
|
|
Sunday, April 13
|
|
|
|
8:00am – 9:30am
|
Concurrent Breakfast Sessions
Session 1: Proactive Surveillance
1.5 AMA PRA Category 1 Credits™
Moderator:
Burcin Uygungil, MD
Children's National Health Systems
Speakers:
Proactive Surveillance: The Goldilocks Problem
Charlotte Cunningham-Rundles, MD PhD
Mt. Sinai Medical Center
Howard Lederman, MD PhD
Johns Hopkins
David T. Teachey, MD
Children's Hospital of Philadelphia
University of Pennsylvania School of Medicine
Oral Abstract:
CLINICAL PHENOTYPE OF IDIOPATHIC CD4 LYMPHOPENIA (ICL)
Alexandra F. Freeman, MD
NIH/NIAID
|
Key 2 Ballroom
|
|
Session 2: Genetic Testing
1.5 AMA PRA Category 1 Credits™
Moderator:
Thomas A. Fleisher, MD
National Institutes of Health
Speakers:
Clinical Genomics in Immunology
James Lupski, MD, PhD
Baylor College of Medicine
Whole Genome Sequencing for Primary Immunodeficiency
Talal Imad Mousallem, MD
Wake Forest University
Oral Abstract:
HEREDITARY ANGIOEDEMA WITHOUT C1 INHIBITOR DEFICIENCY: EVALUATION OF 11 BRAZILIAN FAMILIES
Anete Sevciovic Grumach, MD PhD
University of Sinsertinsern Paulo
|
Key 2 Ballroom
|
|
9:30am – 9:45am
|
Morning Break
|
Key Foyer South
|
|
9:45am-10:00am
|
CHARACTERIZATION OF ANTIBODIES REACTIVE WITH RECOMBINANT HUMAN HYALURONIDASE (rHuPH20) FROM TREATMENT NAÏVE PLASMA DONORS AND PID SUBJECTS TREATED WITH IGHy
Sanna Rosengren, PhD
Halozyme Therapeutics
|
Key 6 Ballroom
|
|
10:00am-12pm
|
Plenary: Targeted Therapies
2 AMA PRA Category 1 Credits™
Moderator:
Michael D. Keller, MD
Children’s National Health System
Speakers:
Michael Jordan, MD
Cincinnati Children’s Hospital Medical Center
Jakinibs 2014
John J. O’Shea, MD
National Institute of Arthritis and Musculoskeletal and Skin Diseases
National Institutes of Health
John Routes, MD
Medical College of Wisconsin
Oral Abstracts:
B CELL-TARGETED THERAPY IN NARCOLEPSY / CATAPLEXY POST H1N1 VACCINATION
Jean Jacques De Bruycker, MD
Sainte-Justine Hospital
CHANGES IN IMMUNOGLOBULIN LEVELS AND T-CELL NUMBERS WITH AGE IN PATIENTS WITH 22Q11.2 DELETION SYNDROME
Solrun Melkorka Maggadottir, MD
Children´s Hospital of Philadelphia
IMUNOGLOBULIN REPLACEMENT TREATMENT - A CULPRIT OF SYMPTOMATIC CHRONIC HAEMOLYSIS
Cinzia Milito
Sapienza University of Rome
|
Key 6 Ballroom
|
