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The science and practice of human immunology

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2014 Annual Meeting: Primary Immune Deficiency Diseases
North American Conference

April 10 – 13, 2014
Hilton  ~ Baltimore, Maryland

 AGENDA*

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

*Speakers and Sessions Subject to Change

Program Committee
Co-Chairs:
Charlotte Cunningham-Rundles, MD PhD-Mount Sinai School of Medicine
Kathleen Sullivan, MD PhD-Children’s Hospital of Philadelphia
Committee:
Francisco A. Bonilla, MD PhD-Children's Hospital Boston
Steven M. Holland, MD -NIAID, NIH
Luigi D. Notarangelo, MD-Children's Hospital Boston, Harvard Medical School
Elena E. Perez, MD PhD -University of Miami School of Medicine
John M. Routes, MD-Medical College of Wisconsin
Ralph S. Shapiro, MD -Midwest Immunology Clinic
Troy R. Torgerson, MD PhD-University of Washington
Burcin Uygungil, MD MPH-Johns Hopkins
James Verbsky, MD PhD-Medical College of Wisconsin