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The science and practice of human immunology

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Update in PID

Final Program

Thursday, April 25, 2013
JW Marriott Marquis
Miami, Florida

Preliminary Agenda

Organizers:
Troy Torgerson, MD, PhD
, University of Washington;
Steven M. Holland, MD, NIAID, NIH;
Charlotte Cunningham-Rundles, MD, PhD, Mt. Sinai School of Medicine;
Kathleen E. Sullivan, MD, PhD, Children's Hospital of Philadelphia
8:00am - 8:15pm GATA2 Deficiency: Extended Clinical Phenotype in 57 Patients
Michael A. Spinner
NIAID, NIH
8:15am - 9:00am GATA2
Steven M. Holland, MD
NIAID, NIH
9:00am - 9:45am HLH & Killing
Jordan S. Orange, MD, PhD
Baylor College of Medicine
9:45am - 10:00am A Novel 14 day Reduced Intensity Conditioning Alemtuzumab Schedule Reduces the Incidence of Mixed Chimerism Following Allogeneic Hematopoietic Cell Transplantation of Patients with Hemophagocytic Lymphohistiocytosis Disorders
Rebecca A. Marsh, MD
Cincinnati Children’s Hospital Medical Center
10:00am - 10:15am Morning Break
10:15am - 11:45am PI3 Kinase Inhibitor & BTK Inhibitor
10:15am – 10:45am CD19/P13K/BTK mediates TLR function in human B cells
Eric Meffre, PhD
Yale University
10:45am – 11:15am Joshua D. Milner, MD
NIAID, NIH
11:15am – 11:30am Identification of a PI-3K PIK3CD Deficient Individual
Michael B. Jordan, MD
Cincinnati Children’s Hospital Medical Center
11:30am – 11:45am Innate and Adaptive Defects of Uncharacterized Primary Immunodeficiencies Identified by Phospho-Mass Cytometry (CYTOF)
Manish J. Butte, MD, PhD
Stanford University
11:45am - 12:30pm Guided Poster Session
DOCK8 is Required for Actin Accumulation at the NK Cell Lytic Synape and NK Cell Cytotoxic Function
Melissa Mizesko, MD
Baylor College of Medicine

Clinical Spectrum and Outcome of Hematopoietic Cell Transplant for Patients with NEMO Defect: A Single Center Experience
Shanmuganathan Chandrakasan, MD
Cincinnati Children’s Hospital Medical Center

The Expanding Clinical Spectrum of ADA Includes Features of Metabolic Syndrome
Robert Sokolic, MD
National Human Genome Research Institute

Lupus Patient with Impaired Receptor Editing has Heterozygous RAG2 Mutation
Jolan Walter, MD, PhD
Massachusetts General Hospital for Children

Frequency of Lymphomas in a Cohort of Patients with Common Variable Immunodeficiency
Cristina M. Kokron, MD, PhD
University of São Paulo School of Medicine
12:30pm - 1:30pm Lunch/Poster Viewing/Exhibit Hall Open
1:30pm - 2:30pm Short Stories on How I Treat . . .
1:30pm - 1:50pm ALPS
David T. Teachey, MD
Children's Hospital of Philadelphia
1:50pm - 2:10pm Rituximab in CVID in Lung Disease
John M. Routes, MD
Medical College of Wisconsin
2:10pm - 2:30pm Cytopenias
James B. Bussel, MD
Weil Cornel Medial Center
2:30pm - 2:45pm Afternoon Break
2:45pm - 5:15pm Immune Reconstitution & Immunomodulation in PID & Autoimmunity
  Moderator:
Luigi Notarangelo, MD
Harvard Medical School

Speakers:
2:45pm - 3:15pm Inflammatory Complications
Charlotte Cunningham-Rundles, MD, PhD
Mt. Sinai Medical Center
3:15pm - 3:30pm New Perspectives in Phagocytes Immunodeficiency: Impairment in the Generation of Neutrophil Extracellular Traps
Paulo V. Soeiro-Pereira, MSc
University of São Paulo
3:30pm – 3:45pm Colitis-Predominant XIAP Deficiency with Clinical Response to TNF Alpha Inhibition
Amy E. O’Connell
Boston Children’s Hospital
3:45pm - 4:15pm Reconstitution of Humoral Immunity after Hematopoietic Cell Transplantation for SCID
Elie Haddad, MD, PhD
CHU Ste-Justine, University of Montreal
4:15pm – 4:30pm KRECs but not TRECs Identify Patients with Delayed-Onset Adenosine Deaminase Deficiency in Neonatal Screening
Carsten Speckmann
University Freiburg Medical Center
4:30pm – 4:45pm Response to Bacteriophage Φχ174 in Children with Partial DiGeorge Anomaly and in Children with Complete DiGeorge Anomaly after Cultured Postnatal Allogeneic Thymus Transplantation
M. Louise Markert, MD, PhD
Duke University Medical Center
4:45pm - 5:15pm Immunomodulatory Properties of Mesenchymal Stem Cells
Jan Nolta, PhD
University of California, Davis
5:15pm - 5:30pm Open Discussion