Primary Immune Deficiency Diseases Consortium Conference
June 1, 2006
San Francisco, California

Thursday June 1, 2006
7:00 - 7:30 AM Presenters load presentations and posters hung in the poster hall
(Salons 1-3 load presentations and Salons 4-6 hang posters)
7:30 - 8:30 AM Breakfast and Registration
8:30 - 9:30 AM Presentations (Salons 1-3) - Common Variable Immune Deficiency

Adina Kay Knight, MD:
CVID

Sigune Goldacker, MD:
Vaccinations in Patients with CVID

Ellen Renner, MD:
Primary Antibody Deficiency Disorders

Christopher Fraser, MD:
Hematopoietic Cell Transplantation (HCT) for CVID

9:30 - 10:30 AM Presentations - Innate Immunity and Infection

Isabella Quinti, MD PhD:
CpG Stimulation Predicts the Susceptibility to Encapsulated Bacterial Infections in CVID Patients

Stuart Turvey, MD PhD:
Use of a Novel Toll-like Receptor Signalling Assay to Study of the Prevalence of Toll-like Receptor
Signalling Defects in Apparently Healthy Children Who Developed Invasive Pneumococcal Infection.

David La Rosa, MD:
Functional NK Cell Deficiency with Preponderance of the CD56 Bright Subset

Dewton De Moraes Vasconcelos, MD PhD:
What We Have Learned About the Susceptibility to Disseminated Infections by Intracellular Pathogens: Are Primary Defects of the IL-12 / IFN~y Axis Rare?

10:30 - 11:00 AM Break (Salons 4-6)
11:00 AM - 12:00 PM Presentations - SCID

Raz Somech, MD:
A Novel Syndrome of Severe Immunodeficiency, Gonadal Dysgenesis and Cardiac Defect

Sonal Patel, MD:
B-Cell Reconstruction with Cord Blood but not with Bone Marrow Transplantation in two Siblings with X-Linked SCID

Javier Chinen, MD PhD:
Immunologic Improvement after Gene Therapy in 3 Preadolescents with X-Linked Severe Combined Immunodeficiency (XSCID)

Charles Haines:
Analysis of IL-7 Receptor Mutations in T-B+ SCID Patients

12:00 - 12:30 PM Keynote Presentation
Jennifer Puck, MD
12:30 - 1:30 PM Lunch (Salons 4-6)
1:30 - 2:30 PM Presentations - Outreach and Syndromes

Anete Sevciovic Grumach, MD PhD:
Lessons from PID Screening in 417 Patients Hospitalized for Infectious Diseases: The Rationale for their Identification

Antonio Condino, MD PhD:
Strategies for Increasing the Recognition of Primary Immunodeficiencies in a Developing Country

Daniel Bailey, PhD:
Autoimmunity and Impaired T- Cell Apoptosis in WASp Deficiency

Kohsuke Imai, MD PhD:
Analysis of 85 Hyper-IGM Syndrome Patients in Japan

2:30 - 3:30 PM Presentations - Syndromes and Outcomes

Ivan Chinn, MD:
Peritransplantation Immunosuppression in Atypical Complete DiGeorge Syndrome

Elizabeth A. McCarthy, RN, MSN:
Liver and Skin Involvement in a Patient with Aypical Complete DiGeorge Syndrome

Oner Ozdemir, MD:
13 Base Pair AIRE Gene Deletion in a Patient with APECED-Type 1

Elena E. Perez, MD PhD:
Monosomy 1p36 Associated with Immune Deficiency and Decreased Expression of OX40

3:30 - 4:00 PM Break (Salons 4-6)
4:00 - 5:00 PM Presentations - Update on IPEX

Troy Torgerson, MD PhD:
Functional Analysis of FOXP3 Mutations Identified in Patients with IPEX

Rosa Bacchetta, MD:
The Italian Study Group of IPEX: Genotype-Phenotype Correlation, Pathogenic Mechanisms and Therapeutic Options

Eleonora Gambineri, MD:
Molecular Analysis of FOXP3 Regulatory Regions in IPEX Syndrome

5:00 - 5:30 PM Keynote Presentation

Jason Cyster, MD
Regulation of Autoreactive B Cell Fate in the Periphery

5:30 - 7:00 PM Wine & Cheese Reception and Poster Viewing (Salons 4-6)

Click here to view the poster abstracts