Document text
Principal Investigator: Jennifer M. Puck
Organization: UNIVERSITY OF CALIFORNIA, SAN FRANCISCO
Fiscal Year: 2024
Award: $20,000
Funding agency: National Institute of Allergy and Infectious Diseases
Project Summary
Primary immune deficiencies (PIDs) are a group of over 480 rare disorders of the immune system that
result in increased susceptibility to infections, autoimmunity, and malignancies. The most severe forms of PIDs
are fatal unless immune reconstitution is achieved by hematopoietic cell transplantation (HCT) or gene
therapy. In 2009, the Primary Immune Deficiency Treatment Consortium (PIDTC) was established to conduct
retrospective and prospective studies of risk factors, long term outcomes and late effects in individuals with
severe combined immunodeficiency (SCID), Wiskott-Aldrich syndrome (WAS), and chronic granulomatous
disease (CGD); with the 2019 funding cycle a protocol to study primary immune regulatory disorders (PIRD)
was added. Because individual PIDs are rare, multicenter collaborations are needed to systematically collect
detailed data to study outcomes and to develop clinical trials to determine the best interventions.
Annual Workshops, starting in 2011, and continuously funded by R13 awards from NIAID, have brought
together participating investigators from the PIDTC sites, now comprising 47 academic centers across the US
and Canada. These Workshops and Education Days, the latter added in 2016 to encourage and train a
diverse group of new experts, fosters interaction between physicians, basic scientists, patient advocates, and
engage trainees who then become leaders. This application requests continuation of R13 support for PIDTC
Workshops for the coming 3 years. The proposed 13th PIDTC Scientific Workshop and Education Day in
Cincinnati, Ohio (PIDTC2023) will be themed “New Treatments for Primary Immune Disorders.” We will offer
topics including cellular therapies for infections, graft vs. host disease, gene therapy, and development of
clinical trials. Plans for the two following workshops in 2023 and 2024 are described.
The specific objectives are:
1. Collect, analyze and disseminate information on survival, clinical status, and immune function in patients
with PIDs who have received HCT or other forms of treatment.
2. Establish biological markers to predict successful immune reconstitution following treatments.
3. Evaluate novel approaches to treatment for PIDs that minimize HCT-related toxicity while fostering robust
and durable engraftment and immune reconstitution.
4. Develop optimal treatment protocols for infants with SCID identified by newborn screening.
5. Develop clinical trials to define best practices for treatment of PIDs.
6. Encourage trainees to become the next generation of PID experts.
7. Recruit and train underrepresented minority physicians to the field of PID.
8. Increase synergy between scientists, physicians, and patient advocates from diverse backgrounds to
improve PID awareness and public education.
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