Primary immune deficiencies (PIDs) are rare, life-threatening inherited defects in the immune system. The focus of the PID Treatment Consortium (PIDTC) will be on three PIDs that can be cured with hematopoietic cell transplantation (HCT), enzyme replacement or gene therapy: severe combined immunodeficiency (SCID), Wiskott-Aldrich syndrome (WAS) and chronic granulomatous disease (CGD). The objectives of the consortium are to characterize the long term outcomes and late effects in children with SCID, WAS and CGD who undergo HCT;to define the critical factors and biologic markers that influence the outcomes of children with SCID, WAS and CGD following HCT;to design and implement prospective clinical trials that improve care for children with PID;to prove the feasibility of newborn screening for SCID;and to provide training to physician scientists in the understanding and treatment of PIDs. Project 1 is a prospective study of SCID infants to identify early biomarkers and other disease- or HCT-related factors that affect engraftment, early immune reconstitution and survival. Project 2 is a cross-sectional retrospective study of SCID, exploring patient- and HCT-related factors that affect long term survival, immune reconstitution, late effects and quality of life. Project 3 addresses early and long-term outcomes following HCT in WAS and CGD, evaluating the degree of engraftment on outcome and identifying which patients with CGD are most likely to benefit from HCT. The Pilot Project Program will start with a Pilot Study of newborn screening for SCID. It will determine the efficacy of a novel test using newborn blood spots for early detection of SCID among Navajo Indians, who have a high incidence of SCID. The PIDTC encompasses 14 major centers that care for the majority of SCID, WAS and CGD patients in North America, bringing together for the first time physician/scientists with broad expertise in genetics, molecular biology, immunology, HCT, gene therapy and medical management. Parent advocacy groups will participate in PIDTC operations and oversight, subject recruitment, and dissemination of information resulting from our studies. These studies will resolve critical questions concerning HCT for these disorders and form the basis for future prospective clinical trials.

Public Health Relevance

Primary immune deficiencies (PIDs) are rare, life-threatening inherited defects in the immune system. By forming this Consortium to compare different treatment approaches, improved survival and outcome should be afforded to future patients.

National Institute of Health (NIH)
National Institute of Allergy and Infectious Diseases (NIAID)
Specialized Center--Cooperative Agreements (U54)
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Special Emphasis Panel (ZRG1-HOP-Y (50))
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Griffith, Linda M
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University of California San Francisco
Schools of Medicine
San Francisco
United States
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Long-Boyle, Janel R; Savic, Rada; Yan, Shirley et al. (2015) Population pharmacokinetics of busulfan in pediatric and young adult patients undergoing hematopoietic cell transplant: a model-based dosing algorithm for personalized therapy and implementation into routine clinical use. Ther Drug Monit 37:236-45
Haddad, Elie; Allakhverdi, Zoulfia; Griffith, Linda M et al. (2014) Survey on retransplantation criteria for patients with severe combined immunodeficiency. J Allergy Clin Immunol 133:597-9
Shearer, William T; Dunn, Elizabeth; Notarangelo, Luigi D et al. (2014) Establishing diagnostic criteria for severe combined immunodeficiency disease (SCID), leaky SCID, and Omenn syndrome: the Primary Immune Deficiency Treatment Consortium experience. J Allergy Clin Immunol 133:1092-8
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Griffith, Linda M; Cowan, Morton J; Notarangelo, Luigi D et al. (2014) Primary Immune Deficiency Treatment Consortium (PIDTC) report. J Allergy Clin Immunol 133:335-47
Medical Advisory Committee of the Immune Deficiency Foundation; Shearer, William T; Fleisher, Thomas A et al. (2014) Recommendations for live viral and bacterial vaccines in immunodeficient patients and their close contacts. J Allergy Clin Immunol 133:961-6
Chinen, Javier; Notarangelo, Luigi D; Shearer, William T (2014) Advances in basic and clinical immunology in 2013. J Allergy Clin Immunol 133:967-76
Pai, Sung-Yun; Logan, Brent R; Griffith, Linda M et al. (2014) Transplantation outcomes for severe combined immunodeficiency, 2000-2009. N Engl J Med 371:434-46

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