AUTHOR=Chan Alice Y. , Leiding Jennifer W. , Liu Xuerong , Logan Brent R. , Burroughs Lauri M. , Allenspach Eric J. , Skoda-Smith Suzanne , Uzel Gulbu , Notarangelo Luigi D. , Slatter Mary , Gennery Andrew R. , Smith Angela R. , Pai Sung-Yun , Jordan Michael B. , Marsh Rebecca A. , Cowan Morton J. , Dvorak Christopher C. , Craddock John A. , Prockop Susan E. , Chandrakasan Shanmuganathan , Kapoor Neena , Buckley Rebecca H. , Parikh Suhag , Chellapandian Deepak , Oshrine Benjamin R. , Bednarski Jeffrey J. , Cooper Megan A. , Shenoy Shalini , Davila Saldana Blachy J. , Forbes Lisa R. , Martinez Caridad , Haddad Elie , Shyr David C. , Chen Karin , Sullivan Kathleen E. , Heimall Jennifer , Wright Nicola , Bhatia Monica , Cuvelier Geoffrey D. E. , Goldman Frederick D. , Meyts Isabelle , Miller Holly K. , Seidel Markus G. , Vander Lugt Mark T. , Bacchetta Rosa , Weinacht Katja G. , Andolina Jeffrey R. , Caywood Emi , Chong Hey , de la Morena Maria Teresa , Aquino Victor M. , Shereck Evan , Walter Jolan E. , Dorsey Morna J. , Seroogy Christine M. , Griffith Linda M. , Kohn Donald B. , Puck Jennifer M. , Pulsipher Michael A. , Torgerson Troy R. TITLE=Hematopoietic Cell Transplantation in Patients With Primary Immune Regulatory Disorders (PIRD): A Primary Immune Deficiency Treatment Consortium (PIDTC) Survey JOURNAL=Frontiers in Immunology VOLUME=11 YEAR=2020 URL=https://www.frontiersin.org/journals/immunology/articles/10.3389/fimmu.2020.00239 DOI=10.3389/fimmu.2020.00239 ISSN=1664-3224 ABSTRACT=

Primary Immune Regulatory Disorders (PIRD) are an expanding group of diseases caused by gene defects in several different immune pathways, such as regulatory T cell function. Patients with PIRD develop clinical manifestations associated with diminished and exaggerated immune responses. Management of these patients is complicated; oftentimes immunosuppressive therapies are insufficient, and patients may require hematopoietic cell transplant (HCT) for treatment. Analysis of HCT data in PIRD patients have previously focused on a single gene defect. This study surveyed transplanted patients with a phenotypic clinical picture consistent with PIRD treated in 33 Primary Immune Deficiency Treatment Consortium centers and European centers. Our data showed that PIRD patients often had immunodeficient and autoimmune features affecting multiple organ systems. Transplantation resulted in resolution of disease manifestations in more than half of the patients with an overall 5-years survival of 67%. This study, the first to encompass disorders across the PIRD spectrum, highlights the need for further research in PIRD management.