Hematopoietic Cell Transplantation in Patients With Primary Immune Regulatory Disorders (PIRD): A Primary Immune Deficiency Treatment Consortium (PIDTC) Survey.

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.

• Authors: Alice Y Chan, Jennifer W Leiding, Xuerong Liu, Brent R Logan, Lauri M Burroughs, Eric J Allenspach, Suzanne Skoda-Smith, Gulbu Uzel, Luigi D Notarangelo, Mary Slatter, Andrew R Gennery, Angela R Smith, Sung-Yun Pai, Michael B Jordan, Rebecca A Marsh, Morton J Cowan, Christopher C Dvorak, John A Craddock, Susan E Prockop, Shanmuganathan Chandrakasan, Neena Kapoor, Rebecca H Buckley, Suhag Parikh, Deepak Chellapandian, Benjamin R Oshrine, Jeffrey J Bednarski, Megan A Cooper, Shalini Shenoy, Blachy J Davila Saldana, Lisa R Forbes, Caridad Martinez, Elie Haddad, David C Shyr, Karin Chen, Kathleen E Sullivan, Jennifer Heimall, Nicola Wright, Monica Bhatia, Geoffrey D E Cuvelier, Frederick D Goldman, Isabelle Meyts, Holly K Miller, Markus G Seidel, Mark T Vander Lugt, Rosa Bacchetta, Katja G Weinacht, Jeffrey R Andolina, Emi Caywood, Hey Chong, Maria Teresa de la Morena, Victor M Aquino, Evan Shereck, Jolan E Walter, Morna J Dorsey, Christine M Seroogy, Linda M Griffith, Donald B Kohn, Jennifer M Puck, Michael A Pulsipher, Troy R Torgerson
• Journal: Frontiers in immunology (Front Immunol) Vol. 11 Pg. 239 ( 2020) ISSN: 1664-3224 [Electronic] Switzerland
• PMID: 32153572 (Publication Type: Journal Article, Research Support, N.I.H., Extramural, Research Support, N.I.H., Intramural, Research Support, Non-U.S. Gov't, Research Support, U.S. Gov't, Non-P.H.S., Research Support, U.S. Gov't, P.H.S.)
• Copyright: Copyright © 2020 Chan, Leiding, Liu, Logan, Burroughs, Allenspach, Skoda-Smith, Uzel, Notarangelo, Slatter, Gennery, Smith, Pai, Jordan, Marsh, Cowan, Dvorak, Craddock, Prockop, Chandrakasan, Kapoor, Buckley, Parikh, Chellapandian, Oshrine, Bednarski, Cooper, Shenoy, Davila Saldana, Forbes, Martinez, Haddad, Shyr, Chen, Sullivan, Heimall, Wright, Bhatia, Cuvelier, Goldman, Meyts, Miller, Seidel, Vander Lugt, Bacchetta, Weinacht, Andolina, Caywood, Chong, de la Morena, Aquino, Shereck, Walter, Dorsey, Seroogy, Griffith, Kohn, Puck, Pulsipher and Torgerson.

Topics

• Adolescent
• Adult
• Animals
• Child
• Child, Preschool
• Hematopoietic Stem Cell Transplantation
• Humans
• Infant
• Middle Aged
• Primary Immunodeficiency Diseases (therapy)
• Surveys and Questionnaires
• T-Lymphocytes, Regulatory (immunology)
• Treatment Outcome
• Young Adult