期刊
FRONTIERS IN IMMUNOLOGY
卷 11, 期 -, 页码 -出版社
FRONTIERS MEDIA SA
DOI: 10.3389/fimmu.2020.00239
关键词
primary immune deficiencies; autoimmunity; immune dysregulation; hematopoietic cell transplant; genetics
类别
资金
- Division of Allergy, Immunology and Transplantation, National Institute of Allergy and Infectious Diseases (NIAID)
- Office of Rare Diseases Research (ORDR), National Center for Advancing Translational Sciences (NCATS), National Institutes of Health (NIH), Bethesda, MD
- Public Health Service grant/cooperative agreements [U54-AI082973, U54-NS064808, U01-TR001263, R13-AI094943]
- Division of Intramural Research, NIAID, NIH
- PBMTC Operations Center by the St. Baldrick's Foundation
- National Heart, Lung and Blood Institute (NHLBI) [U10HL069254]
- NIH [U10HL069254]
- National Cancer Institute (NCI), NIH [U24-CA76518]
- NHLBI, NIH [U24-CA76518]
- NIAID, NIH [U24-CA76518]
- NHLBI [U01HL069294]
- NCI [U01HL069294]
- Health Resources and Services Administration (HRSA/DHHS) [HHSH250201200016C, HHSH234200637015C]
- Office of Naval Research [N00014-13-1-0039, N00014-14-1-0028]
- NATIONAL INSTITUTE OF ALLERGY AND INFECTIOUS DISEASES [ZIAAI001222] Funding Source: NIH RePORTER
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.
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