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.
Highlights
The traditional classification of Primary Immune Deficiency Disorders (PIDD) has consisted largely of patients who present with recurrent, severe, or unusual infections due to defects in immune effector mechanisms
To differentiate this group of disorders from traditional PIDD, we propose that they be called collectively, Primary Immune Regulatory Disorders or “PIRD.” An example prototypic PIRD is IPEX (Immune Dysregulation, Polyendocrinopathy, Enteropathy, and X-linked) syndrome since the principal clinical feature is autoimmune in nature, including autoimmune enteropathy, type I diabetes, autoimmune cytopenias, and immune-mediated dermatitis [2, 3]
The is the first study that has collectively reported on hematopoietic cell transplantation (HCT) for the expanding group of PIRD across a broad sample of treatment centers
Summary
The traditional classification of Primary Immune Deficiency Disorders (PIDD) has consisted largely of patients who present with recurrent, severe, or unusual infections due to defects in immune effector mechanisms. A growing proportion of the 344 gene defects associated with primary disorders of the immune system [1] do not have dominant features of infection; rather, the predominant presentation is with immune-mediated pathology including autoimmunity, autoinflammation, or non-malignant lymphoproliferation. To differentiate this group of disorders from traditional PIDD, we propose that they be called collectively, Primary Immune Regulatory Disorders or “PIRD.” An example prototypic PIRD is IPEX (Immune Dysregulation, Polyendocrinopathy, Enteropathy, and X-linked) syndrome since the principal clinical feature is autoimmune in nature, including autoimmune enteropathy, type I diabetes, autoimmune cytopenias, and immune-mediated dermatitis [2, 3]. Given the increasing recognition of PIRD cases, we surveyed transplant centers affiliated with the Primary Immune Deficiency Treatment Consortium (PIDTC) in the US and Canada as well as European centers to assemble data from PIRD patients with and without known genetic defects, who have undergone HCT at these sites
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