Immune Matters: a PIDTC Podcast

In this episode of Immune Matters, Dr. Jack McDonnell and Dr. Elie Haddad welcome Dr. Jen Heimall, an expert in severe combined immune deficiency (SCID). They discuss the complexities of SCID, including its diagnosis, management, and the importance of newborn screening. Dr. Heimall shares insights from her research on treatment outcomes and the significance of collaboration in SCID care. The conversation also touches on the challenges faced by patients and families, the evolving landscape of gene therapy, and the urgent questions that remain in the field of immunology. Keywords SCID, immune deficiency, pediatric immunology, bone marrow transplant, gene therapy, patient experience, newborn screening, PIDTC, immunology research, immune system

In this episode, Dr. Jennifer Leiding, a pediatric clinical immunologist, discusses Chronic Granulomatous Disease (CGD) with Jack and Elie. CGD is an inherited immune deficiency that leads to severe infections and autoimmunity. She explains the dual nature of immune deficiency and autoimmunity in CGD patients, the role of transplantation as a treatment option, and the expectations for families receiving a CGD diagnosis. Dr. Leiding also shares insights from her research on CGD, the complexities surrounding the concept of a cure, and the emotional burden faced by families. The conversation touches on the potential of gene therapy as an experimental treatment and highlights the often-overlooked symptoms experienced by carrier mothers of X-linked CGD. Overall, the episode provides a comprehensive overview of CGD, its challenges, and the ongoing efforts to improve patient outcomes. The Primary Immune Deficiency Treatment Consortium (PIDTC) is a part of the Rare Diseases Clinical Research Network of the Office of Rare Diseases Research (ORDR), National Center for Advancing Translational Sciences (NCATS), National Institutes of Health (NIH). This work was supported by the Division of Allergy, Immunology and Transplantation, National Institute of Allergy and Infectious Diseases (DAIT, NIAID) and the ORDR under cooperative agreements U54-AI082973 and U54-NS064808 and grants R13-AI094943 and 1R24AI184316-01. The content and opinions expressed are solely the responsibility of the authors and do not represent the official policy or position of the NIAID, ORDR, NCATS, NIH, HRSA, or any other agency of the US Government. Keywords: Chronic Granulomatous Disease, CGD, immune deficiency, transplantation, gene therapy, pediatric immunology, autoimmune disease, PIDTC, patient care, immunology

In this episode of Immune Matters: a PIDTC Podcast, Dr. Jack McDonnell and Dr. Elie Haddad, along with guests Dr. Blachy Davila and Dr. Jessie Alexander, delve into Wiskott-Aldrich syndrome, a rare X-linked immunodeficiency affecting boys. They discuss the clinical manifestations, management strategies, and the importance of bone marrow transplantation as a definitive treatment. The conversation highlights a recent study analyzing transplant outcomes and conditioning regimens, emphasizing the need for timely intervention and collaboration in research to improve patient care. The Primary Immune Deficiency Treatment Consortium (PIDTC) is a part of the Rare Diseases Clinical Research Network of the Office of Rare Diseases Research (ORDR), National Center for Advancing Translational Sciences (NCATS), National Institutes of Health (NIH). This work was supported by the Division of Allergy, Immunology and Transplantation, National Institute of Allergy and Infectious Diseases (DAIT, NIAID) and the ORDR under cooperative agreements U54-AI082973 and U54-NS064808 and grants R13-AI094943 and 1R24AI184316-01. The content and opinions expressed are solely the responsibility of the authors and do not represent the official policy or position of the NIAID, ORDR, NCATS, NIH, HRSA, or any other agency of the US Government.