PIDTC Immune Matters - Episode 6 Patient Perspective BMT Survivor

PIDTC Immune Matters - Episode 6 Patient Perspective BMT Survivor

In this episode of Immune Matters, hosts Jack McDonnell and Elie Haddad speak with Dr. Simon Tabchi, a physician, transplant survivor, and advocate living with a history of Wiskott-Aldrich syndrome (WAS). Simon shares his childhood diagnosis, bone marrow transplant journey, and how surviving a rare primary immunodeficiency inspired his career in medicine and patient advocacy. The discussion explores the patient perspective of transplantation, including prolonged isolation, recovery, family impact, and the importance of early treatment. Simon also reflects on how newer options such as gene therapy are expanding hope for families facing WAS today. The episode concludes with a conversation about survivorship, mentorship, and the value of connecting newly diagnosed families with those who have already walked the path. Simon explains how advocacy can help patients navigate both treatment and life after transplant. Keywords: Wiskott-Aldrich syndrome, WAS, bone marrow transplant, stem cell transplant, gene therapy, primary immunodeficiency, patient advocacy, survivorship, rare disease, immune deficiency

PIDTC Immune Matters - Episode 5 Emapalumab

In this episode of Immune Matters, hosts Jack McDonnell and Elie Haddad speak with Dr. Joseph Oved, a pediatric hematologist-oncologist and transplant specialist at Columbia University, about the biologic therapy emapalumab (Gamifant). The discussion explores how this anti–interferon-gamma monoclonal antibody is used to treat hyperinflammatory conditions such as primary hemophagocytic lymphohistiocytosis (HLH) and macrophage activation syndrome. Dr. Oved explains the underlying immunology of interferon-gamma–driven inflammation and how targeted blockade of this pathway can interrupt the cycle of immune dysregulation. The conversation also examines emerging applications of emapalumab in hematopoietic stem cell transplantation, including its potential role in preventing graft rejection, managing hyperinflammation, and improving transplant outcomes in patients with inborn errors of immunity. The episode concludes with a discussion of ongoing research, the importance of precision medicine in immune dysregulation disorders, and new PIDTC initiatives that allow clinicians to collaborate on complex cases and share expertise across institutions. Note: for more information on how you can get the PIDTC's help with a complex case, please email Jessica.Ni@ucsf.edu or Lisa.Lim@ucsf.edu . Keywords: emapalumab, Gamifant, HLH, macrophage activation syndrome, interferon-gamma, hyperinflammation, hematopoietic stem cell transplant, graft rejection, inborn errors of immunity, PIDTC, immune dysregulation, biologics, precision medicine, clinical immunology

Immune Matters Episode 4, Rebecca and Dani, Chiron

In this episode of Immune Matters, hosts Jack and Elie discuss the Chiron platform with guests Dr. Rebecca Marsh and Dr. Dani Arnold. Chiron is a data interaction tool designed by the PIDTC for researchers in the field of immune deficiency. Dr. Marsh and Dr. Arnold explore Chiron's features and clinical applications, emphasizing its potential to enhance patient care and research outcomes. The conversation also touches on future developments and access to the platform for investigators. Keywords: immune deficiency, immune dysregulation, Chiron platform, PIDTC, patient experience, data interaction, clinical research, transplant outcomes, immune disorders, healthcare technology

Immune Matters Episode 3, Jen, SCID

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

Immune Matters Episode 2, Jen, Chronic Granulomatous Disease

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