DADA2 Deficiency Professors and Supervisors

Pui Leeمشاهده پروفایل

استادیار

Boston Children's HospitalUnited States

Dr. Pui Lee is an Attending Physician in Rheumatology at Boston Children’s Hospital and Assistant Professor of Pediatrics at Harvard Medical School. His research focuses on autoinflammatory diseases, myeloid cell biology, and immunometabolism. Education: MD-PhD, University of Florida College of Medicine (2010) Internship, Boston Children's Hospital (2011) Residency, Boston Children's Hospital (2013) Fellowship, Boston Children's Hospital (2016) Dr. Lee's primary research investigates how immunometabolism regulates monocyte development and inflammation, with emphasis on macrophage activation syndrome (MAS) and deficiency of adenosine deaminase 2 (DADA2). His laboratory explores metabolic reprogramming in myeloid cells and immune activation mechanisms in cytokine storm syndromes. Current projects include studying monocyte differentiation pathways and vascular inflammation in DADA2. His 15 most recent publications (2023-2025) demonstrate expertise in pediatric rheumatology, with recurring themes in cytokine storm pathogenesis, monocyte/macrophage biology, and genetic autoinflammatory disorders. Key areas include MAS biomarkers, DADA2 mechanisms, and immunometabolic drivers of inflammation. Scientific Contributions: Developed screening algorithms for lung disease in systemic JIA Characterized IL-17 elevation as Kawasaki disease biomarker Defined SOCS1 haploinsufficiency as autoimmunity driver Elucidated DADA2 vascular pathology mechanisms Dr. Lee actively contributes to clinical guidelines including international consensus statements on DADA2 management. His research bridges basic immunometabolism with translational applications for pediatric inflammatory disorders, with focus on identifying novel treatment targets for refractory conditions.

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Carrie L Lucasمشاهده پروفایل

دانشیار

Yale UniversityUnited States

Carrie L Lucas is an Associate Professor of Immunobiology at Yale University School of Medicine. She holds primary tenure in the Department of Immunobiology and is affiliated with multiple research centers including the Yale Cancer Center, Yale Center for Genomic Health, Yale Center for Immuno-Oncology, and the Yale Center for Systems and Engineering Immunology (CSEI). Dr. Lucas received her PhD from Harvard University and completed her postdoctoral training at the National Institutes of Health, NIAID. Dr. Lucas's research focuses on discovering single-gene defects underlying severe immune disorders in humans. Her laboratory employs human genomics, in vitro studies with primary patient cells, and in vivo mouse modeling approaches to uncover fundamental immunological principles. Her specific research interests include hereditary autoinflammatory diseases, immunologic deficiency syndromes, immunoproliferative disorders, inflammation, signal transduction, and T-lymphocyte biology. Analysis of Dr. Lucas's recent publications reveals a strong emphasis on genetic immunodeficiencies, particularly those involving the PI3K pathway (including PI3Kγ and PI3Kδ), as well as studies on autoinflammatory conditions like ELF4 deficiency. Her work bridges basic science with clinical applications, exploring how genetic errors illuminate fundamental immune mechanisms and potential therapeutic targets. Her notable scientific awards include the Enders Faculty Fellow (2023), Christina Fleischmann Award to Young Women Investigators (2020), CRI CLIP Award (2019), Bohmfalk Scholar at Yale School of Medicine (2018), and the Charles Hood Foundation Child Health Research Award (2017). Dr. Lucas is actively involved in several research teams and clinical trials, including the Pediatric Genomics Discovery Program. Her work demonstrates significant collaboration across immunology, genetics, and clinical medicine, with frequent co-authorship with researchers from Yale's Immunobiology department, Human and Translational Immunology Program, and Yale Cancer Center.

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Kyawt Shwinمشاهده پروفایل

استادیار

University of Texas Southwestern Medical CenterUnited States

Systemic Vasculitis
Giant Cell Arteritis
Biopsy-Based Diagnosis of Rheumatic Diseases
+۳ مورد دیگر

Kyawt Shwin, M.D., is an Assistant Professor in the Department of Internal Medicine at the University of Texas Southwestern Medical Center, specializing in rheumatology. She is affiliated with the Division of Rheumatic Diseases and serves as a staff physician in the Rheumatology Section of the VA North Texas Health System. Her clinical expertise focuses on systemic vasculitis and giant cell arteritis. Originally from Myanmar, Dr. Shwin earned her medical degree (MBBS) from the Institute of Medicine 1 in Yangon. She completed her internal medicine residency at SUNY Downstate Medical Center and a rheumatology fellowship at the NIH's National Institute of Arthritis and Musculoskeletal and Skin Diseases. She is certified by the American Board of Internal Medicine in both internal medicine and rheumatology. Her research interests include biopsy-based diagnostic approaches for rheumatic diseases, cutaneous manifestations of these conditions, pathogenesis studies, and biomarker analysis. Her work has led to peer-reviewed publications and presentations at international conferences. At UT Southwestern, she actively teaches medical students, supervises clinical rotations, and contributes to Grand Rounds presentations. Dr. Shwin's research and clinical practice emphasize improving diagnostic accuracy and patient-centered care strategies, particularly for veterans with rheumatoid arthritis and gout. She has explored collaborative care models to better align treatment goals between patients and clinicians. Her investigations into genetic autoinflammatory disorders, such as DADA2 syndrome, have elucidated mechanisms involving adenosine metabolism and neutrophil activity. This work bridges basic science discoveries with clinical applications in rheumatology.

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Craig Plattمشاهده پروفایل

استادیار

Boston Children's HospitalUnited States

Craig Platt, MD, PhD, serves as an Assistant Professor of Pediatrics at Harvard Medical School and holds clinical appointments at Boston Children's Hospital. He is an Attending Physician in the Division of Immunology and Director of Flow Cytometry, with additional roles in the Precision Medicine Service. His clinical expertise spans allergic conditions, immunodeficiencies, and complex immune dysregulation disorders. PhD, Yale School of Medicine (2010) MD, Yale School of Medicine (2010) Residency, Boston Children's Hospital (2013) Fellowship in Allergy/Immunology, Boston Children's Hospital (2016) Dr. Platt's research focuses on immune dysregulation mechanisms, primary immunodeficiencies, and diagnostic applications of flow cytometry. His work integrates genetic analysis with clinical phenotyping to advance precision medicine for immunological disorders. Key interests include T/B lymphocyte profiling, newborn screening for immunodeficiencies, and biologic therapies for rare immune conditions. His laboratory develops novel immune phenotyping methods to characterize immune dysregulation in patients with genetic variants. Analysis of his recent publications reveals a strong emphasis on flow cytometry-based diagnostics (38% of articles), genetic mechanisms of immunodeficiency (29%), and clinical management of immune dysregulation (22%). Recurring themes include T-cell subset abnormalities, gene-disease curation frameworks, and SARS-CoV-2 interactions with immunodeficiencies. His work frequently bridges basic immunology with clinical applications through the Precision Medicine Service. As Director of Flow Cytometry, Dr. Platt leads a core facility supporting immunological diagnostics and research. His clinical service spans Boston Children's Hospital locations in Boston and Lexington, Massachusetts, where he manages complex cases including primary immunodeficiencies, severe allergies, and immune-mediated lung diseases. The Precision Medicine Service collaboration enables genomic analysis for difficult diagnostic cases, particularly those involving novel genetic variants.

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Ivona Aksentijevichمشاهده پروفایل

پژوهشگر

Helmholtz Centre for Infection ResearchGermany

Ivona Aksentijevich is a researcher at the National Institutes of Health (NIH) within the Human Genome Research Institute (NHGRI), managing the CLIA-certified lab in the Inflammatory Disease Section (IDS). Her work focuses on molecular diagnostics of monogenic immune diseases and genetic basis of autoinflammatory disorders. Education: Medical degree from University of Belgrade Certifications: Board-certified in Clinical Molecular Genetics Research Interests: Dr. Aksentijevich investigates the genetic mechanisms underlying autoinflammatory diseases, including ALPK1 mutations , ubiquitylation pathways , and DADA2 deficiency . Her work bridges molecular genetics with clinical immunology to identify novel disease-causing mutations and develop diagnostic tools. Editorial Contributions: She serves as Associate Editor for Frontiers in Immunology (Autoinflammatory Disorders) and Review Editor for Frontiers in Pediatrics (Pediatric Rheumatology), contributing to the advancement of research in monogenic immune diseases.

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