// App-Quantinova.ai

: Biallelic Deleterious Germline SH2B3 Variants Cause a Novel Clinical Syndrome of Myeloproliferation and Multi-Organ Autoimmunity

Researchers

Presenter

  • Piers Blombery

Principal Investigators

  • Vahid Pazhakh

  • Adriana Albuquerque

  • Jesmeen Maimaris

  • Lingge Tu

  • Brenda Briones

  • Florence Evans

  • Ella Thompson

  • Ben Carpenter

  • Julie Curtin

  • Jonathan Lambert

  • Siobhan Burns

  • Graham John Lieschke

Medical Centers

  • Clinical Haematology, Peter MacCallum Cancer Centre/Royal Melbourne Hospital, Melbourne, Australia

  • Australian Regenerative Medicine Institute, Monash University, Melbourne, Australia

  • Institute of Immunity and Transplantation, University College London, London, United Kingdom

  • Department of Haematology, UCL Cancer Institute, University College London, London, United Kingdom

  • Department of Haematology, University College London Hospitals NHS Foundation Trust, London, United Kingdom

  • Department of Immunology, Royal Free London NHS Foundation Trust, London, United Kingdom

  • University of Melbourne, Melbourne, Australia

  • The Children's Hospital at Westmead, Sydney, Australia

Locations

  • Australia

  • United Kingdom

Companies

  • N/A

Study Components

Therapeutic Area

  • Gastroenterology (GU)

  • Autoimmune (AI)

  • Cardiovascular (CVS)

  • Oncology (ONC)

  • Endocrine/metabolic Diseases (ME)

Disease

  • Acute lymphoblastic leukemia

  • Myeloid neoplasms

  • Autoimmune Thyroid Disease

  • Autoimmune hepatitis

  • Raynaud syndrome

  • Hypothyroidism

  • Diabetes

Biomarkers

  • Granulocyte-macrophage-colony stimulating factor

  • Signal transducer and activator of transcription 3

  • Signal transducer and activator of transcription 5

  • Janus kinase

  • TIMP Metallopeptidase Inhibitor 1

Drug/Treatment

  • Ruxolitinib phosphate

  • GM-CSF

Outcome

  • N/A

Study Design

  • Adaptive

Phase

  • NA

Study Id's

  • N/A

Sponsors

  • N/A

Result

  • N/A

Copyright © 2026. QuantiNova All rights reserved