by CheckRare Staff | Oct 16, 2024
WHIM syndrome is a rare, congenital primary immunodeficiency disorder associated with neutropenia that typically presents in childhood or adolescence, predominantly caused by pathogenic variants in the CXCR4 chemokine receptor gene.[1] The CXCR4 receptor is involved...
by CheckRare Staff | Oct 7, 2024
Rett syndrome is a multisystem disorder that primarily affects girls. Only in rare cases are boys affected (who may experience more severe symptoms). Multiple loss-of-function mutations to the MECP2 gene are the cause of Rett syndrome. It is a progressive,...
by CheckRare Staff | Oct 2, 2024
This learning page, featuring podcasts and expert interviews, focuses on Fabry disease overview, diagnosis, and personalized treatment plans. Fabry Disease Podcast Episodes June 8, 2024 Length: 25 min Fabry Disease Overview, Featuring William Burns, MD In...
by CheckRare Staff | Sep 27, 2024
Overview Tenosynovial giant cell tumor (TGCT) is a non-malignant tumor involving the joint synovium, bursae, and tendon sheath. These rare tumors are sometimes referred to as giant cell tumor of the tendon sheath (GCT-TS) and/or pigmented villonodular synovitis...
by CheckRare Staff | Aug 1, 2024
« Prev1 / 1Next »CTCL: Shortening the Diagnostic Journey and Starting Treatment Early (Full Interview)CTCL Overview (Chapter 1)Treatment Plans for CTCL (Chapter 2)CTCL: The Role of the Dermatologist in Caring for Patients (Chapter 3)Global Care...
