by CheckRare Staff | Jul 30, 2023
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 | Jul 28, 2023
Jennifer Puck, Professor of Pediatrics at the University of California, San Francisco, and co-leader of Rare Diseases Clinical Research Network’s (RDCRN) Primary Immune Deficiency Treatment Consortium, and Monica Thakar, MD, Associate Professor at both Fred...
by CheckRare Staff | Jul 19, 2023
Richard Lafayette, MD, FACP, Director of the Stanford Glomerular Disease Center, and Rheumatologist at Stanford Health Care, describes the latest clinical trial assessing Nefecon (budesonide delayed-release capsules) for immunoglobulin A (IgA) nephropathy treatment....
by CheckRare Staff | Jul 17, 2023
Frank Rivera, a sarcoidosis patient, discusses his diagnostic journey, including a lung cancer misdiagnosis. Mr. Rivera is a member of Stronger that Sarcoidosis and Sarcoidosis of Long Island, two patient advocacy groups focused on raising awareness and research...
by CheckRare Staff | Jul 14, 2023
Tracy Dixon-Salazar, PhD, Executive Director of the Lennox-Gastaut Syndrome (LGS) Foundation, provides an overview of the disease, the disorder’s unique resistance to treatment, and what the foundation is doing to help this patient community. What Is...
