WHIM syndrome is a rare, congenital primary immunodeficiency disorder associated with severe neutropenia that affects all ages. However, due to the heterogeneous presentation of the disease, coupled with lack of awareness of the condition, the diagnosis may be delayed, sometimes even into adulthood.
Paul Orchard, MD from the University of Minnesota Medical School provides an overview of Mucopolysaccharidosis I in these CME and CNE courses. Dr. Orchard discusses the importance of newborn screening and genetic counseling, and the challenges of diagnosing and treating patients with MPS I.
Angelman syndrome is a rare genetic disorder affecting roughly 500,000 people worldwide. Patients with Angelman syndrome generally experience developmental delays, intellectual disabilities, extensive speech impairment, issues with movement and balance, epilepsy, and abnormal sleep-wake.
Cutaneous T-cell lymphoma (CTCL) belongs to the non-Hodgkin lymphoma class of hematologic T-cell lymphoproliferative disorders. It is a rare group of malignancies, with an incidence of 6.4 cases per 1 million people.
Timothy Craig, FAAAAI, FACP, FACOI from Penn State University highlights the latest information about HAE and provides expert analysis of its clinical relevance for busy members of the care team in order to help them care for patients with this rare disease.