People with cold agglutinin disease (CAD) have significantly lower blood levels of C3 and C4 — two key molecules of the body’s innate complement immune system — than their healthy peers, a study found. Notably, CAD patients showed the lowest levels of C3 and C4 among autoimmune hemolytic…
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Diagnosed with sickle cell disease as a 6-month-old, Tristan Lee has faced a lot of challenges over his 37 years of life. But from a young age, he also learned how to turn those trials into triumphs. At age 9, a stroke due to his disease left him paralyzed…
Rare Disease Day at NIH, organized by the National Institutes of Health (NIH) and taking place on March 1, will feature panel discussions, patient stories, research updates, TED-style talks, and a presentation by a Nobel laureate recently recognized for her work on a gene editing tool. The free, virtual…
Modified red blood cell products may be better at counteracting anemia than red blood cell suspensions normally used in conventional blood transfusions, while posing fewer side effects to patients with autoimmune hemolytic anemia (AIHA), a review study has found. Yet, investigators noted that additional studies will be needed to…
People with rare disorders have a worse healthcare experience than those affected by chronic diseases, according to the results of an international survey conducted by Eurordis-Rare Diseases Europe. Indeed, rare disease patients overall give their healthcare experience a medium-low rating, of 2.5 on a scale of 1 to 5,…
A type of protein modification called glycosylation is associated with higher levels of disease-causing antibodies in cold agglutinin disease (CAD), new research suggests. The findings highlight the role that antibody modifications play in antibody-driven diseases like CAD, researchers said. The study, “In from the cold: M‐protein…
Scores of virtual events are afoot around the world to mark Rare Disease Day 2021 on Feb. 28. The activities are focused on heightening awareness about rare diseases and the hundreds of millions of individuals they are thought to affect. Patients, caregivers, and advocates worldwide will sport denim ribbons…
Researchers have reported a very rare case of cold agglutinin disease (CAD) associated with urothelial carcinoma, the most common type of bladder cancer, in an 86-year-old man. The acquired autoimmune disease has been associated with blood cancers, but cases of CAD secondary to solid tumors are rare. This case report…
While progress was made last year on newborn screening and other policy issues critical to rare disease patients, a “State Report Card” argues that many concerns — notably out-of-pocket costs for prescription medicines and access to affordable comprehensive care — still need attention. Those were the findings of the…
Cold agglutinin disease (CAD) seems to play a small part in the development of anemia among people who have enlarged spleens due to malaria infection, a study from Rwanda suggested. The study found a “minor role of cold agglutinin in anemia” among these patients.
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