Research on Science and Technology Described by Researchers at Shanghai Public Health Clinical Center (Adult-onset Mendelian Susceptibility to Mycobacterial Diseases: A case report and systematic literature review).

A recent study conducted at the Shanghai Public Health Clinical Center in China focused on adult-onset Mendelian Susceptibility to Mycobacterial Disease (MSMD). The study examined the case of a 27-year-old man who developed the disease at 18 years old and found that he had a TYK2 mutation. The researchers also reviewed previous cases of adult-onset MSMD and identified 12 cases in total. The study found that the average age of disease onset was 29.4 years and the average delay in diagnosis was 2.5 years. Common symptoms included lymphadenopathy, weight loss, bone/joint pain, fever, and gastrointestinal symptoms. The study concluded that adult-onset MSMD can be difficult to recognize, leading to delayed diagnosis, but antibiotics and IFN-g can be effective treatments. The researchers recommend considering MSMD in adult patients with recurrent and refractory mycobacterial infections, particularly in lymph nodes, bone/joints, and skin. [Extracted from the article]