In transitional care for patients with primary immunodeficiency diseases (PID) within inborn errors of immunity (IEI), the adult specialty responsible for accepting patients differs depending on the underlying pathology. In general, rheumatology departments, which manage immune dysregulation and infectious diseases, most commonly assume responsibility. However, pulmonology departments often manage patients with recurrent respiratory infections, while hematology departments frequently take care of patients with hematologic abnormalities or those who have undergone hematopoietic stem cell transplantation. In some institutions, infectious disease or general internal medicine departments are responsible for their care, although identifying an appropriate adult department for transition can sometimes be challenging.
At Institute of Science Tokyo Hospital, the departments of pediatrics and rheumatology have long collaborated closely in both outpatient and inpatient settings to manage patients with rheumatic diseases and IEI. Since 2020, a transitional care clinic has been established in our department, and we have actively accepted not only patients with rheumatic diseases but also those with IEI.
Many patients with PID have an uncomplicated clinical course with appropriate infection control and continued immunoglobulin replacement therapy. However, autoimmune and inflammatory complications are not uncommon, and the use of immunosuppressive therapy increases the risk of opportunistic infections. In both IEI and rheumatic disease patients, treatment is continued with modifications or additions of medications according to the patient’s life stage.
Genetic testing plays a key role in the diagnosis of IEI, and in recent years, the number of patients diagnosed in adulthood has increased. In our institution, diagnostic evaluation is conducted in collaboration with the departments of pediatrics and clinical genetics. In this symposium, we will present the current status and challenges of transitional care for patients with IEI, as well as our institutional experience.
