Active clinical trials for "Polyendocrinopathies, Autoimmune"

Background: Autoimmune polyendocrinopathy candidiasis ectodermal dystrophy (APECED) is a problem of the immune system. In people with APECED, the immune system makes a mistake and attacks the body. Some people with APECED have a type of hair loss called alopecia areata (AA). No drugs are approved to treat AA. Objective: To see if a study drug (ruxolitinib) can help hair regrowth in people with APECED-associated AA and if it can improve other symptoms caused by the immune system s attack to the body. Eligibility: People aged 12 to 65 years with APECED and severe AA. Design: Participants will be in this study for up to 10 months. They will have 5 in-person visits and 6 televisits, each about 4 weeks apart. One in-person visit may be up to a 10-day stay in the hospital. The first in-person visit will include screening. Participants will have a physical exam. They will have blood tests. Photographs may be taken of their skin. They will answer questions about their quality of life. Participants will begin taking the study drug during their hospital stay. They will take the pills by mouth twice a day for 8 months. Researchers may take tissue samples from participants scalp, gums, and lower lip. Participants may provide samples of urine, stool, nail clippings, and saliva. They may have an eye exam and an ultrasound exam of their abdomen. Some tests may be repeated in subsequent in-person visits. In telehealth visits, participants will answer questions about how they are feeling. They will describe and send photos of hair regrowth. They will be asked to have blood drawn and the results sent to the researchers.

The aim of INS.CORT trial is, by studying glycemic variability in a well-defined patient group with both insulin & hydrocortisone (patients with concomitant insulin-treated diabetes & Addison's disease) and collecting information about the administration -time point and doses- of insulin, hydrocortisone and food intake with the help of new technology to improve the treatment in all patients treated with both insulin & glucocorticoids.

Autoimmune polyendocrinopathy candidiasis ectodermal dystrophy (APECED) is an autosomal recessive disease caused by mutations in the autoimmune regulator (AIRE) gene, characterized by the clinical triad of chronic mucocutaneous candidiasis (CMC), hypoparathyroidism, and adrenal insufficiency. CMC can be complicated by systemic candidiasis or oral squamous cell carcinomas (SCCs) and may lead to death. The role of chronic Candida infection in the etiopathogenesis of oral SCC is unclear. Long term use of fluconazole lead to emergence of C. albicans strains with azoles decreased susceptibility. CMC is associated with an impaired Th17 cell response, however, it remains unclear whether decreased serum IL-17 and IL-22 levels are related to a defect in cytokine production or to neutralizing autoantibodies resulting from mutations in the AIRE gene

Autoimmune polyendocrine syndrome (APS) is an autoimmune disease involving at least two endocrine organ. It is classified into type I and type II diseases. Among them, APS type II is more common. It is diagnosed when two of the three following diseases are diagnosed in the same patient, including type 1 diabetes mellitus, autoimmune thyroid disease, and primary adrenal insufficiency. In this study, we will observe the epidemiology, clinical characteristics, and genetic variants of APS II in Taiwan.

Tyrosine hydroxylase autoantibodies impair sympathetic innervation leading to keratitis. In this study, the investigators have shown the significant association between severity of keratitis and presence of tyrosine hydroxylase autoantibodies.

This study plans to learn more about Down syndrome. The investigators think there is a different level of the AIRE gene in individuals with Down syndrome. The investigators think that the AIRE gene level can provide more insight about depressed immune cell function in individuals with Down syndrome. Patients are being asked to be in this research study because the investigators want to see if their blood contains more of less of the AIRE gene.

The objective of the study will define the mutational spectrum in this French cohort, in patients with APECED syndrome genetically authenticated