What does Polyglandular mean?

What does Polyglandular mean?

Autoimmune polyglandular syndrome type 1 (APS-1) is a rare and complex recessively inherited disorder of immune-cell dysfunction with multiple autoimmunities. It presents as a group of symptoms including potentially life-threatening endocrine gland and gastrointestinal dysfunctions.

What causes APECED?

APECED syndrome is caused by mutations in the gene AIRE. AIRE provides instructions for making a protein called the autoimmune regulator (AIRE), which helps control when other genes get “turned on,” or expressed. The AIRE protein is expressed in the thymus, a key immune organ located behind the breastbone.

How common is IPEX?

IPEX syndrome is a rare disorder that affects an estimated 1 in 1.6 million people.

What is Schmidt’s disease?

Abstract. Abstract. Schmidt’s syndrome or autoimmune polyglandurar syndrome type 2 represents an uncommon endocrine disorder composed by Addison’s disease with autoimmune thyroid disease and/or type 1 diabetes mellitus. The syndrome usually affects women in the fourth decade of their lives.

What is mucocutaneous infection?

Mucocutaneous candidiasis is a superficial infection of mucosal, nail or skin surfaces usually caused by the fungal pathogen Candida albicans. The morbidity of the disease includes significant pain, weight loss and secondary complications, including carcinoma and aneurysms.

How is IPEX diagnosed?

The diagnosis of IPEX syndrome is established in a male proband with the typical clinical findings and by the identification of a hemizygous pathogenic variant in FOXP3 by molecular genetic testing (see Table 1).

How is IPEX treated?

The method of choice in the treatment of IPEX syndrome is HSCT and immunosuppressive therapy. In children, it is very important to include supportive therapy for refractory diarrhea and replacement therapy in DMT1 and other endocrinopathies.

How common is Schmidt syndrome?

Schmidt’s syndrome is an uncommon disorder with an estimated prevalence of 1.4-2 per 100.000 [4]. It occurs most frequently between 30 and 40 years of age with predominance in female gender [1].

What is the Autoimmune Polyendocrinopathy Syndrome?

The autoimmune polyendocrinopathy syndrome was the first systemic (bodywide) autoimmune disease found due to a defect in a single gene. By “autoimmune” is meant that the immune system (which normally wards off foreign invaders of the body) turns and attacks tissues such as skin, joints, liver, lungs, etc.) of the body.

How common is immunodysregulation polyendocrinopathy enterology X-linked (IPEX) syndrome?

Fewer than 150 individuals have ever been diagnosed with immunodysregulation polyendocrinopathy enterology x-linked (IPEX) syndrome, but there may be many unreported cases. [1] Do you have updated information on this disease?

What are the endocrinopathies associated with hypothyroidism?

Multiple endocrinopathies are associated with hypothyroidism. 58 Hyperprolactinemia can occur in the setting of clinical hypothyroidism, probably because of the loss of negative feedback of thyroid hormone on thyrotropin-releasing hormone (TRH), which stimulates the secretion of TSH and prolactin from the anterior pituitary.

What is the prognosis of endocrinopathies?

Endocrinopathies often persist due to permanent cell damage (e.g., diabetes mellitus due to destruction of insulin-producing B cells). If untreated, most affected boys die at an early age. 261 APS1 (MIM # 240300) is caused by mutations in the autoimmune regulator gene ( AIRE MIM # 607358 ).