Autoimmune Polyglandular Syndrome Type Research Articles

Clinical, Endocrinological and Immunological Characteristics of Japanese Patients With Autoimmune Polyglandular Syndrome Type 3a

Clinical, Endocrinological and Immunological Characteristics of Japanese Patients With Autoimmune Polyglandular Syndrome Type 3a

Clinical characteristics of Japanese patients with autoimmune polyglandular syndrome type 3a

Clinical characteristics of Japanese patients with autoimmune polyglandular syndrome type 3a

A Case of Autoimmune Polyglandular Syndrome Type 3 (APS Type 3) With Diabetic Ketoacidosis and Hyperthyroidism Accompanied With Early Disappearance of Disease-Specific Antibodies

A Case of Autoimmune Polyglandular Syndrome Type 3 (APS Type 3) With Diabetic Ketoacidosis and Hyperthyroidism Accompanied With Early Disappearance of Disease-Specific Antibodies

Skórne manifestacje w przebiegu autoimmunologicznego zespołu niedoczynnoœci wielogruczołowej typu 1 – opis przypadku i przegląd piśmiennictwa

Skórne manifestacje w przebiegu autoimmunologicznego zespołu niedoczynnoœci wielogruczołowej typu 1 – opis przypadku i przegląd piśmiennictwa

Hyponatremic rhabdomyolysis in Addison's disease in a child with autoimmune polyglandular syndrome type 2

Hyponatremic rhabdomyolysis in Addison's disease in a child with autoimmune polyglandular syndrome type 2

Diverse genetic aetiologies and clinical outcomes of paediatric hypoparathyroidism.

Hypoparathyroidism is characterized by hypocalcaemia, hyperphosphataemia, and low or inappropriately normal parathyroid hormone (PTH) levels. Idiopathic or genetic drivers are the predominant causes of hypoparathyroidism in paediatric-age patients. This study investigated the aetiology and clinical course of primary hypoparathyroidism in infancy and childhood. This study included 37 patients (23 males, 14 females) with primary hypoparathyroidism diagnosed prior to 18 years of age. We analysed aetiologies, initial presentation, age at diagnosis, endocrine and radiological findings, and outcomes. The median age at presentation was 1·7 months (range 1 day-17 years), and the mean follow-up duration was 7·0 ± 5·3 years (range 0·5-16·8 years). Our cohort included 22 cases (59·5%) of 22q11·2 microdeletion syndrome. Other aetiologies included hypoparathyroidism-deafness-renal dysplasia syndrome (5/37, 13·5%) and one patient each with autoimmune polyglandular syndrome type 1, Kearns-Sayre syndrome and Kenny-Caffey syndrome. The remaining 7 (18·9%) patients were classified as idiopathic hypoparathyroidism cases. Among the 15 patients who underwent brain imaging, 5 (33·3%) had basal ganglia calcification. Among the 26 patients examined by renal imaging, 5 (19·2%) had either nephrocalcinosis or a renal stone. After 11 months of calcium or calcitriol supplementation, 16 patients (43·2%) discontinued medication. The final PTH levels were significantly higher in patients with transient hypoparathyroidism than those with permanent hypoparathyroidism. Identification of the genetic aetiologies of hypoparathyroidism makes it possible to predict patient outcomes and provide appropriate genetic counselling. Long-term treatment with calcium and calcitriol necessitates monitoring for renal complications.

Case Report: Autoimmune Polyglandular Syndrome Type 2 Complicated by Acute Adrenal Crisis and Pericardial Tamponade in the Setting of Normal Thyroid Function.

We describe herein a 48-year-old Caucasian woman with a history of autoimmune polyglandular syndrome type 2 who presented with pericarditis, pericardial effusion, and pericardial tamponade preceded by acute adrenal crisis in the setting of normal thyroid function. The case highlights the importance of a rare yet important complication of autoimmune polyglandular syndrome type 2 that mandates early recognition and intervention.

Intracranial Calcifications in Autoimmune Polyendocrinopathy Candidiasis Ectodermal Dystrophy (APECED) Syndrome: A Case Report and Literature Review

Autoimmune polyendocrinopathy candidiasis ectodermal dystrophy (APECED [MIM 240300]), also known as autoimmune polyglandular syndrome type I (APS I), is a rare, debilitating autosomal recessive disease caused by mutations in the autoimmune regulator (AIRE) gene. The clinical spectrum of the disease is variable and includes several autoimmune endocrine and non-endocrine manifestations, which may lead to acute metabolic alterations and eventually life-threatening events. The clinical diagnosis requires the presence of two out of three major criteria; chronic mucocutaneous candidiasis, autoimmune hypoparathyroidism, and autoimmune adrenal failure. Brain calcifications secondary to hypoparathyroidism have been reported in many patients with APECED. These tend to be extensive, bilateral and symmetrical and have characteristic predilection to the basal ganglia. The calcifications may extend to affect the cerebellum and subcortical white matter. The aim of this work is to describe intracranial calcifications in APECED and to report a new feature of pontine calcification expanding the phenotype of this rare condition.

The new immunological methods for diagnostics of type 1 autoimmune polyendocrine syndrome

Type 1 autoimmune polyglandular syndrome (type 1APS) is a rare genetic disease resulting from mutations in the AIRE gene. Diagnostics of this pathology is based not only on the results of genetic studies but also on the measurement of the level of antibodies against type 1 interferons, such as interferon-ω and interferon-α2. The present review of the literature is focused on type 1 interferons, anti-interferon antibodies, and pathophysiological characteristics of the processes induced by these antibodies.

Severe hyponatremia in the course of autoimmune polyglandular syndrome type 2 of atypical clinical picture

Searchable abstracts of presentations at key conferences in endocrinology ISSN 1470-3947 (print) | ISSN 1479-6848 (online)

A case of polyglandular autoimmune syndrome type 1 with hypercalcaemia and hypotension

Searchable abstracts of presentations at key conferences in endocrinology ISSN 1470-3947 (print) | ISSN 1479-6848 (online)

Exquisite case of coeliac disease in elderly patient with polyglandular autoimmune syndrome type III; a case report

Exquisite case of coeliac disease in elderly patient with polyglandular autoimmune syndrome type III; a case report

Retinal degeneration in autoimmune polyglandular syndrome type 1: a case series

BackgroundAutoimmune polyglandular syndrome type 1 (APS1) is a rare autosomal recessive disorder due to mutations in the AIRE gene.AimTo report the ocular features and characterise the retinal phenotype in molecularly...

Genome wide identification of new genes and pathways in patients with both autoimmune thyroiditis and type 1 diabetes

Autoimmune thyroid diseases (AITD) and Type 1 diabetes (T1D) frequently occur in the same individual pointing to a strong shared genetic susceptibility. Indeed, the co-occurrence of T1D and AITD in the same individual is classified as a variant of the autoimmune polyglandular syndrome type 3 (designated APS3v). Our aim was to identify new genes and mechanisms causing the co-occurrence of T1D + AITD (APS3v) in the same individual using a genome-wide approach. For our discovery set we analyzed 346 Caucasian APS3v patients and 727 gender and ethnicity matched healthy controls. Genotyping was performed using the Illumina Human660W-Quad.v1. The replication set included 185 APS3v patients and 340 controls. Association analyses were performed using the PLINK program, and pathway analyses were performed using the MAGENTA software. We identified multiple signals within the HLA region and conditioning studies suggested that a few of them contributed independently to the strong association of the HLA locus with APS3v. Outside the HLA region, variants in GPR103, a gene not suggested by previous studies of APS3v, T1D, or AITD, showed genome-wide significance (p < 5 × 10−8). In addition, a locus on 1p13 containing the PTPN22 gene showed genome-wide significant associations. Pathway analysis demonstrated that cell cycle, B-cell development, CD40, and CTLA-4 signaling were the major pathways contributing to the pathogenesis of APS3v. These findings suggest that complex mechanisms involving T-cell and B-cell pathways are involved in the strong genetic association between AITD and T1D.

Clinical, Genetic and Immunological Characteristics of Paediatric Autoimmune Polyglandular Syndrome Type 1 Patients in Slovenia.

IntroductionAutoimmune polyglandular syndrome type 1 (APS-1) is an autosomal recessive disorder, caused by mutations in the AIRE gene. The major components of APS-1 are chronic mucocutaneous candidiasis (CMC), hypoparathyroidism (HP) and Addison’s disease (AD). Clinical, genetic and immunological characteristics of Slovenian paediatric APS-1 patients were investigated.MethodsExisting medical records of 15 APS-1 patients were rewieved, when necessary, additional clinical and laboratory investigations were issued. AIRE gene analysis was performed to identify causative mutations, and autoantibodies against type I interferons were measured by luminescence immunoprecipitation system.ResultsPatients had one to eight different manifestations of the disease. CMC was present in all, HP in 12/15 (80 %) and AD in 8/15 (53 %) patients. Growth retardation, due to hyposomatotropism, growth hormone resistance, autoimmune thyroiditis, corticosteroid treatment, malabsorption or secretory failure of exocrine pancreas, was observed in altogether 7 (46 %) patients. Six different AIRE gene mutations were detected and p.R257X mutation was present in 63.3 % of pathological alleles. Antibodies against type I interferons were detected in all patients.ConclusionAPS-1 is a rare disorder with a broad spectrum of clinical manifestations, which, if unrecognized or inadequately treated may be fatal. AIRE gene mutational analysis and autoantibodies against type I interferons are important in early identification of the disease. The aetiology of growth retardation was shown to be extremely diverse, frequently caused by less characteristic manifestations. APS-1 may affect patients’ quality of life in numerous ways, and may cause great psychosocial burden leading to depression and suicidal thoughts even in paediatric patients.

Recovery from alopecia areata in a patient with autoimmune polyglandular syndrome type 3.

SummaryRecovery from alopecia is rare in autoimmune polyglandular syndrome (APS). A 41-year-old male was admitted to our hospital with hyperglycemia. He developed alopecia areata (AA) 5 months before admission and developed thirst, polyuria, and anorexia in 2 weeks. His plasma glucose level upon admission was 912 mg/dl (50.63 mmol/l) and HbA1c was 13.7%. Although urinary and plasma C-peptide levels showed that insulin secretion was not depleted, anti-insulinoma-associated antigen 2 antibody was present. In addition, measurement of thyroid autoantibodies revealed the presence of Hashimoto's thyroiditis. These findings suggested a diagnosis of APS type 3. The patient has showed signs of improvement with the continuation of insulin therapy. During the successful control of diabetes, he had total hair regrowth within 2–3 months. Human leukocyte antigen typing showed that DRB1*1501-DQB1*0602 and DQB1*0301 were present. Similar cases should be accumulated to clarify the association of APS type 3 with recovery from AA.Learning points Alopecia in diabetic patients is a suspicious manifestation of autoimmune type 1 diabetes.Patients with autoimmune type 1 diabetes specifically manifesting alopecia should be further examined for diagnosis of APS.Insulin-mediated metabolic improvement may be a factor, but not the sole factor, determining a favorable outcome of alopecia in patients with autoimmune type 1 diabetes.

Autoimmune polyglandular syndrome type 1 and pregnancy: Clinical types

Autoimmune polyglandular syndrome type 1 and pregnancy: Clinical types

Highly raised serum lipid levels in a child with autoimmune polyglandular syndrome type III A: A novel experience

Autoimmune polyglandular syndrome (APS) type III A refers to the coexistence of autoimmune thyroiditis and immune-mediated diabetes mellitus. Although diabetic lipemias in APS type III have been described in medical literature, the degree of metabolic derangements in our patient, especially in the lipid profile is an extremely rare scenario. In this case report, we share this valuable experience.

Polyglandular Autoimmune Syndrome Type 2 Complicated by Multiple Organ Failure, Empty Sella Syndrome and Aplastic Anemia

Polyglandular autoimmune syndrome (PAS) is a group of syndromes comprised of glandular and extra-glandular disorders characterized by autoimmunity. A 57-year-old woman presented with acute progressive dyspnea and generalized weakness for several months. The patient was assessed to have acute congestive heart failure with cardiomyopathy, chronic renal failure with hyporeninemic hypoaldosteronism, and pancytopenia in addition to primary hypothyroidism and adrenal insufficiency. With the diagnosis of PAS type 2 complicated by multiple organ failure (MOF), medium-dose prednisolone (30 mg/d) was introduced primarily to control the activity of autoimmunity, which triggered MOF over the adrenal insufficiency. Levothyroxine (25 μg/d) was followed for replacement of the thyroid hormone deficiency. However, the symptoms and signs fluctuated, depending on the dosage of prednisolone, and progressively worsened by empty sella syndrome and aplastic anemia. Here, we report on a case of PAS type 2 with MOF and atypical complications, and suggest that recognition, assessment, and control of PAS as a systemic autoimmune disease may be essential. (J Rheum Dis 2015;22:111-117)

Short Communication FYB polymorphisms in Brazilian patients with type I diabetes mellitus and autoimmune polyglandular syndrome type III.

The aim of this study was to perform an association study between seven Fyn-binding protein gene (FYB)-tag single nucleotide polymorphisms (SNPs) and type I diabetes mellitus (T1DM), as well as with disease age of onset. We also assessed the role of FYB SNPs in the insurgence of autoimmune polyglandular syndrome type III (APSIII), characterized by the simultaneous presence of autoimmune thyroid disease and celiac disease, in patients with T1DM from a Northeastern Brazilian population. One hundred and seventy-seven patients with T1DM and 190 healthy individuals were genotyped for seven tag SNPs, covering most of the FYB locus, using real-time polymerase chain reaction amplification. There was no significant difference in the distribution of allele and genotype frequencies among patients and healthy individuals. Moreover, none of the tag SNPs were associated either to T1DM age of onset or to the insurgence of APSIII. However, since the FYB protein is a key component in T cell response, its gene variants might play a role in protein function, which might be testable in a population with different genetic backgrounds or by using functional assays.