1,372 results match your criteria Polyglandular Autoimmune Syndrome Type II


Autoimmune polyendocrine syndrome type 1: an Italian survey on 158 patients.

J Endocrinol Invest 2021 May 18. Epub 2021 May 18.

FIRS Laboratories RSR Ltd, Cardiff, UK.

Background: Autoimmune Polyglandular Syndrome type 1 (APS-1) is a rare recessive inherited disease, caused by AutoImmune Regulator (AIRE) gene mutations and characterized by three major manifestations: chronic mucocutaneous candidiasis (CMC), chronic hypoparathyroidism (CH) and Addison's disease (AD).

Methods: Autoimmune conditions and associated autoantibodies (Abs) were analyzed in 158 Italian patients (103 females and 55 males; F/M 1.9/1) at the onset and during a follow-up of 23. Read More

View Article and Full-Text PDF

Atypical presentation of autoimmune polyglandular syndrome type 1 in the fifth decade.

BMJ Case Rep 2021 Apr 26;14(4). Epub 2021 Apr 26.

Endocrinology, Sri Ramachandra University Medical College, Chennai, Tamil Nadu, India.

A 45-year-old woman presented to us with a short-term history of nausea, vomiting and giddiness. On arrival at our hospital, examination revealed postural hypotension. Fluid resuscitation with intravenous normal saline was commenced. Read More

View Article and Full-Text PDF

[The 488th case: chronic diarrhea and abnormal liver function].

Zhonghua Nei Ke Za Zhi 2021 May;60(5):492-496

Department of Gastroenterology, Peking Union Medical College Hospital, Peking Union Medical College, Chinese Academy of Medical Science, Beijing 100730, China.

A 56-year-old female was admitted to Department of Gastroenterology at Peking Union Medical College Hospital with diarrhea for seven months, and abnormal liver function for six months. She had a history of type 1 diabetes. The main clinical manifestations were recurrent fatty diarrhea and abnormal liver function, accompanied by abdominal and retroperitoneal lymphadenopathy, elevated CA19-9 and CEA. Read More

View Article and Full-Text PDF

Preexisting autoantibodies to type I IFNs underlie critical COVID-19 pneumonia in patients with APS-1.

J Exp Med 2021 07;218(7)

Pediatric Medicine Unit, University Hospital of Besançon, Besançon, France.

Patients with biallelic loss-of-function variants of AIRE suffer from autoimmune polyendocrine syndrome type-1 (APS-1) and produce a broad range of autoantibodies (auto-Abs), including circulating auto-Abs neutralizing most type I interferons (IFNs). These auto-Abs were recently reported to account for at least 10% of cases of life-threatening COVID-19 pneumonia in the general population. We report 22 APS-1 patients from 21 kindreds in seven countries, aged between 8 and 48 yr and infected with SARS-CoV-2 since February 2020. Read More

View Article and Full-Text PDF

Autoimmune Diseases in Patients with Premature Ovarian Insufficiency-Our Current State of Knowledge.

Int J Mol Sci 2021 Mar 5;22(5). Epub 2021 Mar 5.

Department of Gynecological Endocrinology, Poznan University of Medical Sciences, 60-535 Poznan, Poland.

Premature ovarian insufficiency (POI), previously known as premature ovarian failure or premature menopause, is defined as loss of ovarian function before the age of 40 years. The risk of POI before the age of 40 is 1%. Clinical symptoms develop as a result of estrogen deficiency and may include amenorrhea, oligomenorrhea, vasomotor instability (hot flushes, night sweats), sleep disturbances, vulvovaginal atrophy, altered urinary frequency, dyspareunia, low libido, and lack of energy. Read More

View Article and Full-Text PDF

[Clinical features and genetic analysis of a child with late-onset immune dysregulation, polyendocrinopathy, enteropathy, X-Linked syndrome].

Zhonghua Yi Xue Yi Chuan Xue Za Zhi 2021 Mar;38(3):255-259

Department of Digestion, Children's Hospital Affiliated to Zhengzhou University, Henan Provinicial Children's Hospital, Zhengzhou Children's Hospital, Zhengzhou, Henan 450053, China.

Objective: To report on the clinical features and result of genetic testing for a child featuring immune dysregulation, polyendocrinopathy, enteropathy, X-linked (IPEX) syndrome.

Methods: Clinical records, genetic testing, laboratory investigation and treatment of the child were summarized in addition with a comprehensive review of the literature.

Results: The 3-year-old boy was administered due to intractable diarrhea, recurrent infections, liver dysfunction and failure to thrive, though no diabetes or skin disorder was observed. Read More

View Article and Full-Text PDF

Autoimmune Addison's Disease as Part of the Autoimmune Polyglandular Syndrome Type 1: Historical Overview and Current Evidence.

Front Immunol 2021 26;12:606860. Epub 2021 Feb 26.

Section of Internal Medicine and Endocrinological and Metabolic Sciences, Department of Medicine, University of Perugia, Perugia, Italy.

The autoimmune polyglandular syndrome type 1 (APS1) is caused by pathogenic variants of the autoimmune regulator () gene, located in the chromosomal region 21q22.3. The related protein, AIRE, enhances thymic self-representation and immune self-tolerance by localization to chromatin and anchorage to multimolecular complexes involved in the initiation and post-initiation events of tissue-specific antigen-encoding gene transcription. Read More

View Article and Full-Text PDF
February 2021

Autoimmune Polyendocrinopathy-Candidiasis-Ectodermal Dystrophy in Two Siblings: Same Mutations but Very Different Phenotypes.

Genes (Basel) 2021 01 26;12(2). Epub 2021 Jan 26.

Pediatric Endocrinology Unit, Regina Margherita Children's Hospital, 10126 Turin, Italy.

Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED), caused by mutations in the gene, is mainly characterized by the triad of hypoparathyroidism, primary adrenocortical insufficiency and chronic mucocutaneous candidiasis, but can include many other manifestations, with no currently clear genotype-phenotype correlation. We present the clinical features of two siblings, a male and a female, with the same mutations in the gene associated with two very different phenotypes. Interestingly, the brother recently experienced COVID-19 infection with pneumonia, complicated by hypertension, hypokalemia and hypercalcemia. Read More

View Article and Full-Text PDF
January 2021

Typical and reverse Takotsubo syndromes as initial manifestations of consecutive Addisonian crises in a 38-year-old patient: the heart has its reasons!

BMJ Case Rep 2021 Jan 28;14(1). Epub 2021 Jan 28.

Division of Cardiology, Royal University Hospital, Saskatoon, Saskatchewan, Canada

We report an interesting case of a 38-year-old woman presenting with reverse Takotsubo syndrome (TTS) secondary to an Addisonian crisis, her second such episode. A few years prior, she had presented with typical TTS in the setting of Addisonian crisis; diagnostic work-up revealing Auto-Immune Polyglandular Syndrome Type II (APS II). We believe this to be the first case report of typical and variant phenotypes of TTS in a patient with APS II. Read More

View Article and Full-Text PDF
January 2021

Aberrant type 1 immunity drives susceptibility to mucosal fungal infections.

Science 2021 01;371(6526)

Lundquist Institute for Biomedical Innovation at Harbor-UCLA Medical Center, Torrance, CA, USA.

Human monogenic disorders have revealed the critical contribution of type 17 responses in mucosal fungal surveillance. We unexpectedly found that in certain settings, enhanced type 1 immunity rather than defective type 17 responses can promote mucosal fungal infection susceptibility. Notably, in mice and humans with deficiency, an autoimmune disease characterized by selective susceptibility to mucosal but not systemic fungal infection, mucosal type 17 responses are intact while type 1 responses are exacerbated. Read More

View Article and Full-Text PDF
January 2021

Neurotrophic keratitis in autoimmune polyglandular syndrome type 1: a case report.

BMC Ophthalmol 2021 Jan 7;21(1):17. Epub 2021 Jan 7.

Department of Ophthalmology, National Taiwan University Hospital, No. 7, Chung-Shan South Road, Taipei, Taiwan.

Background: Autoimmune polyglandular syndrome type 1 (APS-1) is a rare autosomal recessive disease. In patients with APS-1, the most frequently reported ocular manifestations are keratoconjunctivitis with dry eye and retinal degeneration. However, to our knowledge, no research studies have reported the relationship between APS-1 and neurotrophic keratitis (NK). Read More

View Article and Full-Text PDF
January 2021

Reversible acral and mucosal hyperpigmentation in a patient with B12 deficiency secondary to polyglandular autoimmune syndrome type II.

SAGE Open Med Case Rep 2020 14;8:2050313X20979207. Epub 2020 Dec 14.

Division of Dermatology, Harbor-UCLA Medical Center, Torrance, CA, USA.

Reversible cutaneous hyperpigmentation often occurs in the setting of nutritional deficiencies and protein energy malnourishment, with atypical presentations arising from autoimmune disease. Here, we present a 52-year-old female with hypertension, type 1 diabetes, and Hashimoto's thyroiditis, under the diagnosis of polyglandular autoimmune syndrome type II, referred for evaluation of asymptomatic hyperpigmentation of the palms, soles, hard palate, and tongue for 6 months. The patient underwent a significant work-up, including esophagogastroduodenoscopy, which revealed hypertrophic gastropathy as well as evidence of acquired B12 deficiency secondary to pernicious anemia. Read More

View Article and Full-Text PDF
December 2020

[The prevalence of newly diagnosed autoimmune diseases among patients with Graves' disease and autoimmune polyglandular syndrome of adults].

Ter Arkh 2020 Nov 24;92(10):9-14. Epub 2020 Nov 24.

Endocrinology Research Centre.

Gravess disease is a common part of Autoimmune polyglandular syndrome (APS) and among thyroid autoimmune disorders is usually preceded the onset of the syndrome.

Aim: The aim of this study was to determine the frequency of occurrence of APS type 2, 3 among patients with Graves disease.

Materials And Methods: Sera of 94 patients with Gravess disease, 116 patients with APS 24 types and 80 healthy subjects were screened for 21-OH Ab, insulin-Ab (IAA), Islet Cell-Ab (ICA), glutamic acid decarboxylase-Ab (GADA), protein tyrosine phosphatase-Ab (IA2), Zinc Transporter 8-Ab (ZnT8), Anti-gliadin-Ab (IgA+IgG) (AGA), Anti-transglutaminase-Ab (IgA+IgG) (Anti-tTG), Anti-parietal cell-Ab (APCA), Intrinsic Factor-Ab (IF), Rheumatoid factor (RF), Anti Ovarian Antibodies (AOA). Read More

View Article and Full-Text PDF
November 2020

Co-Occurrence of Systemic Lupus Erythematosus and Autoimmune Polyendocrine Syndrome II: Is There a Pathologic Link?

Cureus 2020 Oct 26;12(10):e11187. Epub 2020 Oct 26.

Medicine, Nazareth Hospital - Trinity Health Mid-Atlantic, Philadelphia, USA.

Autoimmune polyendocrine syndrome type II (APS II) is a rare endocrine disorder that involves the adrenal gland (Addison's disease), thyroid (autoimmune thyroiditis), pancreas (type 1 diabetes), and other non-endocrine organs. Herein, we report a case of a 58-year-old woman with a past medical history of systemic lupus erythematosus (SLE) and Addison's disease, who initially presented with nocturia, polyuria, abnormal sweating, fatigue, hair thinning, heat and cold intolerance, and progressive darkening of the skin for the last few months. After a thorough evaluation, she was diagnosed with autoimmune thyroiditis, and thus, she met the criteria for APS II. Read More

View Article and Full-Text PDF
October 2020

Primary Adrenal Insufficiency in Childhood: Data From a Large Nationwide Cohort.

J Clin Endocrinol Metab 2021 Mar;106(3):762-773

Pediatric Endocrinology Unit, Department of Translational Medical Sciences, University of Naples Federico II, Endo-ERN Center for Rare Endocrine Conditions, Naples, Italy.

Context: Primary adrenal insufficiency (PAI) is a rare and potentially life-threatening condition that is poorly characterized in children.

Objective: To describe causes, presentation, auxological outcome, frequency of adrenal crisis and mortality of a large cohort of children with PAI.

Patients And Methods: Data from 803 patients from 8 centers of Pediatric Endocrinology were retrospectively collected. Read More

View Article and Full-Text PDF

Autoimmune polyendocrine syndrome induced by immune checkpoint inhibitors: a systematic review.

Cancer Immunol Immunother 2021 Jun 16;70(6):1527-1540. Epub 2020 Nov 16.

State Key Laboratory of Bioactive Substrate and Function of Natural Medicine, Institute of Materia Medica, Chinese Academy of Medical Sciences and Peking Union Medical College, 1 Xian Nong Tan Street, Beijing, 100050, China.

Objective: To summarize the clinical characteristics and immunological and genetic features of patients who developed autoimmune polyendocrine syndrome type II (APS-2) after treatment with immune checkpoint inhibitors (ICIs).

Design And Methods: Several databases (MEDLINE/EMBASE/Cochrane) were searched for studies published between January 2000 and February 2020 involving patients with two or more endocrine disorders after ICI therapy.

Results: Our final review included 22 articles comprising 23 patients (median age 56 years; 65. Read More

View Article and Full-Text PDF

Pubertal development and premature ovarian insufficiency in patients with APECED.

Eur J Endocrinol 2020 Nov;183(5):513-520

Children's Hospital and Pediatric Research Center, University of Helsinki and Helsinki University Hospital, Helsinki, Finland.

Objective: To determine the natural course of pubertal development, growth during puberty, and development of POI in females with autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED), also called autoimmune polyendocrine syndrome type I.

Design: Longitudinal follow-up study.

Methods: A national cohort of females with APECED aged ≥12 years were followed during 1965-2018. Read More

View Article and Full-Text PDF
November 2020

A Case of Critical Lower-Limb Ischemia in a 29-Year-Old Man with Autoimmune Polyglandular Syndrome Type 1 (APS-1).

Am J Case Rep 2020 Oct 17;21:e924705. Epub 2020 Oct 17.

Department of Internal Medicine, Jordan University of Science and Technology, Irbid, Jordan.

BACKGROUND Autoimmune polyglandular syndrome type 1 (APS-1) is an extremely rare autoimmune disorder with an autosomal recessive inheritance pattern. Its manifestations present in chronological sequence of the components mucocutaneous candidiasis, Addison disease, and hypoparathyroidism. Vascular calcification is a very rare manifestation of the disease, and it may be severe, causing critical lower-limb ischemia and significant morbidity. Read More

View Article and Full-Text PDF
October 2020

A rare case of coexistence of autoimmune polyglandular syndrome type 3 with growth hormone deficiency and hyperthyroidism in a patient with pseudo-Turner's syndrome.

J Int Med Res 2020 Oct;48(10):300060520961684

Department of Emergency, the First Affiliated Hospital, College of Medicine, Zhejiang University, Hangzhou, Zhejiang, China.

Autoimmune polyglandular syndrome (APS) is a rare disease that is characterized by autoimmune reactions to multiple endocrine and non-endocrine organs, which can be divided into four main types. The principal manifestations of APS-3 are autoimmune thyroid disease and other autoimmune diseases, such as type 1 diabetes, atrophic gastritis, pernicious anemia, vitiligo, alopecia, and myasthenia gravis, but not Addison's disease or hypoparathyroidism. Here we report a case demonstrating the rare coexistence of growth hormone deficiency and hyperthyroidism with sexual dysgenesis, secondary amenorrhea, cardiomegaly, splenomegaly, hypoproteinemia, pleural effusion, seroperitoneum, pericardial effusion, anasarca, osteoporosis, vitamin D deficiency, iron-deficiency anemia, poor blood coagulation, leucocytopenia, peripheral neuropathy, hyperuricemia, ichthyosis, tinea cruris, and onychomycosis. Read More

View Article and Full-Text PDF
October 2020

ICPis-Induced Autoimmune Polyendocrine Syndrome Type 2: A Review of the Literature and a Protocol for Optimal Management.

J Clin Endocrinol Metab 2020 12;105(12)

Department of Endocrinology and Metabolism, The First Affiliated Hospital of Nanjing Medical University, Nanjing, China.

Context: Immune checkpoint inhibitors (ICPis) targeting cytotoxic T-lymphocyte antigen 4 (CTLA-4), programmed cell death protein 1 (PD-1), and its ligand (PD-L1) are now approved to treat a variety of cancers. However, ICPis therapy is associated with a risk of immune-related adverse events (irAEs). Autoimmune polyendocrine syndrome type 2 (APS-2) is a rare endocrine irAE. Read More

View Article and Full-Text PDF
December 2020

Isolated Intestine Transplantation for Autoimmune Enteropathy: A Case Report.

Transplant Proc 2020 Nov 24;52(9):2835-2838. Epub 2020 Aug 24.

Transplant Division, Department of Surgery, Indiana University School of Medicine, Indianapolis, IN, United States. Electronic address:

Autoimmune enteropathy is a rare disease characterized by chronic watery diarrhea, weight loss, and immune-mediated injury of the enterocolic mucosa. The clinicopathologic findings of this disease are variable, and timely diagnosis is challenging. It is usually managed medically. Read More

View Article and Full-Text PDF
November 2020

A Review of Autoimmune Enteropathy and Its Associated Syndromes.

Dig Dis Sci 2020 11 24;65(11):3079-3090. Epub 2020 Aug 24.

Department of Pediatric Gastroenterology, Hepatology, and Nutrition, Cleveland Clinic Foundation, 9500 Euclid Ave, Cleveland, OH, 44195, USA.

Autoimmune enteropathy is an extremely rare condition characterized by an abnormal intestinal immune response which typically manifests within the first 6 months of life as severe, intractable diarrhea that does not respond to dietary modification. Affected individuals frequently present with other signs of autoimmunity. The diagnosis is made based on a characteristic combination of clinical symptoms, laboratory studies, and histological features on small bowel biopsy. Read More

View Article and Full-Text PDF
November 2020

A man in his fifties with chronic diarrhoea and weight loss.

Tidsskr Nor Laegeforen 2020 08 14;140(11). Epub 2020 Aug 14.

Background: Watery diarrhoea coupled with weight loss is a serious condition with many potential causes. We present a possibly underappreciated cause which usually responds well to treatment; left untreated it may have a severe course.

Case Presentation: A man in his fifties with known coronary and cerebrovascular disease was admitted for watery diarrhoea. Read More

View Article and Full-Text PDF

A rare simultaneous manifestation of polyglandular autoimmune syndrome type II.

Endocrinol Diabetes Metab Case Rep 2020 Jul 29;2020. Epub 2020 Jul 29.

Endocrinology, Auckland District Health Board, Auckland, New Zealand.

Summary: Polyglandular autoimmune syndrome type II is a rare condition defined by the presence of autoimmune primary adrenal insufficiency along with autoimmune thyroid disease and/or type-I diabetes. Onset of these conditions will usually be separated by several years, though in rare instances it can occur simultaneously. This syndrome can also be associated with various non-endocrine autoimmune diseases, such as vitiligo and alopecia. Read More

View Article and Full-Text PDF

In vitro maturation of oocytes for preserving fertility in autoimmune premature ovarian insufficiency.

Fertil Steril 2020 10 22;114(4):848-853. Epub 2020 Jul 22.

Department of Reproductive Biology, Hôpital Jean Verdier, Assistance Publique, Hôpitaux de Paris, Paris, France.

Objective: To test whether in vitro maturation (IVM) of oocytes is an option for preserving the fertility of women diagnosed with premature ovarian insufficiency (POI).

Design: Case report.

Setting: University hospital. Read More

View Article and Full-Text PDF
October 2020

A novel variant in AIRE causing a rare, non‑classical autoimmune polyendocrine syndrome type 1.

Mol Med Rep 2020 Aug 12;22(2):1285-1294. Epub 2020 Jun 12.

Department of Endocrinology, National Health Commission Key Laboratory of Endocrinology, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing 100730, P.R. China.

Autoimmune polyendocrine syndrome type 1 (APS‑1) is a rare inherited autoimmune disease, characterized by a classic triad, including chronic mucocutaneous candidiasis, primary adrenocortical insufficiency and hypoparathyroidism. The present study investigated phenotypes and pathogenic variants in a Chinese woman with non‑classical APS‑1. Disease‑associated variants in a patient with APS‑1 were identified via targeted next generation sequencing and the variant was confirmed via Sanger sequencing. Read More

View Article and Full-Text PDF

Delay in Diagnosis of Two Siblings with Severe Ocular Problems and Autoimmune Polyglandular Syndrome.

Iran J Allergy Asthma Immunol 2020 Jun 23;19(3):313-317. Epub 2020 Jun 23.

Department of Allergy and Clinical Immunology, Children's Medical Center Hospital, Tehran University of Medical Sciences, Tehran, Iran AND Research Center for Immunodeficiencies, Tehran University of Medical Sciences, Tehran, Iran.

Autoimmune polyendocrine syndrome type 1 (APS1) is a scarce polyendocrinopathy with autosomal recessive inheritance results from defects in the human autoimmune regulatory (AIRE) gene. In addition to three major manifestations of APS1 including mucocutaneous candidiasis, hypoparathyroidism, and Addison's disease, ophthalmic problems such as keratoconjunctivitis, dry eye, iridocyclitis, and cataract can be seen in these patients. In this article, we introduced two siblings presented with nail dystrophia, severe photophobia, and keratitis since early childhood which genetic examination revealed single nucleotide T>C translocation in their 2nd exon and heterozygous deletion mutation in their 12th exon. Read More

View Article and Full-Text PDF

The altered circadian pattern of basal insulin requirements - an early marker of autoimmune polyendocrine syndromes in type 1 diabetes mellitus.

Endocr Regul 2020 Apr;54(2):126-132

1st Department of Psychiatry, Pavol Jozef Safarik University Faculty of Medicine, Kosice, Slovak Republic.

Objectives: The purpose of the present paper is to propose and introduce novel biomarkers of autoimmune polyendocrine syndromes that are relevant to the early diagnosis and optimal medical management of the patients who already suffer from type 1 diabetes mellitus.

Methods: We hypothesize and demonstrate on a case study that various organ-specific autoimmune endocrinopathies can result in lowered basal insulin requirements, leading to unexplained hypoglycemia.

Results: It can be hypothesized that hypothyroidism in patients with type 1 diabetes mellitus may deteriorate glycemic control and can lead to an increased rate of hypoglycemia, particularly the overnight and morning hypoglycemia. Read More

View Article and Full-Text PDF

Neuroendocrine Cells Are Commonly Absent in the Intestinal Crypts in Autoimmune Enteropathy.

Am J Surg Pathol 2020 08;44(8):1130-1136

Division of Anatomic Pathology, Mayo Clinic, Rochester, MN.

The absence of neuroendocrine (NE) cells in the intestinal mucosa in autoimmune enteropathy (AIE) has been occasionally reported. However, the status of NE cells has not been studied in detail in AIE. Small bowel and colonic biopsies were retrospectively retrieved from 18 AIE patients (26 baseline [18 small bowel and 8 colon]; and 15 follow-up [11 duodenum and 4 colon] biopsies in 11 patients). Read More

View Article and Full-Text PDF

A girl with lethargy and severe electrolyte imbalance.

Tidsskr Nor Laegeforen 2020 06 4;140(9). Epub 2020 Jun 4.

Background: Autoimmune polyendocrine syndrome type 1 (APS-1) is a rare autosomal recessive disorder characterised by a triad of mucocutaneous candidiasis, hypoparathyroidism and primary adrenal failure. It is caused by a mutation in the autoimmune regulator gene AIRE, involved in negative selection of self-reacting T-lymphocytes.

Case Presentation: A young girl had been lethargic for 10 weeks following an upper airway infection. Read More

View Article and Full-Text PDF