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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

J Diabetes Investig 2020 Jun 30. Epub 2020 Jun 30.

First Department of Internal Medicine, University of Occupational and Environmental Health, 1-1 Iseigaoka, Yahatanishi-ku, Kitakyushu, 807-8555, Japan.

Anti-N-methyl-D-aspartate receptor (NMDA-R) encephalitis is an autoimmune disorder in which autoantibodies in the limbic system bind to GluN1 subunits of NMDA-Rs in the brain. We report a rare case of autoimmune polyendocrine syndrome type 3 (APS-3) complicated by anti-NMDA-R encephalitis. After hospitalization for type 1 diabetes the 39-year-old patient developed various schizophreniform symptoms and seizures following cold-like symptoms. Read More

J Vis Exp 2020 May 29(159). Epub 2020 May 29.

Barbara Davis Center for Diabetes, University of Colorado School of Medicine;

Islet autoantibodies (IAbs) are widely used in type 1 diabetes (T1D) diagnosis and prediction. Four major IAbs to insulin (IAA), glutamate decarboxylase-65 (GADA), insulinoma antigen-2 (IA-2A), and zinc transporter-8 (ZnT8A) are equally important in disease prediction. Presently, up to 40% of patients diagnosed with T1D go on to develop other autoimmune disorders. Read More

Endocr J 2020 May 29. Epub 2020 May 29.

Department of Medicine (DIMED), Endocrinology Unit, Padua University, Padua, Italy.

Autoimmune Addison's disease (AAD) is a rare condition occurring either in isolation or associated with other autoimmune diseases as part of an autoimmune polyglandular syndrome (APS) type 1, 2 or 4. Multiple endocrine neoplasia (MEN) type 1, 2 or 4 is a hereditary autosomal dominant cancer syndrome. Medullary thyroid carcinoma and pheochromocytoma are neoplasms common to MEN-2a and MEN-2b. Read More

Intern Med 2020 May 26. Epub 2020 May 26.

Department of Neurology, Nagoya City University Graduate School of Medical Sciences, Japan.

This article describes the first reported case of myasthenia gravis (MG) seropositive for both acetylcholine receptor antibody and low-density lipoprotein receptor-related protein 4 antibody, complicated by autoimmune polyglandular syndrome (APS) type 3. The patient exhibited myasthenic weakness restricted to the ocular muscles and ptosis. Severe clinical deterioration ensued with predominant bulbar symptoms. Read More

Cureus 2020 Apr 21;12(4):e7772. Epub 2020 Apr 21.

General Medicine, Government Medical College and Hospital, Chandigarh, IND.

A 36-year-old female presented with lethargy, anorexia, nausea, hyperpigmentation, weight loss and amenorrhea for six months. On examination, she had hyperpigmentation of face, hands and oral mucosa. Investigations revealed adrenal insufficiency and subclinical hyperthyroidism with elevated anti-thyroid peroxidase antibodies. Read More

Georgian Med News 2020 Mar(300):101-105

1Medical University of Tyumen, Russian Federation.

Autoimmune Polyglandular Syndrome type 1 (APS-1) is a rare autoimmune disorder inherited in an autosomal recessive pattern. We present a clinical case of APS-1 in a 10-year-old child. The crux of this case was the lack of awareness to the disease and its complex flow, which resulted in complications during treatment. Read More

Medicine (Baltimore) 2020 May;99(18):e20000

Department of Endocrinology and Metabolism, The First Hospital of Jilin University, Changchun, China.

Rationale: Autoimmune polyendocrine syndrome type 1 (APS-1), also referred as the autoimmune polyendocrinopathy candidiasis-ectodermal dystrophy (APECED), is a rare autosomal inherited disease predominantly among Caucasians from Northern Europe. This syndrome is very rare in East Asian population.

Patients Concerns: Here, we describe a case of a 15-year-old Chinese boy admitted due to a 1-month history of intermittent fatigue, nausea, vomiting, and diarrhea. Read More

Postgrad Med J 2020 Apr 27. Epub 2020 Apr 27.

Norwich Medical School, University of East Anglia, Norwich, UK

President John F. Kennedy (JFK) had a complex medical history that is now thought to be an autoimmune polyglandular syndrome type 2 with Addison's disease and hypothyroidism. He also had gastrointestinal symptoms from adolescence, which now fit well with coeliac disease. Read More

BMC Endocr Disord 2020 Apr 7;20(1):47. Epub 2020 Apr 7.

The First Department of Medicine, Wakayama Medical University, 811-1, Kimiidera, Wakayama, Japan.

Background: Autoimmune polyglandular syndrome type 2 (APS-2) is a rare and complex clinical entity, and little is known about its etiology and progression.

Case Presentation: A 52-year-old woman with autoimmune hepatitis (AIH) and bronchial asthma was diagnosed with APS-2; autoimmune Addison's disease (AD), and Hashimoto's thyroiditis (HT), and she underwent prednisolone (PSL) treatment. Five months later, she presented ptosis and was diagnosed with thymoma-associated myasthenia gravis (MG). Read More

J Endocrinol Invest 2020 Mar 29. Epub 2020 Mar 29.

First Department of Medicine, Medical School, University of Pécs, 13 Ifjúság, Pecs, 7624, Hungary.

Purpose: Polyglandular autoimmune syndromes (PAS) are complex, heterogeneous disorders in which various autoimmune diseases can occur, affecting both endocrine and non-endocrine organs. In this meta-analysis, the prevalence of associated autoimmune disorders was investigated in PAS II and III.

Methods: A comprehensive search in MEDLINE and Embase databases identified 479 studies with the keywords of PAS II and PAS III. Read More

Probl Endokrinol (Mosk) 2019 11 23;65(5):362-366. Epub 2019 Nov 23.

Endocrinology Research Centre.

Autoimmune polyglandular syndrome type 1 (APS-1) is a rare disease with autosomal recessive inheritance and it caused by mutations in the autoimmune regulator (AIRE) gene. This disease has clinical polymorphism that including besides endocrinopathies other organ-specific manifestations and that complicates to diagnose of this condition on time. However, most often APS-1 has a characteristic debut and a certain stage of clinical symptom manifestation. Read More

J Pediatr Endocrinol Metab 2020 Apr;33(4):575-578

Catholic Childrens Hospital Wilhelmstift, Department of Paediatrics, Hamburg, Germany.

Background Autoimmune polyglandular syndrome type II (APS II) is defined as the combination of autoimmune adrenal insufficiency and autoimmune thyroid disease (AITD) and/or type I diabetes mellitus (T1DM) in the same patient. Case presentation A 15-year-old boy had a history of weight loss, nausea and vomiting, headache, restlessness, and tanned skin. He was diagnosed with Graves' disease. Read More

Medicine (Baltimore) 2020 Feb;99(7):e19179

Department of VIP Unit, China-Japan Union Hospital of Jilin University, Changchun, China.

Rationale: Polyglandular autoimmune syndromes (PAS) are a heterogeneous group of rare diseases characterized by the association of at least 2 organ-specific autoimmune disorders, concerning both the endocrine and nonendocrine organs. Type III is defined as the combination of autoimmune thyroid disease and other autoimmune conditions (other than Addison disease), and is divided into 4 subtypes. We describe a patient with Hashimoto thyroiditis, adult-onset Still disease, alopecia, vasculitis, antineutrophil cytoplasmic antibody (ANCA)-mediated crescentic glomerulonephritis, and hyperparathyroidism. Read More

Rev Assoc Med Bras (1992) 2019 Dec;65(12):1434-1437

. Hospital Assistant with a Degree on Internal Medicine, Tondela-Viseu Hospital Center, Portugal.

Autoimmune polyglandular syndrome type 2 (APS 2) is defined by the presence of Addison's disease (AD) associated with autoimmune thyroid disease and/or Type 1 diabetes mellitus (T1DM). It is a rare disease, affecting about 1.4-2 cases/100,000 inhabitants. Read More

Indian J Crit Care Med 2019 Dec;23(12):582-583

Department of Internal Medicine, Cleveland Clinic Akron General, Akron, Ohio, USA.

Autoimmune polyglandular syndrome (AIPS) is a heterogeneous condition characterized by the loss of immune tolerance and resultant dysfunction of multiple endocrine organs. Although this condition is insidious in nature, it frequently presents initially as adrenal insufficiency (AI). For patients in shock, physicians routinely assess for infections, volume depletion as well as cardiogenic and iatrogenic causes of shock. Read More

Case Reports Immunol 2019 28;2019:8746249. Epub 2019 Dec 28.

Assistant Professor, Albert Einstein College of Medicine, Attending in Medicine and Pediatrics, Division of Allergy and Immunology, Montefiore Medical Center, Bronx, NY, USA.

Polyglandular autoimmune syndrome type 1, also known as autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED), is a rare primary immunodeficiency disorder with multi-organ involvement. Besides for being predisposed to severe life-threatening infections, patients with APECED are also prone to organ impairment secondary to severe autoimmunity. As this is an autosomal recessive disorder, a biallelic mutation in the gene is responsible for APECED. Read More

J Diabetes Investig 2020 Jan 11. Epub 2020 Jan 11.

Department of Endocrinology and Diabetes, School of Medicine, Saitama Medical University, Saitama, Japan.

We present the first case of simultaneous development of Graves' disease and type 1 diabetes during anti-programmed cell death 1 therapy. A 48-year-old man with parotid gland adenocarcinoma and lung metastasis had received five courses of nivolumab. Fourteen days after administration of the sixth course, his casual plasma glucose and hemoglobin A1c levels were 379 mg/dL and 7. Read More

Immunol Med 2020 Mar 18;43(1):57-60. Epub 2019 Dec 18.

Department of Pediatrics, Musashino Red Cross Hospital, Tokyo, Japan.

An eight-year-old girl was admitted for prolonged fever and general fatigue. Bilateral reddened and swollen tonsils covered with white fur and increased numbers of atypical lymphocytes in blood led to a diagnosis of infectious mononucleosis (IM) due to primary Epstein-Barr virus (EBV) infection, which was confirmed by a positive anti-EBV viral capsid antigen IgM antibody reaction. She had a swollen thyroid gland and glycosuria at admission, which persisted after IM resolved. Read More

Forensic Sci Med Pathol 2020 Mar 28;16(1):166-170. Epub 2019 Nov 28.

Department of Pathology and Laboratory Medicine, School of Medicine and Public Health, University of Wisconsin, Madison, WI, 53792, USA.

The autoimmune polyglandular syndromes (APS) are rare immune-mediated endocrinopathies causing destruction of multiple endocrine and non-endocrine organs. Involvement of adrenal glands associated with any type of APS results in Addison's disease. While patients with Addison's disease often suffer from symptoms of neuroglycopenia, lethal hypotension and hypoglycemia are uncommon. Read More

Rom J Intern Med 2020 Mar;58(1):40-43

Department of Endocrinology, Metabolism and Nephrology, Kochi Medical School, Kochi University, Kohasu, Oko-cho,Nankoku, Kochi783-8505, Japan.

Introduction: Although type 1 diabetes mellitus is largely associated with autoimmune thyroid disease and this entity has been recently referred to as autoimmune polyglandular syndrome type 3 variant, the autoimmune polyglandular syndrome type 3 variant in patients with rheumatoid arthritis has not been reported so far. We herein describe the first case of rheumatoid arthritis that was associated with autoimmune polyglandular syndrome type 3 variant.

Case Report: A 77-year-old woman with a 15-year history of rheumatoid arthritis (RA) and a 10-year history of type 2 diabetes mellitus (T2D) presented with polyarthralgia and hyperglycaemia. Read More

Am J Case Rep 2019 Nov 20;20:1709-1714. Epub 2019 Nov 20.

Division of Endocrinology and Metabolism, Department of Internal Medicine, Kurume University School of Medicine, Kurume, Fukuoka, Japan.

BACKGROUND Patients with type 1 diabetes mellitus, myasthenia gravis (MG), and Hashimoto disease are diagnosed as having autoimmune polyendocrine syndrome type 3 (APS3). APS3 is rare, and its pathogenesis is unclear. We describe a female patient with APS3 whose human leukocyte antigen (HLA) type could provide a clue to the pathogenesis of APS3. Read More

Indian J Clin Biochem 2019 Oct 10;34(4):490-492. Epub 2018 Dec 10.

2Department of Endocrinology, PGIMER, Chandigarh, India.

Pseudohypoparathyroidism (PHP) is a state of parathyroid hormone resistance and is characterised by low serum calcium, and elevated serum phosphate and parathyroid hormone level. Association of PHP with autoimmune disorders is rare and seldom reported in the literature. Here we describe a case of PHP who subsequently developed multiple autoimmune disorders (type 3 polyglandular autoimmune syndrome), which has not been reported so far. Read More

Immunobiology 2019 11 6;224(6):728-733. Epub 2019 Sep 6.

Immunology Research Center, Mashhad University of Medical Sciences, Mashhad, Iran; Medical Genetics Research Center, Mashhad University of Medical Sciences, Mashhad, Iran. Electronic address:

Purpose: Autoimmune polyendocrine type 1 (APS-1) is a complex inherited autosomal recessive disorder. Classically, it appears within the first decade of life followed by adrenocortical insufficiency, mucocutaneous candidiasis, Addison's disease, and hypoparathyroidism. The clinical phenotype of APS-1 varies depending upon mutations in the autoimmune regulator gene (AIRE) on chromosome 21q22. Read More

BMJ Case Rep 2019 Aug 30;12(8). Epub 2019 Aug 30.

Pulmonary Medicine and Critical Care, UCSF, Fresno, California, USA.

A 31-year-old man with a recent diagnosis of hypothyroidism presented to the emergency department as a transfer from the clinic for severe hypotension and hypoglycaemia. The patient endorsed a 2-week history of severe fatigue, weight loss, nausea and non-bloody emesis. He was aggressively hydrated and vasopressors were initiated. Read More

Acta Med Okayama 2019 Aug;73(4):367-372

Department of Nephrology, Rheumatology, Endocrinology and Metabolism, Okayama University Graduate School of Medicine, Dentistry and Pharmaceutical Sciences, Okayama 700-8558, Japan.

Eight years prior to her present admission, a 61-year-old Japanese woman was diagnosed with autoimmune hepatitis, slowly progressive insulin-dependent diabetes mellitus, and chronic thyroiditis; she had been treated with oral prednisolone (PSL). After she suddenly discontinued PSL, she newly developed systemic lupus erythematosus. A combination therapy of oral PSL and intravenous cyclophosphamide resulted in remission. Read More

BMJ Case Rep 2019 Aug 21;12(8). Epub 2019 Aug 21.

Endocrinology, Covenant Clinic, Waterloo, Iowa, USA.

A 46-year-old woman was referred to the endocrinology clinic for evaluation of progressive fatigue, dizziness and treatment-resistant hypothyroidism. Initial laboratory results revealed hypothyroidism, hyponatraemia and hyperkalaemia. Liothyronine sodium (Cytomel) was initiated, which exacerbated her fatigue and dizziness. Read More

J Bone Miner Res 2019 12 13;34(12):2254-2263. Epub 2019 Nov 13.

Department of Endocrinology, Key Laboratory of Endocrinology of the Ministry of Health, Peking Union Medical Collage Hospital, Chinese Academy of Medical Science, Beijing, China.

At least 15 candidate genes have been implicated in hypoparathyroidism (HP). However, comprehensive screening of causative genes for HP is lacking. Here, we investigated the genotype spectrum in a large group of Chinese patients with childhood onset HP. Read More

BMC Med Genet 2019 08 16;20(1):143. Epub 2019 Aug 16.

Endocrinology and Metabolism Research Center, Endocrinology and Metabolism Clinical Sciences Institute, Tehran University of Medical Sciences, Tehran, Iran.

Background: Mutations of the autoimmune regulator gene (AIRE), located on chromosome 21q22.3, are recognized as the cause of a rare monogenic organ-specific autoimmune disorder called autoimmune polyglandular syndrome type 1 (APS-1). Three major components of this syndrome include chronic mucocutaneous candidiasis (CMC), hypoparathyroidism, and adrenocortical failure. Read More

Nihon Shokakibyo Gakkai Zasshi 2019 ;116(8):654-659

Department of Gastroenterology, Kansai Rosai Hospital.

A 42-year-old female developed type 1 diabetes mellitus at the age of 16 years and received insulin therapy. Esophagogastroduodenoscopy revealed an atrophic change localized in the gastric body and a small, protruding gastric lesion. Biopsy revealed that this lesion was gastric neuroendocrine tumor. Read More

Front Immunol 2019;10:1333. Epub 2019 Jun 21.

Krankenanstalt Rudolfstiftung, Vienna, Austria.

J Community Hosp Intern Med Perspect 2019 19;9(3):252-254. Epub 2019 Jun 19.

Community Medicine Department, Federal Teaching Hospital Abakiliki, Abakiliki, Nigeria.

Autoimmune polyglandular syndrome (APS) type 1 is a rare autoimmune disorder inherited in an autosomal recessive pattern due to loss of function of the AIRE gene and defective removal of self-reactive T-lymphocytes during the process of thymic T cell maturation. Its manifestation starts early in life with the cardinal clinical disorders being one of muco-cutaneous candidiasis, Addison's disease, and hypoparathyroidism. Recognizing the syndromic nature of one autoimmune disease will facilitate an active search for other conditions which would allow early detection, management, follow-up, and most importantly patient education and counselling to avoid potential complications. Read More

Elife 2019 06 27;8. Epub 2019 Jun 27.

Peter Gorer Department of Immunobiology, King's College London, London, United Kingdom.

In 2016, we reported four substantial observations of APECED/APS1 patients, who are deficient in AIRE, a major regulator of central T cell tolerance (Meyer et al., 2016). Two of those observations have been challenged. Read More

Elife 2019 06 27;8. Epub 2019 Jun 27.

Department of Medicine (Solna), Karolinska University Hospital, Karolinska Institutet, Stockholm, Sweden.

The gene plays a key role in the development of central immune tolerance by promoting thymic presentation of tissue-specific molecules. Patients with -deficiency develop multiple autoimmune manifestations and display autoantibodies against the affected tissues. In 2016 it was reported that: i) the spectrum of autoantibodies in patients with -deficiency is much broader than previously appreciated; ii) neutralizing autoantibodies to type I interferons (IFNs) could provide protection against type 1 diabetes in these patients (Meyer et al. Read More

Cureus 2019 Apr 1;11(4):e4356. Epub 2019 Apr 1.

Internal Medicine, University of Medicine and Dentistry of New Jersey, Newark, USA.

Addison's disease (AD), also known as primary adrenal insufficiency, is a rare autoimmune disorder affecting males and females equally. The most common cause of AD is autoimmune adrenalitis and other causes include metastatic cancers, tuberculosis and acquired immunodeficiency syndrome. AD presents with a wide variety of signs and symptoms and thus, making a diagnosis challenging. Read More

BMJ Case Rep 2019 Jun 4;12(6). Epub 2019 Jun 4.

Internal Medicine, St Mary Mercy Hospital, Livonia, Michigan, USA.

Petrified pinna refers to the calcification or ossification of the external auricular cartilage. It is an uncommon clinical entity and is most often associated with local trauma, frostbite or inflammation. Auricular calcification may be the exclusive cutaneous marker of underlying endocrinopathy. Read More

J Clin Endocrinol Metab 2019 10;104(10):4769-4782

Orphan Disease Center for Autoimmune Polyendocrinopathy, Department of Medicine I, Johannes Gutenberg University Medical Center, Mainz, Germany.

Context: This mini-review offers an update on the rare autoimmune polyendocrinopathy (AP) syndrome with a synopsis of recent developments.

Design And Results: Systematic search for studies related to pathogenesis, immunogenetics, screening, diagnosis, clinical spectrum, and epidemiology of AP. AP (orphan code ORPHA 282196) is defined as the autoimmune-induced failure of at least two glands. Read More

Curr Opin Infect Dis 2019 08;32(4):330-336

Department of Clinical Biochemistry and Immunology, Addenbrookes Hospital.

Purpose Of Review: The current review gives a concise and updated overview of the relative new field of anticytokine autoantibodies (ACAA) and associated infections with a focus on recent findings regarding clinical manifestions, diagnostic and treatments.

Recent Findings: Several recent case reports of unusual presentations of patients with neutralizing autoantibodies to IFN-γ and granulocyt macrophage colony-stimulating factor and expand the spectrum of clinical manifestations and suggest that anticytokine-mediated acquired immunodeficiency causing susceptibility to infection may be underdiagnosed. There is an expanding geographical distribution of antigranulocyt macrophage colony-stimulating factor associated Cryptococcus gattii infection. Read More

Glob Pediatr Health 2019 1;6:2333794X19845074. Epub 2019 May 1.

Beaumont Children's Hospital, Royal Oak, MI, USA.

Adrenal insufficiency is a rare, potentially life-threatening condition whose diagnosis requires a high index of suspicion. Adrenal insufficiency may be primary, secondary, or tertiary with varied etiologies. Primary insufficiency may be part of a cluster of autoimmune diseases, referred to as autoimmune polyglandular syndrome(s) (APS). Read More

BMJ Case Rep 2019 Apr 8;12(4). Epub 2019 Apr 8.

Department of General Medicine, R.G. Kar Medical College and Hospital, Kolkata, India.

The coexistence of adrenal failure with either autoimmune thyroid disease and/or type 1 diabetes is defined as autoimmune polyglandular syndrome (APS) type 2 or Schmidt's syndrome. Vitiligo, hypergonadotropic hypogonadism, chronic autoimmune hepatitis, alopecia, pernicious anaemia and seronegative arthritis may also be present. We present a case of 45-year-old Indian man with progressive jaundice and asthenia for 3 months. Read More

Front Immunol 2019 21;10:412. Epub 2019 Mar 21.

Section for Experimental Neuropsychiatry, Department of Psychiatry and Psychotherapy, Medical Center-University of Freiburg, Faculty of Medicine, University of Freiburg, Freiburg, Germany.

Mitochondrial diseases are caused by dysfunctions in mitochondrial metabolic pathways. MELAS syndrome is one of the most frequent mitochondrial disorders; it is characterized by encephalopathy, myopathy, lactic acidosis, and stroke-like episodes. Typically, it is associated with a point mutation with an adenine-to-guanine transition at position 3243 of the mitochondrial DNA (mtDNA; m. Read More

Int J Dermatol 2019 Jun 28;58(6):e123-e125. Epub 2019 Mar 28.

Department of Dermatology, Allergology and Venereology, Helsinki University Central Hospital, Helsinki, Finland.

Front Pediatr 2019 26;7:51. Epub 2019 Feb 26.

Pediatric Hematology Oncology, Azienda Ospedaliera Universitaria Integrata, Verona, Italy.

The polyglandular autoimmune syndrome type I is a rare hereditary autosomal recessive disease. We describe a child with the classic triad of the disease and her sister with pure red cell aplasia and cerebellar hypoplasia. The latter received two haematopoietic stem cell transplantations, complicated by an acute disseminated encephalomyelitis. Read More

Rev Med Chil 2018 Dec;146(12):1486-1492

Servicio de Medicina, Hospital Naval A. Nef., Viña del Mar, Chile.

We report a 23 year old woman presenting with a nephrotic syndrome due to minimal change disease, central diabetes insipidus, primary hypothyroidism, vitiligo and universal alopecia. Eleven years later, she presented secondary amenorrhea due to hypogonadotropic hypogonadism, with mild hyperprolactinemia and central adrenal insufficiency. A magnetic resonance imaging of the sella turcica showed a pituitary mass with suprasellar extension that was resected using a transsphenoidal approach. Read More

BMJ Case Rep 2019 Feb 26;12(2). Epub 2019 Feb 26.

Department of Internal Medicine, Monmouth Medical Center, Long Branch, New Jersey, USA.

A 24-year-old man with no significant medical history presented to the medical clinic with vomiting and giddiness for 2 days, loss of appetite for 1 month and progressive fatigability for the preceding 4 months. On examination, he was found to be hypotensive and was admitted to the hospital for work-up. Considering his abnormal labs and physical findings, he was worked up and was diagnosed with primary adrenal insufficiency. Read More

Biol Reprod 2019 06;100(6):1492-1504

Department of Anatomy and Cell Biology, University of Kansas Medical Center, Kansas City, Kansas, USA.

Autoimmune Regulator (AIRE) regulates central immune tolerance by inducing expression of tissue-restricted antigens in thymic medullary epithelial cells, thereby ensuring elimination of autoreactive T cells. Aire mutations in humans and targeted Aire deletion in mice result in multiorgan autoimmune disease, known in humans as autoimmune polyglandular syndrome type 1 (APS-1). APS-1 is characterized by the presence of adrenal insufficiency, chronic mucosal candidiasis, and/or hypoparathyroidism. Read More

Immunity 2019 02 29;50(2):362-377.e6. Epub 2019 Jan 29.

Diabetes Center, University of California, San Francisco, San Francisco, CA 94143, USA; Sean N. Parker Autoimmune Research Laboratory, University of California, San Francisco, San Francisco, CA 94143, USA. Electronic address:

Regulatory T (Treg) cells maintain immune tolerance through the master transcription factor forkhead box P3 (FOXP3), which is crucial for Treg cell function and homeostasis. We identified an IPEX (immune dysregulation polyendocrinopathy enteropathy X-linked) syndrome patient with a FOXP3 mutation in the domain swap interface of the protein. Recapitulation of this Foxp3 variant in mice led to the development of an autoimmune syndrome consistent with an unrestrained T helper type 2 (Th2) immune response. Read More

Ter Arkh 2018 Nov;90(10):23-29

National Medical Research Center of Endocrinology, Ministry of Health of Russia, Moscow, Russia.

Aim: To consider association of chronic adrenal insufficiency in patients with APS of adults with polymorphism of class II HLA genes, -CTLA-4 and PTPN-22.

Materials And Methods: The case-control study involved 78 patients with APS 2, 3, 4 types and 109 healthy subjects). Alleles of the HLA class II genes, CTLA-4 and PTPN-22 were identified by the multiprimer allele-specific PCR method. Read More

Clin Case Rep 2019 Jan 13;7(1):79-82. Epub 2018 Nov 13.

Genetics Department Instituto Nacional de Ciencias Médicas y Nutrición Salvador Zubirán Ciudad de México Mexico.

The evaluation of first-degree family members is very important to detect additional cases of polyglandular autoimmune syndrome type 2. The genetic evaluation of human leukocyte antigen (HLA) may be useful in the study of this syndrome. This study is the first report of an HLA study of this syndrome in a Mexican family. Read More