Autoimmune Polyglandular Syndrome Type 1

Betterle, Corrado; Greggio, Nella Augusta; Volpato, M

doi:10.1210/jcem.83.4.4682

Cited by 342 publications

(312 citation statements)

References 71 publications

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“…47 APS-1 is diagnosed based on the presence of two of three clinical signs: adrenal insufficiency, hypoparathyroidism and chronic mucocutaneous candidiasis. 48 More recently, an additional criterion has been proposed based on the presence of neutralizing autoantibodies against type I interferons and interleukin (IL)-17A, IL-17F and/ or IL-22 in nearly all APS-1 patients. 49,50 The disease usually manifests in childhood with chronic candidiasis; all three of the main clinical manifestations are present by age 20 in about a third of the patients.…”

Section: Autoimmune Oophoritis As a Cause For Primary Ovarian Insuffimentioning

confidence: 99%

Ovarian autoimmune disease: clinical concepts and animal models

et al. 2014

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The ovary is not an immunologically privileged organ, but a breakdown in tolerogenic mechanisms for ovary-specific antigens has disastrous consequences on fertility in women, and this is replicated in murine models of autoimmune disease. Isolated ovarian autoimmune disease is rare in women, likely due to the severity of the disease and the inability to transmit genetic information conferring the ovarian disease across generations. Nonetheless, autoimmune oophoritis is often observed in association with other autoimmune diseases, particularly autoimmune adrenal disease, and takes a toll on both society and individual health. Studies in mice have revealed at least two mechanisms that protect the ovary from autoimmune attack. These mechanisms include control of autoreactive T cells by thymus-derived regulatory T cells, as well as a role for the autoimmune regulator (AIRE), a transcriptional regulator that induces expression of tissue-restricted antigens in medullary thymic epithelial cells during development of T cells. Although the latter mechanism is incompletely defined, it is well established that failure of either results in autoimmune-mediated targeting and depletion of ovarian follicles. In this review, we will address the clinical features and consequences of autoimmune-mediated ovarian infertility in women, as well as the possible mechanisms of disease as revealed by animal models.

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Section: Autoimmune Oophoritis As a Cause For Primary Ovarian Insuffimentioning

confidence: 99%

Ovarian autoimmune disease: clinical concepts and animal models

et al. 2014

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“…These cells assist gut growth, circulation, motility, and secretion of pancreatic enzymes and bile. 2,14,18 Lack of enteroendocrine cells in small bowel biopsies confirms autoimmune enteropathy and is demonstrated with chromogranin A and serotonin staining. Hematoxylin and eosin stains are often normal, as shown in this case.…”

Section: Discussionmentioning

confidence: 86%

“…1,2,8,18 Hypocalcemia can also lead to malabsorption through reduction of cholecystokinin, decreased gall bladder emptying, and pancreatic insufficiency. 2,5,14 More recently, autoimmune enteropathy has been described as a significant contributor with destruction of enteroendocrine cells by TPH antibodies.…”

Section: Discussionmentioning

confidence: 99%

Recalcitrant Hypocalcaemia in Autoimmune Enteropathy

Geyer

Fairchild²,

Moore³

et al. 2014

Pediatrics

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Autoimmune polyendocrinopathy candidiasis ectodermal dystrophy syndrome is a monogenic disorder associated with autoimmune destruction of both endocrine and nonendocrine tissues. The classic triad includes candidiasis, hypoparathyroidism, and Addison disease. Up to 25% of patients with autoimmune polyendocrinopathy candidiasis ectodermal dystrophy syndrome also have gastrointestinal manifestations, which can have an impact on the management of other aspects of the disease. The management of the case discussed was challenging because of the complex interplay between the manifestations and treatment of his hypoparathyroidism, Addison disease, and autoimmune enteropathy. Attempts at management of hypocalcemia were largely unsuccessful until the introduction of immunosuppressive therapy for autoimmune enteropathy. This case supports early consideration of immunosuppression in this condition.

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“…Pernicious anemia is seen in up to 16% of APECED patients, but other forms of anemia have been occasionally noted as well [13]. Three cases of autoimmune hemolytic anemia [14,15], one case of pure red cell aplasia [16], and one case of splenomegaly with pancytopenia [17] have been reported in association with APECED. In the present report we describe a patient with APCED who developed a severe symptomatic isolated normocytic, hypoproliferative anemia that was responsiveness to treatment with exogenous erythropoietin.…”

Section: Introductionmentioning

confidence: 99%

Erythropoietin‐deficient anemia associated with autoimmune polyglandular syndrome type I

2004

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Autoimmune polyglandular syndrome type I (APS1), a relatively common disorder in some populations, is frequently associated with adrenal insufficiency, hypoparathyroidism, and other endocrine and skin abnormalities. We describe an 18-year-old male with APS1, as documented by genotyping, who presented with hypoparathyroidism and a normocytic, hypoproliferative, isolated anemia. An extensive hematological work-up revealed a low serum erythropoietin, without any other hematological abnormalities. His renal function was normal, and he did not have many of the laboratory or clinical findings associated with an anemia of chronic disease. His anemia was responsive to superphysiologic doses of erythropoietin. We thus suggest that erythropoietin deficiency may be one of the endocrine abnormalities associated with APS1, and clinicians should be cognizant of the association of treatable anemia in patients with APS1. Am.

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Autoimmune Polyglandular Syndrome Type 1

Cited by 342 publications

References 71 publications

Ovarian autoimmune disease: clinical concepts and animal models

Ovarian autoimmune disease: clinical concepts and animal models

Recalcitrant Hypocalcaemia in Autoimmune Enteropathy

Erythropoietin‐deficient anemia associated with autoimmune polyglandular syndrome type I

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