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At least 19 recordsLinked to original sources
PubMed1982

Juvenile autoimmune polyendocrinopathy.

Juvenile autoimmune polyendocrinopathies are characterized by the coexistence of hypoparathyroidism, chronic candidiasis and adrenal insufficiency. This is in contrast with associated autoimmune endocrine diseases in the adult. Gonadal insufficiency is frequently encountered as well. Some other diseases can also be associated to these endocrinopathies: alopecia, diarrhea, malabsorption or chronic active hepatitis. The pathophysiological aspects of this syndrome are discussed.

Addison Disease↗
PubMed1998

A common and recurrent 13-bp deletion in the autoimmune regulator gene in British kindreds with autoimmune polyendocrinopathy type 1.

Autoimmune polyendocrinopathy type 1 (APS1) is an autosomal recessive disorder characterized by autoimmune hypoparathyroidism, autoimmune adrenocortical failure, and mucocutaneous candidiasis. Recently, an autoimmune regulator gene (AIRE-1), which is located on chromosome 21q22.3, has been identified, and mutations in European kindreds with APS1 have been described. We used SSCP analysis and direct DNA sequencing to screen the entire 1,635-bp coding region of AIRE-1 in 12 British families with APS1. A 13-bp deletion (964del13) was found to account for 17 of the 24 possible mutant AIRE-1 alleles, in our kindreds. This mutation was found to occur de novo in one affected subject. A common haplotype spanning the AIRE-1 locus was found in chromosomes that carried the 964del13 mutation, suggesting a founder effect in our population. One of 576 normal subjects was also a heterozygous carrier of the 964del13 mutation. Six other point mutations were found in AIRE-1, including two 1-bp deletions, three missense mutations (R15L, L28P, and Y90C), and a nonsense mutation (R257*). The high frequency of the 964del13 allele and the clustering of the other AIRE-1 mutations may allow rapid molecular screening for APS1 in British kindreds. Furthermore, the prevalence of the 964del13 AIRE-1 mutation may have implications in the pathogenesis of the more common autoimmune endocrinopathies in our population.

Alleles↗
PubMedDate not supplied

[The pathological characteristics of the thyroid in autoimmune polyendocrinopathies].

After examination of 18 patients with autoimmune polyendocrinopathies the authors have arrived at a conclusion that thyroid pathology is the most frequent sign of autoimmune polyendocrinopathies and is noted earlier than other endocrine disorders. A course of thyropathies is characterized by resistance to conservative therapy and recurrences after surgical interventions. A high hereditary aggravation of patients with autoimmune polyendocrinopathies requires careful investigation of their relatives for early detection of endocrine pathology.

Adolescent↗
PubMed2001

Subcellular location and expression pattern of autoimmune regulator (Aire), the mouse orthologue for human gene defective in autoimmune polyendocrinopathy candidiasis ectodermal dystrophy (APECED).

Autoimmune polyendocrinopathy candidiasis ectodermal dystrophy (APECED), also known as autoimmune polyglandular syndrome Type I (APS1), is an autosomal recessive autoimmune disease caused by mutations in a gene designated as AIRE (autoimmune regulator). Here we have studied the expression of Aire in transfected cell lines and in adult mouse tissues. Our results show that Aire has a dual subcellular location and that it is expressed in multiple immunologically relevant tissues such as the thymus, spleen, lymph nodes, and bone marrow. In addition, Aire expression was detected in various other tissues such as kidney, testis, adrenal glands, liver, and ovary. These findings suggest that APECED protein might also have a function(s) outside the immune system.(J Histochem Cytochem 49:197-208, 2001)

Animals↗
PubMed1991

Organ-specific cardiac antibodies: serological markers for systemic hypertension in autoimmune polyendocrinopathy.

Circulating organ-specific autoantibodies are serological markers of destruction or impairment of the relevant endocrine tissue cells and may be associated with abnormal hormone levels with or without clinical evidence of overt disease. We sought organ-specific cardiac antibodies in patients with autoimmune polyendocrinopathy because of increasing evidence that the heart has endocrine characteristics (secretion of atrial natriuretic peptide [ANP] and other peptide hormones). Serum samples from 166 patients with polyendocrinopathy, 80 with autoimmunity confined to one gland, and 200 healthy blood donors were tested for these antibodies by means of immunofluorescence on human heart. Skeletal muscle was used to identify cross-reacting antibodies. Organ-specific cardiac antibodies were detected in significantly more of the patients with autoimmune polyendocrinopathy (28 [17%]) than of those with autoimmunity confined to one gland (1 [1%]) or of normal subjects (7 [3.5%]; p = 0.0001). Among the patients with autoimmune polyendocrinopathy, the prevalence of systemic hypertension was higher in those with cardiac autoantibodies than in those without (5/28 [18%] vs 2/80 [3%]; p = 0.01); the same was true for a family history of hypertension (11 [42%] vs 5 [7%]; p = 0.0001). There were no significant differences in mean basal or stimulated ANP concentrations between patients with or without antibodies or between patients and controls. 5 of the 22 antibody-positive patients had ANP concentrations outside the normal range, but these disturbances were not associated with systemic hypertension or a family history of the disorder. Patients with autoimmune polyendocrinopathy can have organ-specific cardiac antibodies, which may represent novel serological markers for an autoimmune form of systemic hypertension in the absence of overt cardiac disease.

Adult↗
PubMedDate not supplied

Unusual manifestations of type 1 autoimmune polyendocrinopathy.

We present a family with five members affected by Type 1 autoimmune polyendocrinopathy. All patients had chronic mucocutaneous candidiasis and dental abnormalities. Four patients had ocular abnormalities, four had hypoparathyroidism, and three had Addison's disease. The family was unusual in that all four affected females had premature ovarian failure. The ocular abnormalities included two patients with subcapsular lens opacities, one patient with asymptomatic corneal opacities, and one patient with severe bilateral iridocyclitis with cataract formation. One patient had pernicious anaemia and one had insulin dependent diabetes mellitus. All patients were negative on repeated occasions for organ specific and non-organ specific autoantibodies. Lymphocyte studies were performed in four patients. A deficiency of T suppressor cells was found in three and low normal levels were present in the fourth suggesting that the syndrome may be due to a defect in suppressor T cells.

Adolescent↗
PubMed1999

[Familial chronic mucocutaneous candidiasis associated with autoimmune polyendocrinopathy. Treatment with fluconazole: 3 cases].

BACKGROUND: Familial candidiasis endocrinopathy is a hereditary disease variably associated with i) a dysfunction of the parthyroid, adrenal, thyroid, pituitary or ovarian glands as well as the pancreas (diabetes), liver (hepatitis) and gastric wall cells (Biermer's disease); ii) chronic mucocutaneous candidiasis; iii) autoimmune manifestations: chronic keratitis, pelade, vitiligo, hemolytic anemia. CASE REPORTS: We cared for three pediatric patients with chronic mucocutaneous candidiasis associated with an autoimmune polyendocrinopathy. There was a familial context in all cases with an autosomal dominant inheritance in the first case and an autosomal recessive inheritance in the two others who were siblings. In all three cases, the chronic mucocutaneous candidiasis began before the age of 5 years and had preceded the development of the endocrinopathy. Fluconazole was effective in all three cases. DISCUSSION: Chronic mucocutaneous candidiasis may appear as the inaugural symptom of an autoimmune polyendocrinopathy and should lead to a familial study with an andocrinology work-up to determine any clinical manifestations and biological evidence of autoimmunity. Fluconazole does not have marketing approval for children, but provides good control of the fungal infection, particularly in the ungueal localization, and is well tolerated.

Adolescent↗
PubMedDate not supplied

Microangiopathic complications in type 1 diabetes mellitus: differences in severity when isolated or associated with autoimmune polyendocrinopathies.

CONTEXT: The development and evolution of different chronic diabetic complications may present variations among the different types and conditions of this disease. OBJECTIVE: To evaluate the degree of microangiopathy in Type 1 diabetes mellitus (DM1) associated with autoimmune polyendocrinopathies (OSAD) or isolated DM1 (iDM1). PATIENTS: OSAD (n = 17) and iDM1 (n = 13) were over 15 years old at diagnosis of DM and were matched for diabetes duration (13.9 +/- 8.2 and 13.2 +/- 5.9 years respectively) and metabolic control (HbA1c: 6.4 +/- 1.9 and 6.8 +/- 1.4%). MAIN OUTCOME MEASURES: Urinary albumin excretion (UAE; ELISA), the inversion of serum creatinine (1/C) level and indirect ophthalmoscopy. RESULTS: Although the prevalence of hypertension was similar in both groups, the OSAD had inferior levels of UAE (7.4 +/- 2.5 vs. 17.3 +/- 9.2 micrograms/min; p < 0.05). Nephropathy was detected in 12% of the OSAD (none of them macroproteinuric) and in 39% of the iDM1. The UAE in the iDM1 correlated negatively with 1/C values (r = -0.7, p < 0.005), but the same did not occur in the OSAD (r = 0.2, ns). Among patients with retinopathy, the severe form was found in 29% of the OSAD and in 46% of the iDM1. CONCLUSIONS: OSAD was associated with a lower degree of microangiopathy, in spite of age at diagnosis, duration of diabetes and the metabolic control. In contrast with the iDM1, the increase in UAE of OSAD was not associated with reductions in GFR.

Adolescent↗
PubMed2002

A novel missense mutation of AIRE gene in a patient with autoimmune polyendocrinopathy, candidiasis and ectodermal dystrophy (APECED), accompanied with progressive muscular atrophy: case report and review of the literature in Japan.

Autoimmune polyendocrinopathy, candidiasis, and ectodermal dystrophy (APECED) also known as autoimmune polyglandular syndrome type I, is a rare autosomal recessive disorder that results in several autoimmune diseases due to mutations in the AIRE (autoimmune regulator) gene. A 39-year-old female patient developed chronic mucocutaneous candidiasis at 3 yrs, idiopathic hypoparathyroidism at 11 yrs, chronic hepatitis at 23 yrs, Addison's disease and diabetes mellitus type I at 27 yrs. In addition, the patient developed progressive muscular atrophy of unknown etiology at the beginning of the third decade, and is bedridden at the present time. Her grandparents, parents, brother and daughter did not develop any features of APECED, but her father died of hepatoma. Direct sequencing of the AIRE gene revealed a novel missense mutation at exon 1 (R15C), which was identified to be of maternal origin. The other mutation was not found despite repeated sequencing of the whole coding regions. The R15C mutation was not detected in patients with idiopathic hypoparathyroidism (N= 10), idiopathic Addison's disease (N = 3), and normal subjects (N = 55). Although we could not analyze the father's gene, these results suggest that the patient is probably a compound heterozygote of the AIRE gene, in which the other abnormal allele could not be identified by the present analytical method. These data are compatible with the recent review that only one defective allele was detectable in some patients with clinically evident APECED. We found only six Japanese patients compatible with diagnosis of APECED, indicating that this autoimmune disease is extremely rare in our country.

Adult↗
PubMed2000

Normal thymic architecture and negative selection are associated with Aire expression, the gene defective in the autoimmune-polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED).

T cell development is tightly controlled by thymic stromal cells. Alterations in stromal architecture affect T cell maturation and the development of self-tolerance. The monogenic autoimmune syndrome APECED (autoimmune-polyendocrinopathy-candidiasis-ectodermal dystrophy) is characterized by the loss of self-tolerance to multiple organs. Although mutations in the autoimmune regulator (AIRE) gene are responsible for this disease, the function of AIRE is not known. Here we report on the spatial and temporal pattern of murine Aire expression during thymic ontogeny and T cell selection. Early during development, thymic Aire transcription is critically dependent on RelB and occurs in epithelial cells in response to lymphocyte-mediated signals. In adult tissue, Aire expression is confined to the medulla and the corticomedullary junction, where it is modulated by thymocytes undergoing negative selection. Aire may determine thymic stromal organization and with it the induction of self-tolerance.

Animals↗
PubMed1994

T-cell large granular lymphocytic leukemia and pure red cell aplasia in a patient with type I autoimmune polyendocrinopathy: response to immunosuppressive therapy.

Clonal proliferations of large granular lymphocytes (LGLs) of T-cell origin characterize T-cell LGL leukemia. This disorder has been described in association with rheumatoid arthritis and other autoimmune phenomena. The presence of endocrinologic abnormalities in patients with T-cell LGL leukemia has not been previously reported, nor has T-cell LGL leukemia been described in patients with endocrinologic abnormalities. Herein we describe a young woman with type I autoimmune polyendocrinopathy, in whom pure red cell aplasia developed in association with clonal proliferation of LGLs. Immunosuppressive therapy with cyclophosphamide resulted in remission of pure red cell aplasia, transient improvement in hypocalcemia, and disappearance of the LGL clone. Clonal proliferation of LGLs may be associated with autoimmune endocrinopathies. Clinicians who are responsible for the care of such patients should be aware of this possible association.

Adult↗
PubMed1985

Autoimmune polyendocrinopathy--candidosis--ectodermal dystrophy (APECED): autosomal recessive inheritance.

A genetic analysis was made of 58 patients and their 42 families with APECED (autoimmune polyendocrinopathy--candidosis--ectodermal dystrophy). APECED is characterized by hypoparathyroidism, primary adrenocortical failure and chronic mucocutaneous candidosis, but none of its components is constant. Other endocrine deficiencies can occur as well and also dystrophy of dental enamel and nails. The proportion of affected siblings was 0.147 +/- 0.034 (S.D.) when corrected for truncate single ascertainment, 0.246 +/- 0.019 when corrected for a priori truncate complete ascertainment and 0.240 +/- 0.047 when corrected for a posteriori truncate complete ascertainment. The male/female ratio was 1.04. The results are compatible with autosomal recessive transmission. No heterozygous manifestations of the gene were found. The gene is enriched in isolated subpopulations in central and eastern Finland. APECED is part of the "Finnish heritage of disease".

Adrenal Insufficiency↗
PubMed1978

[Autoimmune polyendocrinopathy with IGA deficiency].

Case report of a 35-year-old female patient who was admitted in Addisonian crisis and in whom primary adrenal, ovarian and thyroid failure was detected. Antibodies against the adrenals and the thyroid were found, together with dinished serum IgA levels. The patient had been treated for 20 years with diphenylhydantoin, a drug known to induce immunological disturbances, e.g. depression of serum IgA levels. The IgA deficiency and pluriglandular failure may be due to prolonged therapy with diphenylhydantoin. The coincidence of IgA deficiency and autoimmune diseases is well known. As far as is known this is the first case of IgA deficiency associated with autoimmune polyendocrinopathy.

Addison Disease↗
PubMedDate not supplied

[Autoimmune polyendocrinopathy and chronic mucocutaneous candidiasis].

A chronic mucocutaneous infection due to yeasts to the Candida genus can be part of the autoimmune polyglandular syndrome, described as APECS, APECED, SPA type I, CES. The authors describe the case of a young patient affected by mucocutaneous candidiasis, hypoparathyroidism and adrenal insufficiency. Chronic mucocutaneous candidiasis was diagnosed first in early childhood and was followed by the development of hypoparathyroidism (4 yrs) and adrenal insufficiency (5 yrs). The initial lesion of this syndrome is still unknown as the reason of the marked susceptibility to mucocutaneous candidiasis without systemic candidiasis. The treatment of mucocutaneous candidiasis has been improved by the introduction of orally active antifungal drugs as Ketoconazole, first, and fluconazole now.

Addison Disease↗
PubMed1996

Autoimmune polyendocrinopathy--candidiasis--ectodermal dystrophy (APECED).

APECED, an autosomal recessive disease manifests itself as a widely variable combination of three groups of components: 1) autoimmune destruction of tissues, predominantly endocrine glands, 2) chronic superficial candidiasis, and 3) ectodermal dystrophy. Clinical and basic information obtained from Finnish series of 72 patients is reviewed.

Addison Disease↗