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Topic: Autoimmune polyendocrine syndrome

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	Autoimmune polyendocrine syndrome - Wikipedia, the free encyclopedia
		Autoimmune dysfunction of the parathyroid gland (leading to hypocalcemia) and the adrenal gland (Addison's disease: hypoglycemia, hypotension and severe reactions in disease).
		As opposed to type 2, this syndrome inherits in an autosomal recessive fashion and is due to a defect in AIRE ("autoimmune regulator"), a gene located on the 21st chromosome.
		Autoimmune polyendocrine syndrome, type 2 (also known as "Schmidt's syndrome") is more heterogeneous, occurs more often and has not been linked to one gene.
	en.wikipedia.org /wiki/Autoimmune_polyendocrine_syndrome (444 words)

	Autoimmune polyendocrine syndrome (Site not responding. Last check: 2007-10-20)
		In medicine, autoimmune polyendocrine syndromes are a heterogenous group of rare disease s characterised by autoimmune activity against more than one endocrine organ s, although non-endocrine organs can be affected.
		As opposed to type 2, this syndrome inherits in an autosomal recessive fashion and is due to a defect in AIRE ("''a uto i mmune re gulator"), a gene located on the 21st chromosome.
		POEMS syndrome - the ''E'' is for endocrinopathy; the cause is a paraprotein excreted by a plasmacytoma or multiple myeloma ; other features are polyneuropathy, organomegaly (hepatomegaly and splenomegaly), M-protein (paraprotein) and skin changes.
	www.bestlinkssite.com /a.php?title=Autoimmune_polyendocrine_syndrome (428 words)

	Autoimmune polyendocrine syndrome (via CobWeb/3.1 planetlab2.isi.jhu.edu) (Site not responding. Last check: 2007-10-20)
		There are three "autoimmune polyendocrine syndromes", and a number of other diseases which have endocrine autoimmunity as oneof their features.
		As opposed to type 2, this syndrome inherits in an autosomalrecessive fashion and is due to a defect in AIRE ("autoimmune regulator"), a gene located on the 21st chromosome.
		Autoimmune polyendocrine syndrome, type 2 (also known as "Schmidt's syndrome") is more heterogenous, occurs moreoften and has not been linked to one gene.
	www.therfcc.org.cob-web.org:8888 /autoimmune-polyendocrine-syndrome-8458.html (396 words)

	eMedicine - Polyglandular Autoimmune Syndrome, Type III : Article by KoKo Aung
		Autoimmunity, environmental factors, and genetic factors are the 3 major factors that should be considered in the pathophysiology of PAS III.
		The hallmark of polyglandular autoimmune syndrome (PAS) III is the absence of adrenal insufficiency.
		Autoimmune thyroiditis is the characteristic of all subcategories of PAS III.
	www.emedicine.com /med/topic1869.htm (4176 words)

	Oxford Chapter 8
		Initiating factors for the type II syndrome and its component illnesses are not established except for celiac disease (wheat protein gliadin) (107), the insulin autoimmune syndrome (e.g.
		Autoimmune disorders appear to share a number of “non-specific” abnormalities of T cell function or enumeration including increased numbers of cells expressing class II molecules (“Ia” positive T cells) (169), IL2 receptors, depressed autologous mixed lymphocyte responses (170), and lack of NK T cells (171).
		Other diseases with polyendocrine manifestations are Kearns-Sayre syndrome (192) diabetes and thyroiditis associated with trisomy 21 (193), DIDMOAD syndrome (diabetes insipidus, diabetes mellitus, optic atrophy, and nerve deafness) (194,195;196) and congenital rubella (152;197;198) associated with thyroiditis and/or diabetes.
	www.uchsc.edu /misc/diabetes/oxch8.html (6089 words)

	CHP - The Science of Proteins
		Autoimmune polyendocrine syndrome type I (APS I), a rare genetic disorder of childhood, has proven to be an invaluable tool in understanding autoimmune reactions.
		APS I (OMIM 240300), also known as APECED (autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy), is a severe autosomal recessive disorder caused by mutations in the Aire gene on chromosome 21.
		The disorder begins in early childhood and the patients gradually develop symptoms from autoimmune reactions in different endocrine and non-endocrine tissues and, in addition, mucocutaneous candidiasis, one of the hallmarks of the disease phenotype.
	chp.rcsi.ie /research/euraps.htm (262 words)

	Paraneoplastic Neurological syndromes: Professional area Stiff-Person Syndrome (Site not responding. Last check: 2007-10-20)
		The syndrome affects both sexes equally and is of insidious onset, usually in the fourth or fifth decades and is characterised by stiffness, more prominent in axial muscles, with co-contraction of agonist and antagonist and painful spasms precipitated by sensitive stimuli.
		The physiopathology of this syndrome is regarded as a disequilibrium between catecholaminergic excitatory and GABAergic inhibitory pathways in spinal cord and central nervous system.
		Autoimmunity to gephyrin, a cytosolic protein at post-synaptic inhibitory synapses, has been described in association with undifferentiated mediastinal tumour.
	www.pnseuronet.org /professionals/stiffman.htm (611 words)

	Addison's disease - Biocrawler (Site not responding. Last check: 2007-10-20)
		The most common cause is autoimmune, and can be tested for with an assay for 21-hydroxylase antibodies.
		Addison's disease can be an expression of an autoimmune polyendocrine syndrome when autoimmune reactions against other organs are also present.
		Through these syndromes, Addison's is associated with hypothyroidism, diabetes mellitus (type 1),vitiligo, alopecia and celiac disease.
	www.biocrawler.com /encyclopedia/Addison's_disease (609 words)

	Autoimmune
		In a multicenter national study, we examined the relationship between the prevalence of autoimmune disorders in celiac disease and the duration of exposure to gluten.
		In group A3, the prevalence of autoimmune disorders was significantly higher than in group C. In a logistic regression model, age at diagnosis was the only significant predictor variable of the odds of developing an autoimmune disorder (r = 0.3; P < 0.000001).
		The incidence of CD in various autoimmune disorders is increased 10- to 30-fold in comparison to the general population, although in many cases CD is clinically asymptomatic or silent.
	www.uams.edu /celiac/Jnl_Clb/autoimmune.htm (2037 words)

	Autoimmune Polyendocrine Syndromes
		AIRE denotes autoimmune regulator gene; APS-I autoimmune polyendocrine syndrome type I; XPID X-linked polyendocrinopathy, immune dysfunction, and diarrhea syndrome; PAE cell peripheral antigen-expressing cell in the thymus (probably both thymic epithelioid cells and macrophages or dendritic cells); APC antigen-presenting cell; Th2 cell type 2 helper T cell; and Th1 cell type 1 helper T cell.
		autoimmunity is that genes that increase thymic expression of
		The constellation of disorders of autoimmune polyendocrine syndrome
	www.medical-journals.com /r04_135.htm (5880 words)

	children with DIABETES - Diabetes Dictionary: A
		Addison's disease has several causes, including autoimmune destruction of the adrenal glands by antibodies, as in the Autoimmune Polyglandular Syndrome where it may be linked to type 1A diabetes.
		Type 1 diabetes is an autoimmune disease because the immune system attacks and destroys the insulin-producing beta cells.
		A group of autoimmune disorders that involve endocrine glands and which result in failure of the glands to produce their hormones.
	www.childrenwithdiabetes.com /dictionary/a.htm (1363 words)

	DiabetoValens.com - The Diabetes Guide
		Autoimmunity is a condition where the body’s defenses turn on it’s own selves.
		The process where the body learns to recognize self from non-self is called as clonal selection, that takes place in the thymus (an organ situated in the anterior part of the chest wall) in children.
		The syndrome of multiple endocrine organ involvement (and other organs that don't have hormones, like the skin) is called by several names, including:
	my.diabetovalens.com /infocus/autoimmune.asp (448 words)

	eMedicine - Polyglandular Autoimmune Syndrome, Type I : Article Excerpt by Saleh A Aldasouqi
		PGA syndrome type I (PGA-I), also known as autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED) or Whitaker syndrome, is associated with candidiasis, hypoparathyroidism, and adrenal failure.
		The evidence supporting the autoimmune etiology of this disease is based on the presence of chronic inflammatory infiltrates mainly composed of lymphocytes in the affected organs and on the presence of autoantibodies reacting to target tissue-specific antigens.
		Their primary function is to differentiate autoimmune causes and infectious/iatrogenic causes of endocrine insufficiency.
	www.emedicine.com /med/byname/Polyglandular-Autoimmune-Syndrome--Type-I.htm (1253 words)

	Celiac Disease-Associated Autoimmune Endocrinopathies -- Kumar et al. 8 (4): 678 -- Clinical and Vaccine Immunology
		Thyroid autoimmunity is common and is due to an apparent immune reaction directed against self antigens of the thyroid.
		Addison's disease is an autoimmune disorder characterized by the presence of autoantibodies to antigens in the adrenal cortex
		Schmidt's syndrome: autoimmune polyglandular disease of the adrenal and thyroid glands.
	cdli.asm.org /cgi/content/full/8/4/678 (5423 words)

	Theses from Uppsala University : 1249 - Organ-specific autoantibodies in Addison's disease and autoimmune polyendocrine ...
		The aim of this study was to investigate the prevalence of different autoantibodies and their associations with disease manifestations in patients with Addison's disease and autoimmune polyendocrine syndrome type I (APS I).
		Down syndrome is associated with an increased incidence of organ-specific autoimmune diseases.
		The presence of APS I-specific autoantibodies in patients with Down syndrome may be partly due to a dysregulation of the AIRE gene.
	publications.uu.se /theses/abstract.xsql?dbid=1249 (376 words)

	[Autoimmune polyendocrine syndrome (APS)]. (Site not responding. Last check: 2007-10-20)
		[Autoimmune polyendocrine syndrome (APS)].Since Addison's pioneer observations in the 19th century, physicians have known that some individuals and their families may be affected by several spontaneous endocrine insufficiencies that are associated with autoimmune extra-endocrine processes.
		APS-I or APECED syndrome appears in children firstly affected by recurrent muco-cutaneous candidiasis and hypoparathyroidism, followed by adrenocortical insufficiency and by other autoimmune processes.
		APS-II is a more common syndrome characterized by adrenocortical insufficiency spontaneously occurring in non tuberculous adults and associated with autoimmune thyroiditis and/or type 1 diabetes.
	www.ihop-net.org /UniPub/iHOP/gp/9317256.html (266 words)

	Medical Dictionary: Autoimmune polyendocrine syndrome (APS) - WrongDiagnosis.com
		Autoimmune polyendocrine syndrome (APS): Type of or association with medical condition Polyendocrine deficiency syndrome.
		Polyendocrine deficiency syndrome (medical condition): Polyendocrine syndromes are disease syndromes that affect various endocrine glands.
		Polyendocrine deficiency syndrome: Autoimmune polyglandular syndrome type I (APS1, also called APECED) is a rare autosomal recessive disorder that maps to human chromosome 21.
	wrongdiagnosis.com /medical/autoimmune_polyendocrine_syndrome_aps_.htm (259 words)

	Autoimmunity to Gastrointestinal Endocrine Cells in Autoimmune Polyendocrine Syndrome Type I -- Gianani and Eisenbarth ...
		Autoimmunity to Gastrointestinal Endocrine Cells in Autoimmune Polyendocrine Syndrome Type I -- Gianani and Eisenbarth 88 (4): 1442 -- Journal of Clinical Endocrinology & Metabolism
		Autoimmune polyendocrine syndrome type I (APS-I; Ref. 1) is
		Betterle C, Dal Pra C, Mantero F, Zanchetta R 2002 Autoimmune adrenal insufficiency and autoimmune polyendocrine syndromes: autoantibodies, autoantigens, and their applicability in diagnosis and disease prediction.
	jcem.endojournals.org /cgi/content/full/88/4/1442 (2189 words)

	Eurekah - Autoimmune Polyendocrine Syndrome Type II
		These syndromes are of particular interest in that they have led to the identification of a series of diseases of autoimmune etiology
		The two syndromes are very distinct in terms of their genetic etiology and have different, though somewhat overlapping disease associations (Table 1).
		Autoimmunity can be defined as immune responses directed against selfantigens and an autoimmune disorder as a disease which results from autoimmunity.
	www.eurekah.com /chapter/74 (485 words)

	Medical Dictionary: Autoimmune polyendocrine syndrome, type I - WrongDiagnosis.com
		Autoimmune polyendocrine syndrome, type I is listed as a "rare disease" by the Office of Rare Diseases (ORD) of the National Institutes of Health (NIH).
		This means that Autoimmune polyendocrine syndrome, type I, or a subtype of Autoimmune polyendocrine syndrome, type I, affects less than 200,000 people in the US population.
		Terms associated with Autoimmune polyendocrine syndrome, type I: Terms that may be interchangeable with Autoimmune polyendocrine syndrome, type I: Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED)
	www.wrongdiagnosis.com /medical/autoimmune_polyendocrine_syndrome_type_i.htm (242 words)

	Gene Information (Site not responding. Last check: 2007-10-20)
		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).
		Anderson MS, et al used aire- deficient mice to test the hypothesis that this transcription factor regulates autoimmunity by promoting the ectopic expression of peripheral tissue- restricted antigens in medullary epithelial cells of the thymus.
		The mutant animals exhibited a defined profile of autoimmune diseases that depended on the absence of aire in stromal cells of the thymus.
	ovary.stanford.edu /4_display.html?rec=1092 (610 words)

	Autoimmune Polyendocrine Syndrome Type II (Site not responding. Last check: 2007-10-20)
		Autoimmune Polyendocrine Syndrome Type II National Organization for Rare Disorders, Inc.
		It is possible that the main title of the report Autoimmune Polyendocrine Syndrome Type II is not the name you expected.
		Autoimmune polyendocrine syndrome type II, also known as Schmidt syndrome, is a rare autoimmune disorder in which there is a steep drop in production of several essential hormones by the glands that secrete these hormones.
	www.healthnowny.com /kbase/nord/nord855.htm (501 words)

	The Transcription Factors SOX9 and SOX10 Are Vitiligo Autoantigens in Autoimmune Polyendocrine Syndrome Type I -- ...
		The Transcription Factors SOX9 and SOX10 Are Vitiligo Autoantigens in Autoimmune Polyendocrine Syndrome Type I -- Hedstrand et al.
		Vitiligo is common in the hereditary disorder autoimmune polyendocrine syndrome type I (APS I).
		The abbreviations used are: APS I, autoimmune polyendocrine syndrome type I; PCR, polymerase chain reaction; ITT, in vitro transcription and translation.
	www.jbc.org /cgi/content/full/276/38/35390 (4374 words)

	eMedicine - Polyglandular Autoimmune Syndrome, Type I : Article by Saleh A Aldasouqi
		Depending on the presentation, liver function tests along with antibodies to the liver, kidney, and spleen (autoimmune hepatitis) may be considered because of their occasional association with PGA-I. Malabsorption and atrophic gastritis occasionally are associated with PGA-I, and patients with suggestive clinical features may require endoscopic biopsies to prove the diagnosis.
		The educational aspect is extremely important because it helps the patient with the early detection of any new autoimmune states and aids in the adequate treatment of this chronic syndrome.
		When evidence of a second autoimmunity is present, consider that the patient may have PGA-I or PGA-II because of the different prognoses in the syndromes.
	www.emedicine.com /med/topic1867.htm (5148 words)

	A case of adult GH deficit in a woman with Autoimmune Polyendocrine Syndrome type II
		She was diagnosed with Addison’s disease because biochemical data were indicative for autoimmune adrenal failure (positivity for adrenal cortex antibodies).
		She was therefore diagnosed with Schmidt’s syndrome (Polyglandular Autoimmune Endocrine Insufficiency-PGAII).
		Thus we also studied pituitary function with GH-RH+Arginine test in order to evaluate a possible GH-deficit (GHD) due to an autoimmune inflammations of the pituitary gland, because also this gland could be attacked by organ specific autoantibodies, and in relation to the persistence of clinical symptomatology.
	www.endocrine-abstracts.org /ea/0011/ea0011p89.htm (270 words)

	Mutational analysis of the autoimmune regulator (AIRE) gene in sporadic autoimmune Addison's disease can reveal ...
		Mutational analysis of the autoimmune regulator (AIRE) gene in sporadic autoimmune Addison's disease can reveal patients with unidentified autoimmune polyendocrine syndrome type I -- Boe et al.
		OBJECTIVE: To investigate whether patients with Addison's disease and polyendocrine syndromes have undiagnosed autoimmune polyendocrine syndrome type I (APS I).
		RESULTS: A 30-year old man who had developed Addison' s disease at the age of 12, but had no other components of APS I, was homozygous for the 1094-1106 deletion mutation in exon 8 of the AIRE gene, the most common mutation found in Norway.
	www.eje-online.org /cgi/content/abstract/146/4/519 (378 words)

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