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Topic: Autoimmune polyendocrinopathy syndrome, type I

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Autoimmune

	Autoimmune polyendocrinopathy syndrome definition - Medical Dictionary definitions of popular medical terms
		The autoimmune polyendocrinopathy syndrome was the first systemic (bodywide) autoimmune disease found due to a defect in a single gene.
		The syndrome is inherited as a recessive trait such that a child with the disease has received 2 changed (mutant) AIRE genes, one from each parent.
		Other features of the autoimmune polyendocrinopathy syndrome are total baldness (alopecia totalis), inflammation of the cornea and whites of the eye (keratoconjunctivitis), underdevelopment (hypoplasia) of the enamel of the teeth, childhood-onset moniliasis (yeast infection), juvenile-onset pernicious anemia, gastrointestinal problems (malabsorption, diarrhea), and chronic active hepatitis.
	www.medterms.com /script/main/art.asp?articlekey=14364 (596 words)

	eMedicine - Polyglandular Autoimmune Syndrome, Type I : Article by Olakunle P A Akinsoto
		Polyglandular autoimmune (PGA) syndromes (otherwise known as polyglandular failure syndromes) are constellations of multiple endocrine gland insufficiencies.
		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 a chronic inflammatory infiltrate mainly composed of lymphocytes in the affected organs and on the presence of autoantibodies reacting to target tissue-specific antigens.
	www.emedicine.com /med/topic1867.htm (3808 words)

	IDR factfile for Autoimmune polyendocrinopathy with candidiasis and ectodermal dystrophy
		IDR factfile for Autoimmune polyendocrinopathy with candidiasis and ectodermal dystrophy
		APECED; Autoimmune polyendocrine syndrome, type I; APS1; Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy; Autoimmune polyglandular syndrome, type I; Polyglandular autoimmune syndrome, type I; PGA I; Hypoadrenocorticism with hypoparathyroidism and superficial moniliasis; Polyglandular deficiency syndrome, persian-jewish type; Autoimmune polyendocrinopathy syndrome, type I, autosomal dominant
		Patients with APECED have autoimmune polyendocrinopathies (hypoparathyroidism, adrenocortical failure, IDDM, gonadal failure, hypothyroidism, pernicious anemia, and hepatitis), chronic mucocutaneous candidiasis, ectodermal dystrophies (vitiligo, alopecia, keratopathy, dystrophy of dental enamel, nails and tympanic membranes).
	dna.uta.fi /xml/idr/FF72.xml (341 words)

	Autoimmune Polyendocrinopathy-Candidiasis-Ectodermal Dystrophy (APECED) - DNA Analysis
		Autoimmune polyendocrinopathy syndrome type I (APS1), also known as autoimmune polyendocrinopathy- candidiasis-ectodermal dystrophy (APECED) is an autosomal-recessive disorder clinically characterized by three major clinical symptoms: Addison's disease,hypoparathyroidism, and chronic mucocutaneous candidiasis.
		AIRE (autoimmune regulator) is an important mediator of central tolerance.
		Sequence analysis of the entire AIRE gene associated with Autoimmune polyendocrinopathy syndrome type I is available on a clinical basis at the Medical Genetics Laboratories at Baylor College of Medicine.
	www.bcm.edu /geneticlabs/tests/dna/AIRE.html (279 words)

	GAD autoantibodies in IDDM, stiff-man syndrome, and autoimmune polyendocrine syndrome type I recognize different ... (Site not responding. Last check: 2007-10-23)
		In this syndrome, mucocutaneous candidiasis, hypoparathyroidism, and adrenal failure are common features and appear in early childhood, whereas other components, like IDDM, gastric parietal cell failure, and hypothyroidism may develop later in a smaller fraction of the cases [9].
		In autoimmune disorders, enzymes are often autoantigens [10], and autoantibodies frequently inhibit their activity, whereas antibodies produced by immunization of experimental animals rarely affect the enzymatic functions [11], illustrating that the route of immunization influences the selection of antibody-producing lymphocytes.
		In many autoimmune disorders, intracellular enzymes are major autoantigens, such as the Ro antigen in Sjogren's syndrome [20], pyruvate dehydrogenase in primary biliary cirrhosis [21], thyroid peroxidase in autoimmune thyroiditis [22], [H.sup.+]/[K.sup.+]-ATPase in autoimmune gastritis [23], 21-hydroxylase in idiopathic Addison's disease [24], and cytochrome [P.sub.450] db1 in active hepatitis type II [25].
	highbeam.com /doc/1G1:14832676/GAD+autoantibodies+in+IDDM,+... (3374 words)

	Gene Information
		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)

	[No title] (Site not responding. Last check: 2007-10-23)
		Kallmann's Syndrome was classified as a form of hypogonadotropic hypogonadism.
		Alopecia anosmia deafness hypogonadism syndrome Alopecia areata Alopecia congenita keratosis palmoplantaris Alopecia contractures dwarfism mental retardation Alopecia epilepsy oligophrenia syndrome of...
		Syndrome Agammaglobulinemia-Dwarfism-Ectodermal Dysplasia Agammaglobulinemia-Thymic Dysplasia-Ectodermal Dysplasia Alopecia-Anosmia-Deafness-Hypogonadism Alopecia-Onychodysplasia-Hypohidrosis Alopecia...
	www.bonebeats.de /Deafnesshypogonadismsyndrome-21969 (177 words)

	Autoimmune Polyendocrine Syndrome Type I (APECED) (Site not responding. Last check: 2007-10-23)
		This disease is known by many names, most commonly as autoimmune polyglandular syndrome type I (APS–I).
		We prefer the name autoimmune polyendocrinopathy-candidiasis–ectodermal dystrophy (APECED), because it reminds of the three groups of components of this disease.
		"Syndrome," implying a consistent set of manifestations not necessarily uniform in etiology, is here in our opinion a misnomer, because as an autosomal recessive condition, this is a disease uniform in etiology but widely variable in manifestation.
	www.eurekah.com /abstract.php?chapid=73&bookid=14&catid=7 (147 words)

	A case of autoimmune polyglandular syndrome type I
		A diagnosis of APS type 1 was made and oral itriconazole, oral calcium lactate and one alpha hydroxylase were given in addition to hydrocortisone and fludrocortisone.
		In our patient the diagnosis of APS type 1 was established by the presence of Addison's disease, mucocutaneous candidiasis and hypoparathyroidism.
		The syndrome of keratoconjunctivitis superficial moniliasis idiopathic hypoparathyroidism and Addison's disease.
	www.medinet.lk /journals/childhealth/2002/june/a-case.htm (784 words)

	[No title] (Site not responding. Last check: 2007-10-23)
		In studies of 16 patients with autoimmune polyendocrinopathy syndrome type I in North America, Heino et al.
		In an Italian family with autoimmune polyendocrinopathy syndrome (240300) and a pattern of inheritance suggestive of a dominant mechanism, Cetani et al.
		A novel mutation of the autoimmune regulator gene in an Italian kindred with autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy, acting in a dominant fashion and strongly cosegregating with hypothyroid autoimmune thyroiditis.
	srs.embl-heidelberg.de:8000 /srs5bin/cgi-bin/wgetz?-e+[omim-id:607358] (3285 words)

	MedicalGeo.com - : Diseases At - B
		A disease is any abnormal condition of the body or mind that causes discomfort, dysfunction, or distress to the person affected or those in contact with the person.
		Sometimes the term is used broadly to include injuries, disabilities, syndromes, symptoms, deviant behaviors, and atypical variations of structure and function, while in other contexts these may be considered distinguishable categories.
		The subject of systematic classification of diseases is referred to as nosology.
	www.medicalgeo.com /Med-Diseases-At---B (83 words)

	apc gene -- apc gene (Site not responding. Last check: 2007-10-23)
		APC The adenomatous polyposis coli (APC) gene is located at chromosome 5q22, and germline mutations of the APC gene are responsible for the syndrome of familial adenomatous polyposis (FAP), and its...
		The classic example is the APC gene on chromosome 5 which underlies the rare dominant syndrome FAP.
		A17=patients (with familial adenomatous polyposis) are born with loss of one copy of the APC gene, on chromosome 5q.
	www.fifapc.com /apcgene (3316 words)

	Gene expression in labor; and more -- press release from PLoS Medicine
		Almost all of nearly 100 APS1 patients studied made large amounts of auto-antibodies that blocked the function of IFN-a and IFN-w.
		(2006) Anti-interferon autoantibodies in autoimmune polyendocrinopathy syndrome type 1.
		Citation: Levin M (2006) Anti-interferon auto-antibodies in Autoimmune Polyendocrinopathy Syndrome Type 1.
	www.eurekalert.org /pub_releases/2006-06/plos-gei060806.php (515 words)

	Suggested links for Autoimmune polyendocrine syndrome type 1 Diseases Database (Site not responding. Last check: 2007-10-23)
		Suggested links for Autoimmune polyendocrine syndrome type 1
		Alternatively return to Autoimmune polyendocrine syndrome type 1 page.
		Content is not asserted complete or error free, please see also our disclaimer.
	www.diseasesdatabase.com /links1.asp?glngUserChoice=29212 (124 words)

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