APS1

THE ENDOCRINE SYSTEM is responsible for the release of hormones into the blood or lymph.

Deficiencies in the endocrine system can be caused by infection, infarction or a tumor destroying all or a large part of the gland. However, the activity of an endocrine organ is most often depressed as a result of an autoimmune reaction that ultimately results in partial or complete destruction of the gland.

Autoimmune disease affecting one organ is frequently followed by the impairment of other glands, resulting in multiple endocrine failure.

Autoimmune polyglandular syndrome type I (APS1, also called APECED) is a rare autosomal recessive disorder that maps to human chromosome 21. At the end of 1997, researchers reported that they isolated a novel gene, which they called AIRE (autoimmune regulator)

Database searches revealed that the protein product of this gene is a transcription factor - a protein that plays a role in the regulation of gene expression. The researchers showed that mutations in this gene are responsible for the pathogenesis of APS1.

The identification of the gene defective in APS1 is the first step towards developing tests that will be able to genetically diagnose the disease. Further investigations of the gene and it's function should also facilitate finding a potential treatment for the disease as well as increasing our general understanding of the mechanisms underlying other autoimmune diseases.

Autoimmune polyglandular syndrome

The endocrine system is responsible for the release of hormones into the blood or lymph. Deficiencies in the endocrine system can be caused by infection, infarction, or a tumor destroying all or a large part of the gland. However, the activity of an endocrine organ is most often depressed as a result of an autoimmune reaction that ultimately results in partial or complete destruction of the gland. Autoimmune disease affecting one organ is frequently followed by the impairment of other glands, resulting in multiple endocrine failure.
Autoimmune polyglandular syndrome type I (APS1, also called APECED) is a rare autosomal recessive disorder that maps to human chromosome 21. At the end of 1997, researchers reported that they isolated a novel gene, which they called AIRE (autoimmune regulator). Database searches revealed that the protein product of this gene is a transcription factor -- a protein that plays a role in the regulation of gene expression. The researchers showed that mutations in this gene are responsible for the pathogenesis of APS1.
The identification of the gene defective in APS1 is the first step toward developing tests that will be able to genetically diagnose the disease. Further investigations of the gene and its function should also facilitate finding a potential treatment for the disease as well as increasing our general understanding of the mechanisms underlying other autoimmune diseases.
Source: NCBI

"Polyglandular autoimmune syndromes (PAS) are a group of disorders in which multiple endocrine glands make insufficient amounts of hormones." MayoClinic definition

Diseases of the Immune System

The immune system is a complex and highly developed system, yet its mission is simple: to seek and kill invaders. If a person is born with a severely defective immune system, death from infection by a virus, bacterium, fungus or parasite will occur. In severe combined immunodeficiency, lack of an enzyme means that toxic waste builds up inside immune system cells, killing them and thus devastating the immune system. A lack of immune system cells is also the basis for DiGeorge syndrome: improper development of the thymus gland means that T cell production is diminished.

Most other immune disorders result from either an excessive immune response or an 'autoimmune attack'. Asthma, familial Mediterranean fever and Crohn's disease (inflammatory bowel disease) all result from an over-reaction of the immune system, while autoimmune polyglandular syndrome and some facets of diabetes are due to the immune system attacking 'self' cells and molecules.

A key part of the immune system's role is to differentiate between invaders and the body's own cells - when it fails to make this distinction, a reaction against 'self' cells and molecules causes autoimmune disease.

Blood and Lymph Diseases * Image blood.jpg

Anemia, sickle cell
Burkitt lymphoma
Gaucher disease
Hemophilia A
Leukemia, chronic myeloid
NiemannPick disease
Paroxysmal nocturnal hemoglobinuria
Porphyria
Thalassemia

Cancers
Breast and ovarian cancer
Burkitt lymphoma
Colon cancer
Leukemia, chronic myeloid
Lung carcinoma, small cell
Malignant melanoma
Multiple endocrine neoplasia
Neurofibromatosis
The p53 tumor suppressor protein
Pancreatic cancer
Polycystic kidney disease
Prostate cancer
Harvey Ras oncogene
Retinoblastoma
Tuberous sclerosis
Von Hippel-Lindau syndrome

The Digestive System
Colon cancer
Crohn's disease
Cystic fibrosis
Diabetes, type 1
Glucose galactose malabsorption
Pancreatic cancer
Wilson's disease
Zellweger syndrome

Ear, Nose, and Throat
Deafness
Neurofibromatosis
Pendred syndrome

Diseases of the Eye
Best disease
Glaucoma
Gyrate atrophy of the choroid and retina
Retinoblastoma

Female-Specific Diseases
Breast and ovarian cancer
Rett syndrome

Glands and Hormones
Adrenal hyperplasia, congenital
Adrenoleukodystrophy adreno
Autoimmune polyglandular syndrome
Breast and ovarian cancer
Cockayne syndrome
Diabetes, type 1
Diastrophic dysplasia
Multiple endocrine neoplasia
Pendred syndrome

The Heart and Blood Vessels
Ataxia telangiectasia
Atherosclerosis
Long QT syndrome
Von Hippel-Lindau syndrome
Williams syndrome

Diseases of the Immune System
Asthma
Ataxia telangiectasia
Autoimmune polyglandular syndrome
Burkitt lymphoma
Diabetes, type 1
DiGeorge syndrome
Immunodeficiency with hyper-IgM
Leukemia, chronic myeloid
Severe combined immunodeficiency

Male-Specific Diseases
Alport syndrome
Male pattern baldness
Prostate cancer
SRY: Sex determination

Muscle and Bone
Achondroplasia
Amyotrophic lateral sclerosis
CharcotMarieTooth syndrome
Cockayne syndrome
Diastrophic dysplasia
Duchenne muscular dystrophy
Ellis-van Creveld syndrome
Fibrodysplasia ossificans progressiva
Marfan syndrome
Myotonic dystrophy

Neonatal Diseases
Achondroplasia
Angelman syndrome
Cockayne syndrome
Cystic fibrosis
DiGeorge syndrome
Fragile X syndrome
Marfan syndrome
Prader-Willi syndrome
Severe combined immunodeficiency
Waardenburg syndrome
Werner syndrome
Williams syndrome
Zellweger syndrome

The Nervous System
Adrenoleukodystrophy
Alzheimer disease
Amyotrophic lateral sclerosis
Angelman syndrome
Ataxia telangiectasia
CharcotMarieTooth syndrome
Cockayne syndrome
Deafness
Duchenne muscular dystrophy
Epilepsy
Essential tremor
Familial Mediterranean fever
Fragile X syndrome
Friedreich's ataxia
Gaucher disease
Huntington disease
Lesch-Nyhan syndrome
Maple syrup urine disease
Menkes syndrome
Myotonic dystrophy
Narcolepsy
Neurofibromatosis
NiemannPick disease
Parkinson disease
Phenylketonuria
Prader-Willi syndrome
Refsum disease
Rett syndrome
Spinal muscular atrophy
Spinocerebellar ataxia
Tangier disease
Tay-Sachs disease
Tuberous sclerosis
Von Hippel-Lindau syndrome
Williams syndrome
Wilson's disease
Zellweger syndrome

Nutritional and Metabolic Diseases
Adrenoleukodystrophy
Diabetes, type 1
Gaucher disease
Glucose galactose malabsorption
Hereditary hemochromatosis
Lesch-Nyhan syndrome
Maple syrup urine disease
Menkes syndrome
NiemannPick disease
Obesity
Pancreatic cancer
Phenylketonuria
Prader-Willi syndrome
Porphyria
Refsum disease
Tangier disease
Tay-Sachs disease
Wilson's disease
Zellweger syndrome

Respiratory Diseases
Alpha-1-antitrypsin deficiency
Asthma
Cystic fibrosis
Lung carcinoma, small cell

Skin and Connective Tissue connective
Male pattern baldness
Diastrophic dysplasia
Ellis-van Creveld syndrome
Marfan syndrome
Malignant melanoma
Menkes syndrome
Porphyria

Chromosome Map
Chromosome 1
Chromosome 2
Chromosome 3
Chromosome 4
Chromosome 5
Chromosome 6
Chromosome 7
Chromosome 8
Chromosome 9
Chromosome 10
Chromosome 11
Chromosome 12
Chromosome 13
Chromosome 14
Chromosome 15
Chromosome 16
Chromosome 17
Chromosome 18
Chromosome 19
Chromosome 20
Chromosome 21
Chromosome 22
Chromosome X
Chromosome Y
Source - Short versions - NCBI