| polyendocrinopathy | A disease usually caused by insufficiency of multiple endocrine glands. See: multiple endocrine deficiency syndrome. (05 Mar 2000) |
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| anaemia, haemolytic, autoimmune | Acquired haemolytic anaemia due to the presence of autoantibodies which agglutinate or lyse the patient's own red cells. (12 Dec 1998) |
| autoimmune | <immunology> Pertaining to autoimmunity. (02 Jan 1998) |
| autoimmune disease | <disease> A disease process that involves the production of host antibodies to host tissue. (27 Sep 1997) |
| autoimmune diseases | Are illnesses which occur when the body tissues are attacked by its own immune system. The immune system is a complex organisation within the body that is designed normally to seek and destroy invaders of the body, particularly infections. Patients with these diseases have unusual antibodies in their blood that target their own body tissues. (12 Dec 1998) |
| autoimmune haemolytic anaemia | <haematology> A condition that results from the cellular destruction (haemolysis) of red blood cells due to antibodies formed to components on the surface of the red blood cells. Origin: Gr. Haima = blood (02 Jan 1998) |
| autoimmune hepatitis | <pathology> A type of chronic active hepatitis that results from circulating auto-antibodies and chronic inflammation of the liver. Symptoms are those of chronic active hepatitis. (27 Sep 1997) |
| autoimmune thrombocytopenia purpura | <haematology> A rare autoimmune disorder characterised by an acute shortage of platelets with resultant bruising and spontaneous bleeding. The platelet count becomes exceedingly low and spontaneous bleeding from the gums, gastrointestinal tract and nose can be seen. Physical examination may demonstrate enlargement of the spleen. A typical rash occurs to do microscopic haemorrhage of small blood vessels in the skin. Platelet counts under 10,000 can lead to spontaneous haemorrhage into the brain causing death. Treatment with corticosteroids is generally effective. Surgical removal of the spleen (splenectomy) is reserved for some patients. Anti-platelet antibodies are detectable in some cases. It may present in either an acute or a chronic form. Acronym: ITP (20 Sep 2002) |
| autoimmune thyroiditis | <endocrinology> Inflammation of the thyroid gland without the formation of pus. Noninfectious nonbacterial thyroid inflammation. (27 Sep 1997) |
| polyendocrinopathies, autoimmune | Autoimmune disease affecting multiple endocrine organs. Type I is characterised by childhood onset and mucocutaneous candidiasis, while type II exhibits any combination of adrenal insufficiency (addison's disease), lymphocytic thyroiditis, hypoparathyroidism, and gonadal failure. In both types organ-specific antibodies against a variety of endocrine glands have been detected. The type II syndrome differs from type I in that it is associated with HLA-a1 and b8 haplotypes, onset is usually in adulthood, and candidiasis is not present. (12 Dec 1998) |
| hepatitis, autoimmune | An unresolving, predominately periportal, hepatitis, usually with hypergammaglobulinaemia and serum autoantibodies. The existence of subgroups (types 1, 2, and 3) based on serological findings are controversial. Additionally, some patients have variant forms, where there are features associated with both autoimmune hepatitis and another type of chronic liver disease (overlap syndromes) or where there are findings incompatible with autoimmune hepatitis (outlier syndromes). (12 Dec 1998) |
| systemic autoimmune diseases | A group of connective tissue disease's characterised by the presence of autoantibodies responsible for immunopathologically mediated tissue lesions; systemic lupus erythematosus is the prototype. (05 Mar 2000) |
| thyroiditis, autoimmune | A progressive disease of the thyroid gland with antibodies in the blood stream directed against the thyroid and infiltration of the gland by lymphoctes (a key type of white blood cells involved in the immune response). This immune response is against one's own thyroid. (it is autoimmune.) predominantly affects women. Can be familial. Also called hashimoto's disease or hashimoto's thyroiditis. (12 Dec 1998) |
| Aarskog-Scott syndrome | A syndrome of ocular hypertelorism, anteverted nostrils, broad upper lip, saddle-bag scrotum, and laxity of ligaments resulting in genu recurvatum, flat feet, and hyperextensible fingers; X-linked and autosomal dominant forms. Synonym: Aarskog-Scott syndrome. (05 Mar 2000) |
| Aarskog syndrome | <syndrome> Grier et al. (1983) reported father and 2 sons with typical Aarskog syndrome, including short stature, hypertelorism, and shawl scrotum. They tabulated the findings in 82 previous cases. X-linked recessive inheritance has been repeatedly suggested. The family reported by Welch (1974) had affected males in 3 consecutive generations. Thus, there is either genetic heterogeneity or this is an autosomal dominant with strong sex-influence and possibly ascertainment bias resulting from use of the shawl scrotum as a main criterion. Stretchable skin was present in the cases of Grier et al. (1983). Teebi et al. (1993) reported the case of an affected mother and 4 sons (including a pair of monozygotic twins) by 2 different husbands. They suggested that the manifestations were as severe in the mother as in the sons and that this suggested autosomal dominant inheritance. Actually, the mother seemed less severely affected, compatible with X-linked inheritance. Clinical signs: Mild to moderate short stature,normocephaly, Widow's peak hair, maxillary hypoplasia, broad nasal bridge, anteverted nostrils, long philtrum, broad upper lip, curved linear dimple below the lower lip, hypertelorism, ptosis, down-slanted palpebral fissures, ophthalmoplegia, strabismus, hyperopic astigmatism, large cornea, floppy ears, lop-ears,cleft lip/palate, shawl scrotum, saddle-bag scrotum, cryptorchidism, brachydactyly, digital contractures, clinodactyly, mild syndactyly, transverse palmar crease, lymphoedema of the feet, ligamentous laxity, osteochondritis dissecans, proximal finger joint hyperextensibility, flexed distal finger joints, genu recurvatum, flat feet, stretchable skin, cervical spine hypermobility, odontoid anomaly, macrocytic anaemia, hemochromatosis, hepatomegaly, portal cirrhosis, imperforate anus, rectoperineal fistula, interstitial pulmonary disease, sternal deformity. Inheritance: Sex-influenced autosomal dominant form, also X-linked form. (05 Aug 1998) |