Plant homeodomain (PHD) fingers are often present in chromatin-binding proteins and have been shown to bind histone H3 N-terminal tails. Mutations in the autoimmune regulator (AIRE) protein, which harbours two PHD fingers, cause a rare monogenic disease, autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED). AIRE activates the expression of tissue-specific antigens by directly...

?By T. A. Lloyd Davles, M.D. (Lond.)> M.R.C.P. (Lond.). 1948. J. and A. Churchill Limited, London. Pp. vil plus 244. Illustrated. Price, 15s. This medium-sized book on industrial medicine is a poem on men, machines and dignity of labour. 'No machine can be greater than the man who works it and no nation can be greater than its citizen, and the world cannot be greater than the nations '. Of scie...

Systemic lupus erythematosus (SlE) and autoimmune polyendocrinopathy are characterized by autoantibodies against a variety of target organs. Traditional treatment strategies for immune cytopenias include global immunosuppression that targets both the humoral and cell-mediated arms of the immune system. B-cells play an important role in the pathogenesis of many autoimmune diseases. Targeted depl...

TOPIC: Critical Care TYPE: Fellow Case Reports INTRODUCTION: Autoimmune polyglandular syndromes (APS) are rare polyendocrinopathies characterized by loss of immune tolerance to self-antigens leading autoimmune destruction endocrine glands and other tissues. APS is classified into types 1, 2, 3 4. Type recognized absence adrenal insufficiency. type 3b (APS3b) specifically comprises the associati...

Autoimmune regulator (AIRE) is an important transcription regulator that mediates a role in central tolerance via promoting the "promiscuous" expression of tissue-specific Ags in the thymus. Although several mouse models of Aire deficiency have been described, none has analyzed the phenotype induced by a mutation that emulates the common 13-bp deletion in human APECED (autoimmune polyendocrinop...

Autoimmune polyendocrinopathy with candidiasis and ectodermal dystrophy (APECED) is a rare disorder of immune dysregulation caused by mutations in the autoimmune regulator (AIRE) gene. Individuals affected with APECED develop a clinical syndrome characterized by ectodermal abnormalities, autoantibody production, and organ-specific autoimmune manifestations. Inflammatory arthritis is usually not...

A woman of 40, 6 feet in height and 16 stones in weight, had complained of severe abdominal pain for three days when she was admitted to hospital on 23 August 1952. She had been married less than a year but, menstruation having been erratic all her life, often occurring only twice a year, she did not know if she was pregnant. The diagnosis of ruptured ectopic gestation was obvious but she was i...

1. Chen QY, Lan Ms, she JX, Maclaren NK. the gene responsible for autoimmune polyglandular syndrome type 1 maps to chromosome 21q22.3 in us patients. J Autoimmun 1998;11:177-183. 2. Halonen M, Eskelin P, Myhre Ag, et al. AIRE mutation and human leukocyte antigen genotypes as determinants of the autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy phenotype. J Clin Endocrinol Metab 199...

BACKGROUND Autoimmune polyendocrinopathy candidiasis ectodermal dystrophy (APECED) is a rare autosomal recessive disorder caused by mutations of the autoimmune regulator (AIRE) gene, whose loss of function leads to the escape of self-reactive T cells from the thymus and autoimmunity. APECED patients typically develop tissue-specific autoantibodies and anti-cytokine antibodies. Consequently, var...

Autoimmune polyglandular syndrome (APs) type 2 is characterized by the presence of Addison's disease, in association with autoimmune thyroid disease and/or type 1 diabetes mellitus and is rare in children. A 12.5 yr old prepubertal boy presented with symptoms related to Addison's disease and a large goiter. He was euthyroid with positive thyroid antibodies, low cortisol, aldosterone and very hi...