Polyglandular Autoimmune Disease and HLA

Abstract

We have studied 25 patients with polyglandular autoimmune disease with respect to HLA antigens. Whereas the combination of insulin dependent diabetes with Graves’disease or atrophic thyroiditis was associated with an increase in HLA–B8, this was not found to be the case for patients with I.D.D.M. and goitrous thyroiditis. However 4/7 of these patients were DRw3 positive in contrast to previously established normal distribution of HLA–B8 in patients with goitrous thyroiditis alone. These data suggest that patients with polyglandular failure may be highly selected for HLA‐B8/DRw3 positivity. We also report on two families with polyglandular autoimmune disease; the results suggest that these disorders are not necessarily transmitted with B8/DRw3 bearing haplotypes. In one family both the affected mother and non‐affected father were B8 positive. The mother's B8, which was associated with DRw7, BfF and Rga did not appear to be involved in the transmission of disease susceptibility to two affected offspring. The search for complete haplotypic arrangement should be pursued to see whether this uncommon haplotype arrangement is peculiar to autoimmune diseases.

Determination of HLA class II risk alleles and prediction of self/non-self epitopes contributing Hashimotoˈs thyroiditis in a group of Iranian patients

“…This study involved the analysis of HLA class II alleles, genotypes, and haplotypes in 100 patients with Hashimoto's Thyroiditis (HT) and 330 ethnically matched healthy individuals. Our ndings are in line with similar studies conducted in Caucasian [33], Hungarian [34], and Italian [35] Notably, within the DR3/DRX and DR4/DRX diplotypes, DR3/DR11 and DR4/DR11 were identi ed as two signi cantly predisposing diplotypes in our patients. Conversely, the potentially protective diplotype was DRX/DR13.…”

Petrified pinna and pericarditis in autoimmune polyendocrine syndrome

“…APS is broadly categorised into a rare and monogenic form of disease APS type 1 (APS 1) and a more common polygenic form of disease APS type 2 (APS 2). A more conventional classification by Farid et al 2 have classified APS into four types namely types 1–4. It is a more descriptive approach of classification and does not reflect the current knowledge of biology.…”

Genetic Dissection of Autoimmune Polyendocrine Syndrome Type 2

“…In fact, the coexistence of different organ‐specific and systemic autoimmune diseases within families and overlapping genetic associations with the human leukocyte antigen (HLA) locus or other genes support the notion of common pathogenetic mechanisms underlying autoimmunity 5 . This is paradigmatically highlighted by the autoimmune polyendocrine syndromes (APS) 6–10 . Thus, the occurrence of multiple organ‐specific autoimmune diseases in APS1 can be attributed to the pleiotropic effect of one gene, the autoimmune regulator (AIRE) 9,12 .…”

“…5 This is paradigmatically highlighted by the autoimmune polyendocrine syndromes (APS). [6][7][8][9][10] Thus, the occurrence of multiple organspecific autoimmune diseases in APS1 can be attributed to the pleiotropic effect of one gene, the autoimmune regulator (AIRE). 9,12 While the genetic basis of APS1 has been elucidated, the genetic causes underlying the much more frequent APS2 remain obscure.…”