Polyglandular Autoimmune Disease and HLA

Farid, Nadir R.; Larsen, Bodil; Payne, R. H.; Noel, Elke P.; Sampson, Laura

doi:10.1111/j.1399-0039.1980.tb00284.x

Cited by 31 publications

(4 citation statements)

References 26 publications

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“…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.…”

Section: Discussionsupporting

confidence: 93%

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

Shirizadeh,

Borzouei,

Razavi

et al. 2024

Immunogenetics

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One of the probable hypotheses for the onset of autoimmunity is molecular mimicry. This study aimed to determine the HLA-II risk alleles for developing Hashimoto s thyroiditis (HT) in order to analyze the molecular homology between candidate pathogen-derived epitopes and potentially self-antigens (TPO) based on the presence of HLA risk alleles. HLA-DRB1/-DQB1 genotyping was performed in 100 HT patients and 330 ethnically matched healthy controls to determine the predisposing/protective HLA alleles for HT disease in our population. Then, insilico analysis was carried out to examine the sequence homology between epitopes derived from autoantigens and four potentially relevant pathogens and their binding capacity for HLA risk alleles based on peptide docking analysis. We identi ed HLA-DRB1*03:01, *04:02, *04:05 and *11:04 as predisposing alleles and DRB1*13:01 as potentially predictive allele for HT disease. Also, DRB1*11:04 ~ DQB1*03:01 (Pc = 0.002, OR:3.97) and DRB1*03:01 ~ DQB1*02:01 (Pc = 0.004, OR:2.24) haplotypes conferred a predisposing role for HT. Based on logistic regression analysis, carrying risk alleles increased the risk of HT development 4.5 times in our population (P = 7.09E-10). Also, ROC curve analysis revealed a high predictive power of those risk alleles in discrimination of susceptible from healthy individuals (AUC: 0.70, P = 6.6E-10). Analysis of peptide sequence homology between epitopes of TPO and epitopes derived from four candidate microorganisms revealed a homology between envelop glycoprotein D of herpes virus and sequence 151-199 of TPO with remarkable binding capacity to HLA-DRB1*03:01 allele. Our ndings indicate the increased risk of developing HT in those individual carrying HLA risk alleles which can also be related to herpes virus infection.

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Section: Discussionsupporting

confidence: 93%

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

Shirizadeh,

Borzouei,

Razavi

et al. 2024

Immunogenetics

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“…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.…”

Section: Discussionmentioning

confidence: 99%

Petrified pinna and pericarditis in autoimmune polyendocrine syndrome

Sedhai¹,

Basnyat

2019

BMJ Case Rep

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Petrified pinna refers to the calcification or ossification of the external auricular cartilage. It is an uncommon clinical entity and is most often associated with local trauma, frostbite or inflammation. Auricular calcification may be the exclusive cutaneous marker of underlying endocrinopathy. It has been most commonly associated with adrenal insufficiency and other endocrine conditions like diabetes mellitus, hypothyroidism and acromegaly. We present a 47-year-old Caucasian manwho presented with acute pericarditis with tamponade physiology, who was found to have petrified pinnae as a telltale sign of the underlying autoimmune polyendocrine syndrome type 2.

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“…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 .…”

Section: Introductionmentioning

confidence: 99%

“…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.…”

Section: Introductionmentioning

confidence: 99%

Genetic Dissection of Autoimmune Polyendocrine Syndrome Type 2

Ballarini

Lee‐Kirsch

2007

Annals of the New York Academy of Sciences

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Autoimmune diseases constitute a heterogeneous group of disorders characterized by the loss of immune tolerance to self-antigens. Despite their distinct clinical picture, there is growing evidence that common molecular mechanisms may contribute to the whole spectrum of autoimmune diseases. This theory is strongly supported by the existence of the autoimmune polyendocrine syndromes (APS). Thus, the clinical diagnosis of APS1 is made in an individual who presents with at least two out of three cardinal symptoms, namely autoimmune Addison's disease, autoimmune hypoparathyroidism, and mucocutaneous candidiasis. APS1 is a rare autosomal recessive syndrome caused by mutations in the autoimmune regulator (AIRE) gene. APS2, which occurs at a much higher frequency, is classically defined as the coexistence of autoimmune Addison's disease, autoimmune thyroid disease, and/or type 1 diabetes. In contrast to APS1, the precise modes of inheritance and the genetic causes underlying APS2 remain unknown. Identification of genetic factors predisposing to this syndrome may contribute to our understanding of common mechanisms involved in autoimmunity.

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Polyglandular Autoimmune Disease and HLA

Cited by 31 publications

References 26 publications

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

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

Petrified pinna and pericarditis in autoimmune polyendocrine syndrome

Genetic Dissection of Autoimmune Polyendocrine Syndrome Type 2

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