scholarly journals Co-occurrence of Relapsing Polychondoritis and Autoimmune Thyroid Diseases

2021 ◽  
Author(s):  
Toshiki Nakajima ◽  
Hajime Yoshifuji ◽  
Yoshihisa Yamano ◽  
Kimiko Yurugi ◽  
Yasuo Miura ◽  
...  
Keyword(s):  
Medical Records ◽  
Relapsing Polychondritis ◽  
Hashimoto Thyroiditis ◽  
Autoimmune Thyroid Diseases ◽  
Autoimmune Thyroid ◽  
Genetic Features ◽  
Significant Enrichment ◽  
Recurrent Inflammation ◽  
Genetic Profiles ◽  
Distinct Subtype

Abstract Background: Relapsing polychondritis (RP) is a rare inflammatory disease characterized by recurrent inflammation and destruction of cartilageous tissues. RP has characteristics of autoimmune disease and some reports have noted co-occurrence with autoimmune thyroid disease (AITD), consisting of Graves’ disease (GD) and Hashimoto thyroiditis (HT). However there have been no detailed studies on the co-occurrence of RP and AITD. In this study, we aimed to determine whether patients with RP tend to be complicated with AITD. We also analyzed clinical and genetic profiles of patients in whom these diseases co-occur.Methods: We recruited 117 patients with RP and reviewed their medical records. Furthermore, we genotyped Human Leucocyte Antigen (HLA)-A, B Cw, DRB1, DQB1 and DPB1 alleles for 93 of the 117 patients. The prevalence of AITD among the patients with RP was compared with that among the general Japanese population. We also analyzed the clinical and genetic features of the patients with both RP and AITD.Results: The prevalence of GD among the patients with RP was 4.3% (5 among 117 patients), significantly higher than that among Japanese (0.11%) (p=2.44×10-7, binomial test). RP patients with GD tended to have nasal involvement (p=0.023) (odds ratio (OR) 2.58) and HLA-DPB1*02:02 (p=0.035, OR 10.41). We did not find significant enrichment of HT in patients with RP.Conclusions: Patients with RP appear to be at elevated risk of GD. Nasal involvement and HLA-DPB1*02:02 may characterize the subset of RP patients with GD, which may guide attempts to characterize distinct subtype of RP for precision medicine.

scholarly journals Co-occurrence of Relapsing Polychondoritis and Autoimmune Thyroid Diseases

2021 ◽  
Author(s):  
Toshiki Nakajima ◽  
Hajime Yoshifuji ◽  
Yoshihisa Yamano ◽  
Kimiko Yurugi ◽  
Yasuo Miura ◽  
...  
Keyword(s):  
Medical Records ◽  
Hashimoto Thyroiditis ◽  
Autoimmune Thyroid Diseases ◽  
Autoimmune Thyroid ◽  
General Japanese Population ◽  
Genetic Features ◽  
Significant Enrichment ◽  
Recurrent Inflammation ◽  
Genetic Profiles ◽  
Distinct Subtype

Abstract BackgroundRelapsing polychondritis (RP) is a rare inflammatory disease characterized by recurrent inflammation and destruction of cartilageous tissues. RP has characteristics of autoimmune disease and some reports have noted co-occurrence with autoimmune thyroid disease (AITD), consisting of Graves’ disease (GD) and Hashimoto thyroiditis (HT). However there have been no detailed studies on the co-occurrence of RP and AITD. In this study, we aimed to determine whether patients with RP tend to be complicated with AITD. We also analyzed clinical and genetic profiles of patients in whom these diseases co-occur. MethodsWe recruited 117 patients with RP and reviewed their medical records. Furthermore, we genotyped Human Leucocyte Antigen (HLA)-A, B Cw, DRB1, DQB1 and DPB1 alleles for 93 of the 117 patients. The prevalence of AITD among the patients with RP was compared with that among the general Japanese population. We also analyzed the clinical and genetic features of the patients with both RP and AITD. ResultsThe prevalence of GD among the patients with RP was 4.3% (5 among 117 patients), significantly higher than that among Japanese (0.53%) (p=2.49×10-3, odds ratio (OR) 8.27). RP patients with GD tended to have nasal involvement (p=0.023) (OR 2.58) and HLA-DPB1*02:02 (p=0.035, OR 10.41). We did not find significant enrichment of HT in patients with RP. ConclusionsPatients with RP appear to be at elevated risk of GD. Nasal involvement and HLA-DPB1*02:02 characterize the subset of RP patients with GD, which may guide attempts to characterize distinct subtype of RP for precision medicine.

scholarly journals SLC26A4 Variations Among Graves’ Hyper-Functioning Thyroid Gland

2010 ◽  
Vol 29 (2) ◽  
pp. 63-69 ◽  
Author(s):  
Hassen Hadj-Kacem ◽  
Rihab Kallel ◽  
Salima Belguith-Maalej ◽  
Mouna Mnif ◽  
Ilhem Charfeddine ◽  
...  
Keyword(s):  
Healthy Subjects ◽  
Direct Sequencing ◽  
Autosomal Recessive Disorder ◽  
Hashimoto Thyroiditis ◽  
Autoimmune Thyroid Diseases ◽  
Allelic Variants ◽  
Systematic Analysis ◽  
Autoimmune Thyroid ◽  
Pcr Rflp ◽  
Exon Junctions

Deleterious mutations ofSLC26A4cause Pendred syndrome (PS), an autosomal recessive disorder comprising goitre and deafness with enlarged vestibular aqueducts (EVA), and nonsyndromic hearing loss (NSHL). However, theSLC26A4hyperactivity was recently associated with the emergence of autoimmune thyroid diseases (AITD) and asthma among human and mouse model. Here, by direct sequencing, we investigate the sequences of the 20 coding exons (2 to 21) of SLC26A4 and their flanking intron-exon junctions among patients affected with Graves' disease (GD) hyperthyroidism. Ten mono-allelic variants were identified, seven of which are intronic and previously unreported. Two, c.898A>C (p.I300L) and c.1061T>C (p.F354S), of the three exonic variants are non synonymous. The p.F354S variant is already described to be involved in PS or NSHL inheritances. The exploration by PCR-RFLP of p.I300L and p.F354S variants among 132 GD patients, 105 Hashimoto thyroiditis (HT), 206 Healthy subjects and 102 families with NSHL have shown the presence of both variants. The p.F354S variation was identified both among patients (1~HT and 3 GD) and healthy subjects (n=5). Whereas, the p.I300L variant was identified only in GD patients (n=3). Our studies provide evidence of the importance of systematic analysis ofSLC26A4gene sequences on models other than deafness. This approach allows the identification of new variants and the review of the pathogenic effects of certain mono-allelic variants reported responsible for PS and NSHL development.

scholarly journals Helicobacter pylori Infection and Autoimmune Thyroid Diseases: The Role of Virulent Strains

Antibiotics ◽  
2019 ◽  
Vol 9 (1) ◽  
pp. 12 ◽  
Author(s):  
Natale Figura ◽  
Giovanni Di Cairano ◽  
Elena Moretti ◽  
Francesca Iacoponi ◽  
Annalisa Santucci ◽  
...  
Keyword(s):  
Molecular Mimicry ◽  
Hashimoto Thyroiditis ◽  
Thyroid Diseases ◽  
Infection Prevalence ◽  
Autoimmune Thyroid Diseases ◽  
Autoimmune Thyroid ◽  
Inflammatory Status ◽  
Tnf Α ◽  
Caga Status ◽  
H Pylori

Aim: To verify a possible association between overall H. pylori and CagA+ H. pylori infection and autoimmune thyroid diseases (AITDs). Methods: Consecutive patients with AITDs admitted to one single centre of Endocrinology during one solar year were examined. The diagnoses were Hashimoto thyroiditis (HT) in 76, Graves’ Disease (GD) in 39, and aspecific thyroiditis (AT) in 44 patients. Controls were 136 individuals without AITDs. Median values of fT3, fT4, anti-thyreoglobulin (Tg) antibodies, IL-1β, IL-6, and TNF-α in patients were compared with those in controls. H. pylori infection and CagA status were determined serologically. Structural homology of some thyroid proteins with H. pylori antigens was investigated. Results: H. pylori infection prevalence was significantly increased in GD (66.6%) and HT (64.4%) patients, vs. 29.4% of controls and 34.0% of AT. CagA seropositivity was significantly more frequent in GD (46.1%) and HT (46.9%) infected patients, vs. infected controls (20%). fT3 and fT4 median values were significantly decreased in infected CagA+ GD patients vs. uninfected GD patients. IL-1β median values were increased in patients respect to controls, independently of the clinical form of AITD. Median values of IL-6, TNF-α and anti-Tg autoantibodies in CagA infected patients were significantly higher than those measured in infected CagA− and uninfected patients and in infected CagA+ controls. The examined thyroid proteins shared putative conserved domains with numerous bacterial antigens. Conclusions: Overall H. pylori and CagA+ H. pylori infection were associated with GD and HT, putatively through an increased inflammatory status and molecular mimicry.

Historical Review

2020 ◽  
pp. 1-4
Keyword(s):  
Needle Biopsy ◽  
Historical Review ◽  
Hashimoto Thyroiditis ◽  
Thyroid Disorders ◽  
Historical Overview ◽  
Autoimmune Thyroid Diseases ◽  
Thyroid Cells ◽  
Autoimmune Thyroid ◽  
Japanese Surgeon ◽  
Over Time

Hashimoto thyroiditis (HT) is part of the spectrum of autoimmune thyroid diseases characterized by the destruction of thyroid cells by various cell- and antibody-mediated immune processes. It was first described by the Japanese surgeon Hakaru Hashimoto (1981-1934). It was not until 1956 when a link between antibodies to thyroid cells present in the serum of patients and HT was made. Over time, our understanding of the immunologic pathways involved in HT has evolved. We now recognize the association of this disease with other autoimmune diseases and thyroid cancer. The increasing use of the needle biopsy and serologic tests for antibodies have led to much more frequent recognition, and there is reason to believe that it may be increasing in frequency. It is now one of the most common thyroid disorders. This chapter gives a historical overview of Hashimoto's disease.

Microparticle-enhanced nephelometric immunoassay of anti-thyroid peroxidase autoantibodies in thyroid disorders

1994 ◽  
Vol 40 (3) ◽  
pp. 442-447 ◽  
Author(s):  
A A Harchali ◽  
P Montagne ◽  
J Ruf ◽  
M L Cuillière ◽  
M C Bene ◽  
...  
Keyword(s):  
Monoclonal Antibodies ◽  
Hashimoto Thyroiditis ◽  
Human Thyroid ◽  
Thyroid Peroxidase ◽  
Graves Disease ◽  
Thyroid Disorders ◽  
Autoimmune Thyroid Diseases ◽  
Autoimmune Thyroid ◽  
Human Thyroid Peroxidase ◽  
Antigenic Domains

Abstract Crude thyroid peroxidase extracted from human thyroid microsomes was covalently bound onto polyacrylic and polyfunctional copolymerized microparticles. We observed agglutination of the thyroid peroxidase-microparticle conjugate with 13 monoclonal antibodies (mAbs) specific for epitopes on four different antigenic domains of human thyroid peroxidase (TPO; EC 1.11.1.7), after addition of anti-mouse immunoglobulins. We quantified agglutination by measuring with a specially designed nephelometer the light scattered by the conjugates. This allowed us to develop a microparticle-enhanced nephelometric immunoassay for human anti-TPO autoantibodies (aAbs) with defined epitopic specificity, based on the ability of aAbs to inhibit mAb-induced agglutination. Applied to patients with autoimmune thyroid diseases, this assay confirmed the polyclonality of anti-TPO aAbs and their preferential reactivity toward epitopes located on the A and B antigenic domains of the TPO molecule. The same specificities seem to be present in patients with Hashimoto thyroiditis or Graves disease.

scholarly journals Structural Studies of Thyroid Peroxidase Show the Monomer Interacting With Autoantibodies in Thyroid Autoimmune Disease

Endocrinology ◽  
2020 ◽  
Vol 161 (2) ◽  
Author(s):  
Daniel E Williams ◽  
Sarah N Le ◽  
David E Hoke ◽  
Peter G Chandler ◽  
Monika Gora ◽  
...  
Keyword(s):  
Conformational Changes ◽  
Analytical Ultracentrifugation ◽  
Hashimoto Thyroiditis ◽  
Thyroid Peroxidase ◽  
Autoimmune Thyroid Diseases ◽  
Autoimmune Thyroid ◽  
Negative Stain ◽  
Negative Stain Electron Microscopy ◽  
Membrane Bound ◽  
Dynamics Simulations

Abstract Thyroid peroxidase (TPO) is a critical membrane-bound enzyme involved in the biosynthesis of multiple thyroid hormones, and is a major autoantigen in autoimmune thyroid diseases such as destructive (Hashimoto) thyroiditis. Here we report the biophysical and structural characterization of a novel TPO construct containing only the ectodomain of TPO and lacking the propeptide. The construct was enzymatically active and able to bind the patient-derived TR1.9 autoantibody. Analytical ultracentrifugation data suggest that TPO can exist as both a monomer and a dimer. Combined with negative stain electron microscopy and molecular dynamics simulations, these data show that the TR1.9 autoantibody preferentially binds the TPO monomer, revealing conformational changes that bring together previously disparate residues into a continuous epitope. In addition to providing plausible structural models of a TPO-autoantibody complex, this study provides validated TPO constructs that will facilitate further characterization, and advances our understanding of the structural, functional, and antigenic characteristics of TPO, an autoantigen implicated in some of the most common autoimmune diseases.

scholarly journals Frequency of alleles associated with celiac disease in patients with autoimmune thyroid disease

2021 ◽  
Vol 34 ◽  
Author(s):  
Clédia Silveira Flores da SILVA ◽  
Natalia Rodrigues CARDOZO ◽  
Raíssa ZANATTA ◽  
Augusto SCHNEIDER ◽  
Carlos Castilho de BARROS ◽  
...  
Keyword(s):  
Celiac Disease ◽  
Gastrointestinal Symptoms ◽  
Human Leukocyte ◽  
Thyroid Diseases ◽  
Autoimmune Thyroid Diseases ◽  
Autoimmune Thyroid ◽  
Leukocyte Antigen ◽  
Polymerase Chain ◽  
Genetic Profiles

ABSTRACT Objective To determine the frequency of Human leukocyte antigen alleles and to verify the association of the presence of these alleles with symptoms and other diseases related to celiac disease in patients with autoimmune thyroid diseases. Methods A questionnaire on the symptoms and diseases associated with celiac disease was applied. Genomic deoxyribonucleic acid was extracted by collecting cells from the oral mucosa. The alleles (DQA1*0501; DQB1*0201; DRB1*04) were identified by means of the polymerase chain reaction. Results A total of 110 patients with autoimmune thyroid diseases participated in this study. It was observed that 66.4% of the individuals carried at least one of the alleles assessed and that 58.2% of the individuals were positive for at least one of the DQ2 alleles (DQA1*0501; DQB1*0201) and out of these 18.2% were positive for both DQ2 alleles (DQA1*0501; DQB1*0201). With regard to DQ8 (DRB1*04), 21.8% of the studied population was positive for this allele and 3.6% was positive for both DQ2 (DQA1*0501; DQB1*0201) and DQ8 (DRB1*04). A significant association was found between the presence of the DRB1*04 allele and gastrointestinal symptoms (p=0.02). A significant association of the DRB1*04 allele with type 1 diabetes mellitus (p=0.02) was observed. Conclusion The genetic profiles most commonly associated with celiac disease, such as DQ2 (DQA1*0501; DQB1*0201) and DQ8 (DRB1*04) were around 20.0% prevalent in the studied population. These are risk haplotypes for celiac disease especially when symptoms and diseases related to celiac disease are present. Therefore, it is important to screen patients to investigate a potential diagnosis for celiac disease.

scholarly journals Management of severe Graves’ hyperthyroidism in pregnancy following immune reconstitution therapy in multiple sclerosis

2021 ◽  
Author(s):  
Sara Salehi Hammerstad ◽  
Elisabeth G Celius ◽  
Henrik Husby ◽  
Ingvild M Sørensen ◽  
Ingrid E Norheim
Keyword(s):  
Multiple Sclerosis ◽  
Hashimoto Thyroiditis ◽  
Newborn Baby ◽  
Graves Disease ◽  
Autoimmune Thyroid Diseases ◽  
Autoimmune Thyroid ◽  
Normal Thyroid Function ◽  
Increased Risk ◽  
Neonatal Thyrotoxicosis

Abstract Context Alemtuzumab (ALZ), a CD52 monoclonal antibody, is highly efficacious in multiple sclerosis; however, side effects are common. Autoimmune thyroid diseases (Graves’ disease and Hashimoto thyroiditis) is a well-known complication of ALZ. Treatment of ALZ induced Graves’ disease can be challenging, and even more difficult during pregnancy. Case description We present a case of severe ALZ induced Graves’ disease with a rapid increase in TSH receptor antibodies (TRAb 240 IU/L) and thyrotoxicosis in early pregnancy. Treatment with high doses of anti-thyroid medication was needed. There was high risk of both fetal and neonatal thyrotoxicosis. Serial fetal sonography showed normal development. The newborn baby presented high levels of TRAb (240 IU/L) and developed neonatal thyrotoxicosis on day eight. Adequate monitoring, treatment, and follow up of the newborn baby ensured normal thyroid function until disappearance of TRAb, 6 weeks after birth. Conclusion MS patients treated with ALZ may develop severe Graves’ disease with an increased risk of both fetal and neonatal thyrotoxicosis. Close follow up with a multidisciplinary approach is needed to ensure a healthy outcome.

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