scholarly journals A nonsense mutation in exon 2 of the DNase I gene is not present in UK subjects with systemic lupus erythematosus and Graves' disease: Comment on the article by Rood et al

2002 ◽  
Vol 46 (11) ◽  
pp. 3109-3110 ◽  
Author(s):  
Matthew J. Simmonds ◽  
Joanne M. Heward ◽  
M. Ann Kelly ◽  
Amit Allahabadia ◽  
Helen Foxall ◽  
...  
2006 ◽  
Vol 66 (4) ◽  
pp. 560-561 ◽  
Author(s):  
A. Bodano ◽  
A. Gonzalez ◽  
E. Balada ◽  
J. Ordi ◽  
P. Carreira ◽  
...  

2013 ◽  
Vol 26 (1) ◽  
pp. 217-222 ◽  
Author(s):  
E. Melcescu ◽  
E.H. Kemp ◽  
V. Majithia ◽  
V. Vijayakumar ◽  
G.I. Uwaifo ◽  
...  

Data on coexisting Graves' disease (GD), hypoparathyroidism, and systemic lupus erythematosus (SLE) are limited. The thyroid and parathyroid glands may be extra sensitive to irradiation damage in an underlying autoimmune condition. A 34-year-old black woman presented with tetanic-like cramps, easy skin bruising, fatigue, weight gain, nocturia and back pain. She was previously diagnosed with GD in 2001 and underwent radioiodine therapy (RAI) in 9/01 using 6 mCi. PostRAI (November 2001) she developed hypocalcemia and hypothyroidism (2/02). In 2007, SLE was diagnosed. In October 2009, s-calcium and PTH were still low at 7.1 mg/dl and 9 pg/mL, respectively, although the patient denied symptoms on vitamin D and calcium supplementation. To identify possible autoimmune damage of the parathyroids, we evaluated the presence of activating antibodies to the CaSR and also analyzed the DNA sequence of all 6 translated exons and flanking intronic sequences of her CaSR gene for a functionally significant CaSR mutation but neither was positive. The initial autoimmune damage to her thyroid and possibly parathyroid glands followed by irradiation of them seems to have contributed to her developing both hypoparathyroidism (11/01) and hypothyroidism (2002). The patient could potentially have had parathyroid autoantibodies in 2001 that disappeared by 2009 when she was tested for them. We consider that the multiple autoimmune conditions developed over the past decade of her life with the concurrent irradiation contributing to her brittle hypoparathyroidism. Select patients with GD and perhaps parathyroid autoantibodies with a slowly developing destructive impact on the parathyroid glands may then develop overt hyoparathyroidism with rather low dose RAI ablation. This patient adds to the evolving spectrum of polyglandular syndrome variants.


2021 ◽  
Vol 5 (Supplement_1) ◽  
pp. A930-A930
Author(s):  
Andrés Alberto Gómez-Noronha ◽  
Eddy López-Huamanrayme ◽  
Carmen Cecilia Quiroa-Alfaro

Abstract Background: Graves’ disease is the most common cause of hyperthyroidism triggered by antibodies called thyroid-stimulating immunoglobulin (TSI) which stimulates an overproduction of thyroid hormones. Evans’ syndrome is a rare condition characterized by autoimmune hemolytic anemia and immune thrombocytopenic purpura. Systemic lupus erythematosus (SLE) is also an autoimmune disease with extreme heterogeneity and potentially involvement of any organ or system. It is well known when a patient is diagnosed with an autoimmune disease, it is about time to show up other manifestations of another one, just as it happened in this case report. Clinical Case: A 31-year-old pregnant woman (22 weeks) was admitted to the obstetric emergency room due to headaches, weakness and tinnitus. During anamnesis, she said she was diagnosed with hypertension several weeks before she was pregnant. At physical examination, a 160/100 mm/Hg blood pressure and a heart rate over 100 bpm were found. Initial tests were solicited congruent with severe thrombocytopenia (20 000/mm3) and severe anemia (6 gr/dl), there was also a modest increase in transaminases levels. Transfusion support was needed and a “HELLP syndrome” was diagnosed. Gynecologists decided to perform an emergency hysterotomy and the end of pregnancy. During the post-operative care and the following days, the patient persisted with an average of 100 bpm heart rate and hypertension despite of the use of antihypertensive medication. Physicians also noticed the presence of malar rash and goiter. Thyroid hormones levels where requested and the results were consistent with primary hyperthyroidism (TSH: <0.005 Mu/L, FT4: >100 pmol/L). Further tests were required such as TSI (positive), a thyroid scintigraphy (high thyroid uptake), antinuclear antibodies (ANA: + 1/160 speckled pattern, anti- Smith: +) and extractable nuclear antigen antibodies (ENA) panel. Grave’s disease and SLE were diagnosed. Rheumatologists suggested that the diagnosis of HELLP Syndrome was unclear and they strongly believed that thrombocytopenia and anemia during pregnancy were part of Evans’s syndrome and at the same time of SLE. Antithyroid drugs (thiamazol), beta blockers (propranolol) hydroxychloroquine and corticoids (prednisone) were given to the patient with an excellent clinical and biochemical response. Conclusion: A 25% of patients with SLE can be diagnosed with an autoimmune thyroid disease, such as Graves’ disease (1). Frequent evaluation of thyroid hormones and antithyroid antibodies should be performed in patients with SLE, especially when there are related symptoms of a thyroid disorder. References: 1.Chan AT, Al-Saffar Z, Bucknall RC. Thyroid disease in systemic lupus erythematosus and rheumatoid arthritis. Rheumatology (Oxford). 2001;40:353---4.


Oncotarget ◽  
2017 ◽  
Vol 8 (54) ◽  
pp. 91876-91886 ◽  
Author(s):  
Isidro Alemán-Ávila ◽  
Mayra Jiménez-Morales ◽  
Olga Beltrán-Ramírez ◽  
Rosa Elda Barbosa-Cobos ◽  
Silvia Jiménez-Morales ◽  
...  

2021 ◽  
Author(s):  
Nageen Hussain ◽  
Syeda Aneela ◽  
Noor Aqsa ◽  
Talib Hussain ◽  
Muhammad Ahmad Saeed

Abstract Systemic Lupus Erythematosus (SLE) is one of autoimmune disorders. It is thought that the deregulation in the inflammatory markers is due to problem in Forkhead box family member (FOXP3) which is involved in tolerance mechanism. One cannot ignore the role of cytokine-mediated signaling pathways like IL-22. This study was done in the Lahore. Pakistan. The main objective of the study was to monitor the patients of SLE. The purpose was to check the alliance of FoxP3 and IL-22 gene polymorphism. Sixty samples (n = 60) were collected from different hospitals of Lahore. DNA was extracted from EDTA anticoagulated blood of SLE patients. After DNA extraction, IL-22 and FoxP3 genes were polymerized through PCR and further sequenced through Sanger Sequencing method. The FOXP3 exon 2 and three SNPs in IL-2 i.e. rs2227491, rs2227485 and rs2227513 which were already identified were confirmed by Chromas 2.6. The mutations were checked with the help of Nucleotide Blast. Our observation showed that there are nine mutations in studied genotyped samples. The frequency of mutation was 27.27%. Allele T in rs2227485 and, allele C in rs2227513 and rs2227491 was identified in the study predominantly. These 9 mutations were found in case of IL-22 gene. No mutation was observed in Exon 2 of FOXP3 gene in SLE patients. It is concluded that that there may be any association between IL-22 gene polymorphism and SLE but FOXP3 gene was not tangled in the progression of SLE in Lahore population.


2003 ◽  
Vol 48 (11) ◽  
pp. 3297-3298 ◽  
Author(s):  
Pampa Chakraborty ◽  
Hassen Hadj Kacem ◽  
Kauothar Makni-Karray ◽  
Fai�al Jarraya ◽  
Jamil Hachicha ◽  
...  

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