scholarly journals New Murine Model of Early Onset Autoimmune Thyroid Disease/Hypothyroidism and Autoimmune Exocrinopathy of the Salivary Gland

2016 ◽  
Vol 197 (6) ◽  
pp. 2119-2130 ◽  
Author(s):  
Timothy Daniel Kayes ◽  
Gary A. Weisman ◽  
Jean M. Camden ◽  
Lucas T. Woods ◽  
Cole Bredehoeft ◽  
...  
Keyword(s):  
Salivary Gland ◽  
Murine Model ◽  
Thyroid Disease ◽  
Early Onset ◽  
Autoimmune Thyroid Disease ◽  
Autoimmune Thyroid ◽  
Autoimmune Exocrinopathy

Simultaneous early-onset immune thrombocytopenia and autoimmune thyroid disease following alemtuzumab treatment in relapsing-remitting multiple sclerosis

2016 ◽  
Vol 22 (9) ◽  
pp. 1235-1241 ◽  
Author(s):  
Mark Obermann ◽  
Tobias Ruck ◽  
Steffen Pfeuffer ◽  
Julia Baum ◽  
Heinz Wiendl ◽  
...  
Keyword(s):  
Multiple Sclerosis ◽  
Thyroid Disease ◽  
Early Onset ◽  
Immune Thrombocytopenia ◽  
Autoimmune Thyroid Disease ◽  
Severe Thrombocytopenia ◽  
Autoimmune Thyroid ◽  
Relapsing Remitting ◽  
Remitting Multiple Sclerosis ◽  
Relapsing Remitting Multiple Sclerosis

Objective: We report two cases of patients with relapsing-remitting multiple sclerosis with early-onset thrombocytopenia and autoimmune thyroid disease after the first treatment course with 60-mg alemtuzumab. Methods: Case series and review of the literature. Results: Both patients showed severe thrombocytopenia with platelet counts of 2 × 109 and 11 × 109/L, respectively, as well as increased thyroid antibodies within only a few months after initiating alemtuzumab treatment (11 and 9 months). Both patients responded considerably well to medical therapy including corticosteroids and intravenous immunoglobulins with slow platelet recovery over several weeks. Interestingly, both patients were previously treated with fingolimod and showed a marked lymphocytopenia that led to discontinuation. Conclusion: These cases emphasize the necessity of careful clinical surveillance and proper education of patients treated with alemtuzumab as proposed by the safety-monitoring program. Previous severe lymphocytopenia under therapy with other disease-modifying therapies may be a risk factor for the development of immune thrombocytopenia.

scholarly journals Ocular surface and salivary gland involvement in patients with autoimmune thyroid disease

2015 ◽  
Vol 74 (1) ◽  
Author(s):  
Flavia Pelinsari Lana ◽  
Carolina Ramos Mosena ◽  
Maria Emilia Xavier dos Santos Araújo
Keyword(s):  
Salivary Gland ◽  
Ocular Surface ◽  
Thyroid Disease ◽  
Autoimmune Thyroid Disease ◽  
Autoimmune Thyroid

scholarly journals HLA alleles, especially amino-acid signatures of HLA-DPB1, might contribute to the molecular pathogenesis of early-onset autoimmune thyroid disease

PLoS ONE ◽  
2019 ◽  
Vol 14 (5) ◽  
pp. e0216941 ◽  
Author(s):  
Dong-Hwan Shin ◽  
In-Cheol Baek ◽  
Hyung Jae Kim ◽  
Eun-Jeong Choi ◽  
Moonbae Ahn ◽  
...  
Keyword(s):  
Amino Acid ◽  
Thyroid Disease ◽  
Early Onset ◽  
Autoimmune Thyroid Disease ◽  
Molecular Pathogenesis ◽  
Hla Alleles ◽  
Autoimmune Thyroid

scholarly journals Clinical Relevance of Gain- and Loss-of-Function Germline Mutations in STAT1: A Systematic Review

2021 ◽  
Vol 12 ◽  
Author(s):  
Wenjing Zhang ◽  
Xuemei Chen ◽  
Guodong Gao ◽  
Shubin Xing ◽  
Lina Zhou ◽  
...  
Keyword(s):  
Systematic Review ◽  
Respiratory Tract ◽  
Thyroid Disease ◽  
Early Onset ◽  
Autoimmune Thyroid Disease ◽  
Respiratory Tract Infections ◽  
Germline Mutations ◽  
Autoimmune Thyroid ◽  
Therapeutic Choice ◽  
Tract Infections

Background: Germline mutations in signal transducer and activator of transcription 1 (STAT1), which lead to primary immunodeficiency, are classified as defects in intrinsic and innate immunity. To date, no comprehensive overview comparing GOF with LOF in early-onset immunodeficiency has been compiled.Objective: To collect and systematically review all studies reporting STAT1 GOF and LOF cases, and to describe the clinical, diagnostic, molecular, and therapeutic characteristics of all the conditions.Methods: A systematic review of the PubMed, EMBASE, Web of Science, Scopus, and Cochrane to identify articles published before May 23, 2020. Data pertaining to patients with a genetic diagnosis of STAT1 GOF or LOF germline mutations, along with detailed clinical data, were reviewed.Results: The search identified 108 publications describing 442 unique patients with STAT1 GOF mutations. The patients documented with chronic mucocutaneous candidiasis (CMC; 410/442), lower respiratory tract infections (210/442), and autoimmune thyroid disease (102/442). Th17 cytopenia was identified in 87.8% of those with GOF mutations. Twenty-five patients with GOF mutations received hematopoietic stem cell transplantation (HSCT), and 10 died several months later. Twelve of 20 patients who received JAK inhibitor therapy showed improved symptoms. Twenty-one publications described 39 unique patients with STAT1 LOF mutations. The most common manifestations were Mendelian susceptibility to mycobacterial diseases (MSMD) (29/39), followed by osteomyelitis (16/39), and lymphadenopathy (9/39). Missense, indel, and frameshift mutations were identified as LOF mutations. There were no obvious defects in lymphocyte subsets or immunoglobulin levels. Eighteen patients required antimycobacterial treatment. Three patients received HSCT, and one of the three died from fulminant EBV infection.Conclusions: STAT1 GOF syndrome is a clinical entity to consider when confronted with a patient with early-onset CMC, bacterial respiratory tract infections, or autoimmune thyroid disease as well as Th17 cytopenia and humoral immunodeficiency. HSCT is still not a reasonable therapeutic choice. Immunoglobulin replacement therapy and JAK inhibitors are an attractive alternative. STAT1 LOF deficiency is a more complicated underlying cause of early-onset MSMD, osteomyelitis, respiratory tract infections, and Herpesviridae infection. Anti-mycobacterial treatment is the main therapeutic choice. More trials are needed to assess the utility of HSCT.

Besondere Manifestationsformen der Autoimmunthyreopathie

Praxis ◽  
2002 ◽  
Vol 91 (27) ◽  
pp. 1151-1160
Author(s):  
Fajfr ◽  
Müller
Keyword(s):  
Thyroid Disease ◽  
Autoimmune Thyroid Disease ◽  
Chromosome 6 ◽  
Autoimmune Thyroid

Les maladies thyroïdiennes auto-immunes ou immunes (autoimmune thyroid disease, AITD) sont relativement fréquentes. Le terme de AITD comprend les thyréodites euthyroidiennes ou hypothyroïdiennes de Hashimoto avec ou sans goitre, les hyperthyroïdies classiques de Basedow et leurs variantes nettement plus rares euthyroïdiennes ou hypothyroïdiennes. Aucune des nombreuses classifications des AITD n'a pu s'imposer sur le plan international. La pathogénèse de toutes les formes d'AITD comprend une perturbation de la tolérance immune chez les individus prédisposés génétiquement (séquence HLA-DQAI*0501 sur le bras court du chromosome 6) qui provoque un processus auto-immun contre la glande thyroïdienne. Ces processus sont soit destructeurs ou inhibiteurs, soit stimulateurs, ce qui permet d'expliquer les formes très différentes de AITD. Dans de cas rares, ces processus peuvent se contrebalancer («balance hypotheseis»). Les anticorps anti-récepteurs TPO et TSH (TRAK) ont une place particulière dans le diagnostic des AITD. Les dosages de routine utilisent pour la mesure des TRAK des récepteurs qui ne peuvent pas différencier entre les anticorps stimulants ou bloquants contre les récepteurs TSH. C'est, entre autre pour ces raisons, que les résultats d'anticorps positifs ne sont utilisables qu'en connaissance de la clinique et / ou des paramètres de la fonction thyroïdienne. Ce travail présente quatre patients avec des formes plus complexes d'AITD et résume les connaissances actuelles.

Sarcoidosis and autoimmune thyroid disease

Pneumologie ◽  
2012 ◽  
Vol 66 (11) ◽  
Author(s):  
C Ravaglia ◽  
C Gurioli ◽  
M Romagnoli ◽  
G Casoni ◽  
S Tomassetti ◽  
...  
Keyword(s):  
Thyroid Disease ◽  
Autoimmune Thyroid Disease ◽  
Autoimmune Thyroid
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