The association of HLA-DQA1*0401 and DQB1*0604 with thymomatous myasthenia gravis in northern Chinese patients

Yang, Hongwei; Hao, Junwei; Peng, Xiaolin; Simard, Alain R.; Zhang, Mingyi; Xie, Yanyan; Wang, Shuhui

doi:10.1016/j.jns.2011.08.023

Cited by 19 publications

(6 citation statements)

References 37 publications

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“…HLA-DQB1 forms a part of the dimeric HLA-DQ molecule 44 . HLA-DQB1*06:04 has previously been implicated in myasthenia gravis in the Chinese 45 as well as cervical dystonia 46 . Conditional analysis shows that the HLA-DQB1*06:04 signal is fully explained by the missense variant rs17412833, but indicates that the association of rs17412833 is not explained by the HLA-DQB1*06:04 signal.…”

Section: Resultsmentioning

confidence: 99%

Common and rare variants associating with serum levels of creatine kinase and lactate dehydrogenase

et al. 2016

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Creatine kinase (CK) and lactate dehydrogenase (LDH) are widely used markers of tissue damage. To search for sequence variants influencing serum levels of CK and LDH, 28.3 million sequence variants identified through whole-genome sequencing of 2,636 Icelanders were imputed into 63,159 and 98,585 people with CK and LDH measurements, respectively. Here we describe 13 variants associating with serum CK and 16 with LDH levels, including four that associate with both. Among those, 15 are non-synonymous variants and 12 have a minor allele frequency below 5%. We report sequence variants in genes encoding the enzymes being measured (CKM and LDHA), as well as in genes linked to muscular (ANO5) and immune/inflammatory function (CD163/CD163L1, CSF1, CFH, HLA-DQB1, LILRB5, NINJ1 and STAB1). A number of the genes are linked to the mononuclear/phagocyte system and clearance of enzymes from the serum. This highlights the variety in the sources of normal diversity in serum levels of enzymes.

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Section: Resultsmentioning

confidence: 99%

Common and rare variants associating with serum levels of creatine kinase and lactate dehydrogenase

et al. 2016

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“…Finally, no consistent positive association has been described between HLA and thymomatous MG [40,44,50,51,54]. Though several studies have described different associations with both class I (A*24, A*25) and class II (DRB1*10, DQA1*04, DQB1*06) HLA alleles; these results were never reproduced, statistical analyses were not corrected for multiple comparisons, histological types of the thymomas were heterogeneous, and genotyping usually was not complete [43,47,53,62,63].…”

Section: Myasthenia Gravismentioning

confidence: 98%

Associations between HLA and autoimmune neurological diseases with autoantibodies

Muñiz‐Castrillo

Vogrig

Honnorat

2020

Autoimmun Highlights

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Recently, several autoimmune neurological diseases have been defined by the presence of autoantibodies against different antigens of the nervous system. These autoantibodies have been demonstrated to be specific and useful biomarkers, and most of them are also pathogenic. These aspects have increased the value of autoantibodies in neurological practice, as they enable to establish more accurate diagnosis and to better understand the underlying mechanisms of the autoimmune neurological diseases when they are compared to those lacking them. Nevertheless, the exact mechanisms leading to the autoimmune response are still obscure. Genetic predisposition is likely to play a role in autoimmunity, HLA being the most reported genetic factor. Herein, we review the current knowledge about associations between HLA and autoimmune neurological diseases with autoantibodies. We report the main alleles and haplotypes, and discuss the clinical and pathogenic implications of these findings.

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“…Thus, in thymoma patients the function of self-tolerance is lost, prompting autoimmune manifestations. Moreover, the compromised expression of HLA-DR molecules in neoplastic thymocytes increases levels of HLA-A24 and HLA-B8, which are associated with an enhanced likelihood of autoimmune manifestations (25)(26)(27). Remarkably, the emerging correlation between a given HLA and irAEs highlights the potential relevance of the genetic background in predicting both immune side effects (28) and clinical efficacy (29).…”

Section: Discussionmentioning

confidence: 99%

Case Report: Lymphocytosis Associated With Fatal Hepatitis in a Thymoma Patient Treated With Anti-PD1: New Insight Into the Immune-Related Storm

et al. 2020

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Recent advances in tumor immunotherapy have made it possible to efficiently unleash immune effectors, reacting against neoplastic cells. Although these approaches primarily aim to eradicate malignancy, immune-related adverse events (irAEs) often influence patients’ prognosis, constituting a new spectrum of side effects. Taking into account the typical microenvironment and the intricate equilibrium between the anti-tumor response and the immune cells, the thymoma constitutes a unicum in the immune-oncology field. We report a fatal immune-mediated adverse events’ storm in a thymoma patient treated with Pembrolizumab, leading to hepatotoxicity accompanied by lymphocytosis, thrombocytopenia, and thyroid dysfunction, unveiling a novel potential pathophysiological effect of immunotherapy. The clinical proficiency of the immune checkpoint inhibitors in thymoma patients warrants timely prevention and management of off-target consequences in order to optimize this promising therapeutic option. This case report describes a unique consequence of irAEs, emerging as a red flag warranting a multidisciplinary approach.

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The association of HLA-DQA10401 and DQB10604 with thymomatous myasthenia gravis in northern Chinese patients

Cited by 19 publications

References 37 publications

Common and rare variants associating with serum levels of creatine kinase and lactate dehydrogenase

Common and rare variants associating with serum levels of creatine kinase and lactate dehydrogenase

Associations between HLA and autoimmune neurological diseases with autoantibodies

Case Report: Lymphocytosis Associated With Fatal Hepatitis in a Thymoma Patient Treated With Anti-PD1: New Insight Into the Immune-Related Storm

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