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NALP1 in vitiligo-associated multiple autoimmune disease

Article Abstract:

A study performed fine-scale genetic association and deoxyribonucleic acid (DNA) sequence analyses in 114 families with vitiligo and associated autoimmune and autoinflammatory diseases in order to identify the autoimmunity susceptibility gene on chromosome 17p13. Findings suggest DNA sequence variants in the NALP1 region are associated with the risk of several epidemiologically associated diseases, implicating innate immune system in the pathogenesis of these disorders.

Author: Spritz, Richard A., Ying Jin, Mailloux, Christina M., Gowan, Katherine, Riccardi, Sheri L., LaBerge, Greggory, Bennett, Dorothy C., Fain, Pamela R.
Publisher: Massachusetts Medical Society
Publication Name: The New England Journal of Medicine
Subject: Health
ISSN: 0028-4793
Year: 2007
Care and treatment

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Autoimmune polyendocrine syndrome type 1 and NALP5, a parathyroid autoantigen

Article Abstract:

A study to determine the role of AIRE, the autoimmune regulator gene that could be the cause of autoimmune polyendocrine syndrome type 1 (APS-1) and role of NALP5 autoantibodies is conducted. Results reveal that NALP5 was a tissue-specific autoantigen, which caused a manifestation of hypoparathyroidism in patients with APS-1.

Author: Peltonen, Leena, Perheentupa, Jaakko, Hollander, Georg A., Alimohammadi, Mohammad, Bjorklund, Peyman, Hallgren, Asa, Pontynen, Nora, Szinnai, Gabor, Shikama, Noriko, Keller, Marcel P., Ekwall, Olov, Kinkel, Sarah A., Husebye, Eystein S., Gustafsson, Jan, Rorsman, Fredrik, Betterle, Corrado, Akerstrom, Goran, Westin, Gunnar, Scott, Hamish S., Kampe, Ollev
Publisher: Massachusetts Medical Society
Publication Name: The New England Journal of Medicine
Subject: Health
ISSN: 0028-4793
Year: 2008
Science & research, Research, Genetic regulation, Antigens, Hypoparathyroidism, Clinical report

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Medical progress: autoimmune polyendocrine syndromes

Article Abstract:

Details about the autoimmune polyendocrine syndromes are presented. It includes monogenic disorders and genetic disorders.

Author: Eisenbarth, George S., Gottlieb, Peter A.
Publisher: Massachusetts Medical Society
Publication Name: The New England Journal of Medicine
Subject: Health
ISSN: 0028-4793
Year: 2004
Development and progression, Genetic disorders

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Subjects list: United States, Diagnosis, Genetic aspects, Autoimmune diseases
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