Academic Journal
Recessively inherited LRBA mutations cause autoimmunity presenting as neonatal diabetes
| العنوان: | Recessively inherited LRBA mutations cause autoimmunity presenting as neonatal diabetes |
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| المؤلفون: | Johnson, MB, De Franco, E, Lango Allen, H, Al Senani, A, Elbarbary, N, Siklar, Z, Berberoglu, M, Imane, Z, Haghighi, A, Razavi, Z, Ullah, I, Alyaarubi, S, Gardner, D, Ellard, S, Hattersley, AT, Flanagan, SE |
| بيانات النشر: | American Diabetes Association |
| سنة النشر: | 2017 |
| المجموعة: | University of Exeter: Open Research Exeter (ORE) |
| الوصف: | This is the author accepted manuscript. The final version is available from the American Diabetes Association via the DOI in this record. ; The following erratum was published on 5 January 2018 at DOI 10.2337/db18-er03b Erratum. Recessively Inherited LRBA Mutations Cause Autoimmunity Presenting as Neonatal Diabetes. Diabetes 2017;66:2316–2322 Matthew B. Johnson; Elisa De Franco; Hana Lango Allen; Aisha Al Senani; Nancy Elbarbary; Zeynep Siklar; Merih Berberoglu; Zineb Imane; Alireza Haghighi; Zahra Razavi; Irfan Ullah; Saif Alyaarubi; Daphne Gardner; Sian Ellard; Andrew T. Hattersley; Sarah E. Flanagan In the article listed above, Ayla Güven, of the Pediatric Endocrinology Clinic, Göztepe Educational and Research Hospital, Istanbul, Turkey, was erroneously omitted from the author list. Dr. Güven recruited patients, provided clinical information, and contributed to discussion. The authors apologize for this unfortunate omission. The online version of the article (https://doi.org/10.2337/db17-0040) has been updated to correct this omission. ; Young-onset autoimmune diabetes associated with additional autoimmunity usually reflects a polygenic predisposition, but rare cases result from monogenic autoimmunity. Diagnosing monogenic autoimmunity is crucial for patients' prognosis and clinical management. We sought to identify novel genetic causes of autoimmunity presenting with neonatal diabetes (NDM) (diagnosis <6 months). We performed exome sequencing in a patient with NDM and autoimmune lymphoproliferative syndrome and his unrelated, unaffected parents and identified compound heterozygous null mutations in LRBA Biallelic LRBA mutations cause common variable immunodeficiency-8; however, NDM has not been confirmed in this disorder. We sequenced LRBA in 169 additional patients with diabetes diagnosed <1 year without mutations in the 24 known NDM genes. We identified recessive null mutations in 8 additional probands, of which, 3 had NDM (<6 months). Diabetes was the presenting feature in 6 of 9 probands. Six of ... |
| نوع الوثيقة: | article in journal/newspaper |
| اللغة: | English |
| Relation: | https://www.ncbi.nlm.nih.gov/pubmed/28473463; https://doi.org/10.2337/db18-er03b; Vol. 66 (8), pp. 2316 - 2322; http://hdl.handle.net/10871/28841; Diabetes |
| DOI: | 10.2337/db17-0040 |
| الاتاحة: | http://hdl.handle.net/10871/28841 https://doi.org/10.2337/db17-0040 |
| Rights: | © 2017 by the American Diabetes Association. http://www.diabetesjournals.org/content/license Readers may use this article as long as the work is properly cited, the use is educational and not for profit, and the work is not altered. More information is available at http://www.diabetesjournals.org/content/license. |
| رقم الانضمام: | edsbas.ED03CF50 |
| قاعدة البيانات: | BASE |
| DOI: | 10.2337/db17-0040 |
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