ALLMedicine™ Autoimmune Polyglandular Syndrome Type 1 Center
Research & Reviews 27 results
BMC Endocrine Disorders; Chen J, Lu T et. al.
Aug 5th, 2021 - Autoimmune polyendocrine syndrome type 1 (APS-1) is a rare monogenic inherited disease caused by mutations of the autoimmune regulator gene (AIRE). The three major components of this syndrome are chronic mucocutaneous candidiasis, hypoparathyroidi...
https://doi.org/10.1007/s40618-021-01585-6 10.1056/NEJM199006283222601 10.1016/S1571-5078(07)00212-7 10.1056/NEJMra1713301 10.1016/j.autrev.2017.11.012 10.1136/jmg.29.11.824 10.1210/jc.2006-1873 10.1111/j.1399-0004.2006.00690.x 10.1515/JPEM.2006.19.11.1343 10.1016/j.lpm.2012.10.005 10.1515/JPEM.2004.17.6.917 10.1210/edrv.23.3.0466 10.1111/j.1365-2796.2009.02090.x 10.1590/S0004-27302012000100009 10.1016/j.autrev.2010.08.019 10.1016/j.coi.2016.07.003 10.1111/imm.12831 10.1111/j.1365-2265.2008.03318.x 10.3389/fimmu.2013.00331 10.1086/302145 10.1007/s004390050891 10.1210/jcem.83.4.4682 10.1002/humu.1178 10.1530/EJE-08-0328 10.1530/EJE-07-0843 10.1111/j.1365-2265.2009.03740.x 10.1210/jc.2017-00139 10.1530/EC-17-0022 10.1016/j.clim.2018.09.012 10.1007/s004390050846 10.1210/mend.12.8.0143 10.1530/eje.0.1430497 10.1210/jcem.86.10.7884 10.1210/jcem.87.2.8209 10.1210/jc.2002-021495 10.1007/BF03345295 10.1111/j.1365-2265.2008.03206.x 10.1007/s00431-007-0599-4 10.1016/j.clim.2010.12.021 10.1210/jc.2011-2461 10.1016/j.gene.2012.03.032 10.1159/000363537 10.1111/j.1365-2796.2009.02090.x 10.1111/j.1365-2265.2010.03862.x 10.1097/01.mpg.0000239739.09983.38 10.1056/NEJMoa0706487 10.3389/fendo.2018.00463 10.1182/asheducation-2017.1.181 10.1016/j.clml.2012.06.006 10.1016/S0025-6196(12)61377-9 10.1177/039463201002300331 10.1111/j.1365-2265.2008.03340.x 10.1530/EJE-08-0550 10.1210/clinem/dgaa140 10.1530/EJE-18-0313 10.1007/s40618-019-01079-6 10.1016/j.fertnstert.2005.04.060 10.1210/jc.2011-0414 10.1111/cei.12303 10.1210/jc.2012-2734 10.1016/j.clim.2015.03.012 10.1111/j.1749-6632.2002.tb02986.x 10.1001/jama.2019.21565 10.3390/ijms17071106 10.1002/humu.20224 10.1016/j.immuni.2015.04.021 10.1111/imm.12831
Journal of Endocrinological Investigation; Garelli S, Dalla Costa M et. al.
May 19th, 2021 - Autoimmune Polyglandular Syndrome type 1 (APS-1) is a rare recessive inherited disease, caused by AutoImmune Regulator (AIRE) gene mutations and characterized by three major manifestations: chronic mucocutaneous candidiasis (CMC), chronic hypopara...
BMJ Case Reports; Sanjeevi A, Asirvatham AR et. al.
Apr 29th, 2021 - A 45-year-old woman presented to us with a short-term history of nausea, vomiting and giddiness. On arrival at our hospital, examination revealed postural hypotension. Fluid resuscitation with intravenous normal saline was commenced. She also had ...
BMC Medical Genomics; Ruan J, Wang X et. al.
Jan 21st, 2021 - Pure red cell aplasia (PRCA) and large granular lymphocytic leukaemia (LGLL) are very rare complications of autoimmune polyendocrine syndrome type 1 (APS1). Here, we report a case of APS1 with PRCA and LGLL. Previous cases were reviewed, and possi...
BMC Ophthalmology; Wu PY, Chang HW et. al.
Jan 9th, 2021 - Autoimmune polyglandular syndrome type 1 (APS-1) is a rare autosomal recessive disease. In patients with APS-1, the most frequently reported ocular manifestations are keratoconjunctivitis with dry eye and retinal degeneration. However, to our know...
News 4 results
Jul 31st, 2019 - A group of scientists from leading institutions is questioning the findings of a prominent immunology article linked to a strategic drug development partnership potentially worth up to €164 million ($183 million). The original article, published i...
Oct 1st, 2016 - The deadline has been extended to October 21 to submit letters of intent and abstracts for National Organization for Rare Disorders (NORD) research grants for studies related to the following rare diseases: Alveolar capillary dysplasia with misali.
Sep 1st, 2016 - NORD has announced its 2016 requests for proposals for research studies related to the following rare diseases: Alveolar capillary dysplasia with misalignment of the pulmonary veins (ACD/MPV) Appendix cancer and pseudomyxoma peritonei (PMP) Autoim.
Jul 6th, 2015 - The National Organization for Rare Disorders (NORD) has posted requests for proposals (RFPs) for grants to support research on several rare diseases. July 31, 2015, will be the deadline to submit abstracts and letters of intent.