Autoimmune polyendocrine syndrome type 2: Difference between revisions

In terms of genetics one finds that autoimmune polyendocrine syndrome type 2 has an [[autosomal dominant]] pattern of inheritance, with an incomplete penetrance.<ref>{{Cite journal|last=Betterle|first=Corrado|last2=Dal Pra|first2=Chiara|last3=Mantero|first3=Franco|last4=Zanchetta|first4=Renato|date=2002-06-01|title=Autoimmune Adrenal Insufficiency and Autoimmune Polyendocrine Syndromes: Autoantibodies, Autoantigens, and Their Applicability in Diagnosis and Disease Prediction|journal=Endocrine Reviews|volume=23|issue=3|pages=327–364|doi=10.1210/edrv.23.3.0466|pmid=12050123|issn=0163-769X|doi-access=free}}</ref><ref>{{Cite web|url=https://omim.org/entry/269200|title=OMIM Entry - % 269200 - AUTOIMMUNE POLYENDOCRINE SYNDROME, TYPE II; APS2|website=omim.org|language=en-us|access-date=2017-04-13}}</ref> Furthermore, the [[human leukocyte antigen]] involved in this condition are HLA-DQ2(DR3 (DQB*0201)) and HLA-DQ8(DR4 (DQB1*0302)),<ref>{{cite journal|last1=Majeroni|first1=BA|last2=Patel|first2=P|title=Autoimmune polyglandular syndrome, type II.|journal=American Family Physician|date=1 March 2007|volume=75|issue=5|pages=667–70|pmid=17375512|url=http://www.aafp.org/afp/2007/0301/p667.html|accessdate=13 April 2017|language=en}}</ref> ''genetically speaking'', which indicates this is a multifactorial disorder, as well.<ref name=gard/><ref>{{Cite web|url=https://ghr.nlm.nih.gov/primer/mutationsanddisorders/complexdisorders|title=What are complex or multifactorial disorders?|last=Reference|first=Genetics Home|website=Genetics Home Reference|language=en|access-date=2017-04-19}}</ref>

The condition was recognized by [[Martin Benno Schmidt]] (1863 &ndash; 1949), a German pathologist, first described in 1926.<ref>{{cite book|last1=Eisenbarth|first1=George S.|title=Immunoendocrinology: Scientific and Clinical Aspects|date=2011|publisher=Springer Science & Business Media|isbn=9781603274784|page=143|url=https://books.google.com/?id=JYbDzAjBnHoC&pg=PA143&dq=Autoimmune+polyendocrine+syndrome+type+2#v=onepage&q=Autoimmune%20polyendocrine%20syndrome%20type%202&f=false|accessdate=13 April 2017|language=en}}</ref> A third subtype, PAS III, has been described in adults, but apart from the absence of adrenal failure, no clinical differences between types II and III have been described. Because of this, both of these subtypes are generally referred to as PAS II.<ref>{{Cite journal|last=Kahaly|first=George J.|last2=Dittmar|first2=Manuela|date=2003-07-01|title=Polyglandular Autoimmune Syndromes: Immunogenetics and Long-Term Follow-Up|journal=The Journal of Clinical Endocrinology & Metabolism|language=en|volume=88|issue=7|pages=2983–2992|doi=10.1210/jc.2002-021845|pmid=12843130|issn=0021-972X|doi-access=free}}</ref><ref>{{Cite journal|last=Kahaly|first=George J.|date=2009-07-01|title=Polyglandular autoimmune syndromes|journal=European Journal of Endocrinology|language=en-US|volume=161|issue=1|pages=11–20|doi=10.1530/EJE-09-0044|pmid=19411300|issn=1479-683X|doi-access=free}}</ref>