80:
48:
270:
1088:
339:
999:
984:
965:
1134:
227:
240:
gene on the X chromosome. Most patients develop diabetes and diarrhea and many die due to autoimmune activity against many organs. Boys are affected, while girls are carriers and might experience mild disease.
735:
619:
1254:
1127:
1120:
1733:
1247:
786:
170:, although non-endocrine organs can be affected. There are three types of APS, and there are a number of other diseases which involve endocrine autoimmunity.
1240:
1868:
853:
Improda, Nicola; Capalbo, Donatella; Cirillo, Emilia; Cerbone, Manuela; Esposito, Andrea; Pignata, Claudio; Salerno, Mariacarolina (1 November 2014).
727:
611:
1816:
1811:
1412:
1165:
1160:
765:
213:
179:
96:
91:
1767:
1589:
1192:
641:"Immunodysregulation, polyendocrinopathy and enteropathy X-linked | Genetic and Rare Diseases Information Center (GARD) – an NCATS Program"
1187:
1182:
1014:
907:
855:"Cutaneous vasculitis in patients with autoimmune polyendocrine syndrome type 1: report of a case and brief review of the literature"
1584:
917:
640:
582:
1443:
322:
1579:
1625:
1487:
496:
1482:
1221:
395:
1705:
1858:
1762:
1177:
671:"Clinical and molecular features of the immunodysregulation, polyendocrinopathy, enteropathy, X linked (IPEX) syndrome"
1853:
1664:
1467:
1695:
1373:
583:"Autoimmune polyglandular syndrome type 2 | Genetic and Rare Diseases Information Center (GARD) – an NCATS Program"
1725:
1548:
327:
1639:
1408:
1394:
1028:
220:
syndrome due to multifactorial gene involvement resulting in adrenal insufficiency plus hypothyroidism and/or
1863:
1512:
1275:
1643:
1103:
757:
195:
249:
Each "type" of this condition has a different genetic cause. IPEX syndrome is inherited in males by an
1801:
1796:
1780:
1690:
1620:
1477:
1389:
56:
1823:
1003:
183:
79:
556:
530:
1828:
1710:
1700:
1594:
1492:
1472:
1309:
1267:
1172:
250:
231:
217:
191:
17:
1520:
1112:
1530:
1525:
1325:
1314:
1039:
978:
933:
913:
894:
876:
831:
823:
780:
708:
690:
512:
476:
363:
116:
68:
974:
800:
Weiler, Fernanda GuimarĂŁes; Dias-da-Silva, Magnus R.; Lazaretti-Castro, Marise (2012-02-01).
1574:
1508:
1425:
1420:
1361:
1288:
1263:
884:
866:
813:
698:
682:
504:
466:
428:"Type I Polyglandular Autoimmune Syndrome: Practice Essentials, Background, Pathophysiology"
1232:
557:"Type II Polyglandular Autoimmune Syndrome: Practice Essentials, Pathophysiology, Etiology"
1715:
1685:
1569:
1497:
1351:
1304:
1204:
1144:
221:
167:
427:
306:
For this condition, differential diagnosis sees that the following should be considered:
1093:
648:
590:
1599:
1553:
1346:
889:
854:
703:
670:
47:
1008:
1847:
1774:
1366:
101:
73:
818:
801:
283:
of this condition for example, sees that the following methods/tests are available:
1669:
1459:
1341:
1330:
1068:
531:"Type III Polyglandular Autoimmune Syndrome: Background, Pathophysiology, Etiology"
351:
342:
199:
159:
1033:
758:"Orphanet: Immune dysregulation polyendocrinopathy enteropathy X linked syndrome"
1356:
1336:
1320:
802:"Autoimmune polyendocrine syndrome type 1: case report and review of literature"
387:
258:
207:
63:
gene, which causes autoimmune polyendocrine syndrome type 1 when non-functional)
1071:
1044:
937:
338:
993:
287:
269:
163:
880:
871:
827:
694:
1214:
1209:
1063:
455:"Polyglandular Autoimmune Syndromes: Immunogenetics and Long-Term Follow-Up"
898:
835:
712:
516:
480:
471:
454:
1199:
686:
508:
494:
Eisenbarth GS, Gottlieb PA (2004). "Autoimmune polyendocrine syndromes".
261:
location is Xp11.23, is involved in the mechanism of the IPEX condition.
203:
1279:
292:
273:
957:
942:
1648:
988:
969:
316:
669:
Wildin, R. S.; Smyk-Pearson, S.; Filipovich, A. H. (1 August 2002).
348:
Immunosuppressive therapy may be used in type I of this condition.
228:
Immunodysregulation polyendocrinopathy enteropathy X-linked syndrome
1615:
1283:
236:
1022:
1019:
310:
1236:
1116:
906:
Shoenfeld, Yehuda; Cervera, Ricard; Gershwin, M. Eric (2008).
806:
459:
The
Journal of Clinical Endocrinology & Metabolism
354:
can also be used for type I under certain conditions.
947:
1789:
1755:
1746:
1724:
1678:
1657:
1638:
1608:
1562:
1547:
1506:
1458:
1451:
1437:
1407:
1382:
1297:
1274:
1054:
951:
125:
115:
107:
87:
67:
37:
32:
1734:Transfusion-associated graft-versus-host disease
1248:
1128:
8:
453:Dittmar, Manuela; Kahaly, George J. (2003).
785:: CS1 maint: numeric names: authors list (
1752:
1654:
1559:
1455:
1434:
1294:
1255:
1241:
1233:
1135:
1121:
1113:
948:
909:Diagnostic Criteria in Autoimmune Diseases
78:
46:
29:
912:. Springer Science & Business Media.
888:
870:
817:
702:
470:
41:Autoimmune polyglandular syndromes (APSs)
337:
268:
214:Autoimmune polyendocrine syndrome type 2
180:Autoimmune polyendocrine syndrome type 1
111:FOXP3 gene is involved in the mechanism
1768:Allergic bronchopulmonary aspergillosis
375:
778:
422:
420:
418:
416:
414:
412:
1590:Post-streptococcal glomerulonephritis
756:RESERVED, INSERM US14 -- ALL RIGHTS.
7:
381:
379:
152:polyendocrine autoimmune syndromes
144:polyglandular autoimmune syndromes
136:Autoimmune polyendocrine syndromes
25:
1807:Autoimmune polyendocrine syndrome
1156:Autoimmune polyendocrine syndrome
1104:Autoimmune polyendocrine syndrome
33:Autoimmune polyendocrine syndrome
18:Autoimmune polyglandular syndrome
1869:Diseases of immune dysregulation
1444:Hemolytic disease of the newborn
1086:
323:Severe combined immunodeficiency
186:syndrome due to mutation of the
158:), are a heterogeneous group of
1626:Subacute bacterial endocarditis
1488:Immune thrombocytopenic purpura
819:10.1590/S0004-27302012000100009
768:from the original on 2017-04-19
738:from the original on 2017-04-17
622:from the original on 2017-04-17
398:from the original on 2017-04-17
166:activity against more than one
1:
1706:Postorgasmic illness syndrome
1143:Disorders involving multiple
1763:Hypersensitivity pneumonitis
1178:Multiple endocrine neoplasia
1829:Systemic autoimmune disease
1665:Allergic contact dermatitis
1585:Hypersensitivity vasculitis
1468:Autoimmune hemolytic anemia
675:Journal of Medical Genetics
1885:
1335:common allergies include:
726:Reference, Genetics Home.
386:Reference, Genetics Home.
1222:Woodhouse–Sakati syndrome
1151:
645:rarediseases.info.nih.gov
587:rarediseases.info.nih.gov
328:X linked thrombocytopenia
54:
45:
1580:Henoch–Schönlein purpura
1395:Eosinophilic esophagitis
872:10.1186/1471-2431-14-272
1696:Hashimoto's thyroiditis
1483:Guillain–Barré syndrome
732:Genetics Home Reference
616:Genetics Home Reference
392:Genetics Home Reference
234:due to mutation of the
1797:Autoimmune adrenalitis
472:10.1210/jc.2002-021845
345:
302:Differential diagnosis
276:
341:
272:
196:adrenal insufficiency
1802:Autoimmune hepatitis
1781:Transplant rejection
1691:Giant cell arteritis
1621:Rheumatoid arthritis
1478:Goodpasture syndrome
1390:Autoimmune urticaria
687:10.1136/jmg.39.8.537
509:10.1056/NEJMra030158
57:autoimmune regulator
1859:Autoimmune diseases
1268:autoimmune diseases
230:(IPEX syndrome) is
184:autosomal recessive
121:Endoscopic, CT scan
59:protein (from the
1854:Endocrine diseases
1711:Reactive arthritis
1701:Multiple sclerosis
1595:Reactive arthritis
1493:Pemphigus vulgaris
1473:Bullous pemphigoid
1374:Penicillin allergy
1310:Allergic urticaria
1173:Carcinoid syndrome
1055:External resources
346:
277:
251:X-linked recessive
232:X-linked recessive
218:autosomal dominant
192:hypoparathyroidism
190:gene resulting in
1841:
1840:
1837:
1836:
1742:
1741:
1634:
1633:
1543:
1542:
1539:
1538:
1531:Pernicious anemia
1526:Myasthenia gravis
1403:
1402:
1326:Atopic dermatitis
1315:Allergic rhinitis
1230:
1229:
1081:
1080:
934:Diseases Database
563:. 8 December 2023
364:Immunosuppression
162:characterized by
133:
132:
117:Diagnostic method
27:Medical condition
16:(Redirected from
1876:
1824:Sjögren syndrome
1753:
1655:
1560:
1456:
1435:
1295:
1264:Hypersensitivity
1257:
1250:
1243:
1234:
1145:endocrine glands
1137:
1130:
1123:
1114:
1090:
1089:
949:
923:
902:
892:
874:
840:
839:
821:
797:
791:
790:
784:
776:
774:
773:
753:
747:
746:
744:
743:
723:
717:
716:
706:
666:
660:
659:
657:
656:
647:. Archived from
637:
631:
630:
628:
627:
608:
602:
601:
599:
598:
589:. Archived from
579:
573:
572:
570:
568:
553:
547:
546:
544:
542:
527:
521:
520:
497:N. Engl. J. Med.
491:
485:
484:
474:
465:(7): 2983–2992.
450:
444:
443:
441:
439:
424:
407:
406:
404:
403:
383:
83:
82:
50:
30:
21:
1884:
1883:
1879:
1878:
1877:
1875:
1874:
1873:
1844:
1843:
1842:
1833:
1785:
1748:
1738:
1720:
1716:Type 1 diabetes
1686:Coeliac disease
1674:
1646:
1630:
1604:
1570:Arthus reaction
1551:
1535:
1521:Graves' disease
1502:
1498:Rheumatic fever
1447:
1415:
1399:
1378:
1305:Allergic asthma
1286:
1270:
1261:
1231:
1226:
1205:Werner syndrome
1147:
1141:
1111:
1110:
1109:
1091:
1087:
1082:
1077:
1076:
1050:
1049:
960:
930:
920:
905:
852:
849:
847:Further reading
844:
843:
799:
798:
794:
777:
771:
769:
755:
754:
750:
741:
739:
728:"IPEX syndrome"
725:
724:
720:
668:
667:
663:
654:
652:
639:
638:
634:
625:
623:
612:"IPEX syndrome"
610:
609:
605:
596:
594:
581:
580:
576:
566:
564:
555:
554:
550:
540:
538:
529:
528:
524:
503:(20): 2068–79.
493:
492:
488:
452:
451:
447:
437:
435:
426:
425:
410:
401:
399:
385:
384:
377:
372:
360:
336:
304:
297:Histologic test
267:
247:
222:type 1 diabetes
176:
168:endocrine organ
142:), also called
129:Depends on type
100:
95:
77:
28:
23:
22:
15:
12:
11:
5:
1882:
1880:
1872:
1871:
1866:
1864:Rare syndromes
1861:
1856:
1846:
1845:
1839:
1838:
1835:
1834:
1832:
1831:
1826:
1821:
1820:
1819:
1814:
1804:
1799:
1793:
1791:
1787:
1786:
1784:
1783:
1778:
1772:
1771:
1770:
1759:
1757:
1750:
1744:
1743:
1740:
1739:
1737:
1736:
1730:
1728:
1722:
1721:
1719:
1718:
1713:
1708:
1703:
1698:
1693:
1688:
1682:
1680:
1676:
1675:
1673:
1672:
1667:
1661:
1659:
1652:
1636:
1635:
1632:
1631:
1629:
1628:
1623:
1618:
1612:
1610:
1606:
1605:
1603:
1602:
1600:Serum sickness
1597:
1592:
1587:
1582:
1577:
1572:
1566:
1564:
1557:
1554:Immune complex
1545:
1544:
1541:
1540:
1537:
1536:
1534:
1533:
1528:
1523:
1517:
1515:
1504:
1503:
1501:
1500:
1495:
1490:
1485:
1480:
1475:
1470:
1464:
1462:
1453:
1449:
1448:
1446:
1441:
1439:
1432:
1431:
1430:
1429:
1428:
1423:
1405:
1404:
1401:
1400:
1398:
1397:
1392:
1386:
1384:
1380:
1379:
1377:
1376:
1371:
1370:
1369:
1364:
1359:
1354:
1349:
1344:
1339:
1328:
1323:
1318:
1312:
1307:
1301:
1299:
1292:
1272:
1271:
1262:
1260:
1259:
1252:
1245:
1237:
1228:
1227:
1225:
1224:
1219:
1218:
1217:
1212:
1207:
1197:
1196:
1195:
1190:
1185:
1175:
1170:
1169:
1168:
1163:
1152:
1149:
1148:
1142:
1140:
1139:
1132:
1125:
1117:
1092:
1085:
1084:
1083:
1079:
1078:
1075:
1074:
1059:
1058:
1056:
1052:
1051:
1048:
1047:
1036:
1025:
1011:
996:
981:
961:
956:
955:
953:
952:Classification
946:
945:
940:
929:
928:External links
926:
925:
924:
918:
903:
859:BMC Pediatrics
848:
845:
842:
841:
792:
748:
718:
681:(8): 537–545.
661:
632:
603:
574:
548:
537:. 29 June 2022
522:
486:
445:
434:. 29 June 2022
408:
374:
373:
371:
368:
367:
366:
359:
356:
335:
332:
331:
330:
325:
320:
314:
303:
300:
299:
298:
295:
290:
279:Diagnosis for
266:
263:
246:
243:
242:
241:
225:
211:
175:
172:
131:
130:
127:
123:
122:
119:
113:
112:
109:
105:
104:
89:
85:
84:
71:
65:
64:
52:
51:
43:
42:
39:
35:
34:
26:
24:
14:
13:
10:
9:
6:
4:
3:
2:
1881:
1870:
1867:
1865:
1862:
1860:
1857:
1855:
1852:
1851:
1849:
1830:
1827:
1825:
1822:
1818:
1815:
1813:
1810:
1809:
1808:
1805:
1803:
1800:
1798:
1795:
1794:
1792:
1788:
1782:
1779:
1776:
1775:Latex allergy
1773:
1769:
1766:
1765:
1764:
1761:
1760:
1758:
1754:
1751:
1745:
1735:
1732:
1731:
1729:
1727:
1723:
1717:
1714:
1712:
1709:
1707:
1704:
1702:
1699:
1697:
1694:
1692:
1689:
1687:
1684:
1683:
1681:
1677:
1671:
1668:
1666:
1663:
1662:
1660:
1656:
1653:
1650:
1645:
1644:cell-mediated
1641:
1637:
1627:
1624:
1622:
1619:
1617:
1614:
1613:
1611:
1607:
1601:
1598:
1596:
1593:
1591:
1588:
1586:
1583:
1581:
1578:
1576:
1575:Farmer's lung
1573:
1571:
1568:
1567:
1565:
1561:
1558:
1555:
1550:
1546:
1532:
1529:
1527:
1524:
1522:
1519:
1518:
1516:
1514:
1510:
1505:
1499:
1496:
1494:
1491:
1489:
1486:
1484:
1481:
1479:
1476:
1474:
1471:
1469:
1466:
1465:
1463:
1461:
1457:
1454:
1450:
1445:
1442:
1440:
1436:
1433:
1427:
1424:
1422:
1419:
1418:
1417:
1416:
1414:
1410:
1406:
1396:
1393:
1391:
1388:
1387:
1385:
1381:
1375:
1372:
1368:
1365:
1363:
1360:
1358:
1355:
1353:
1350:
1348:
1345:
1343:
1340:
1338:
1334:
1333:
1332:
1329:
1327:
1324:
1322:
1319:
1316:
1313:
1311:
1308:
1306:
1303:
1302:
1300:
1296:
1293:
1290:
1285:
1281:
1277:
1273:
1269:
1265:
1258:
1253:
1251:
1246:
1244:
1239:
1238:
1235:
1223:
1220:
1216:
1213:
1211:
1208:
1206:
1203:
1202:
1201:
1198:
1194:
1191:
1189:
1186:
1184:
1181:
1180:
1179:
1176:
1174:
1171:
1167:
1164:
1162:
1159:
1158:
1157:
1154:
1153:
1150:
1146:
1138:
1133:
1131:
1126:
1124:
1119:
1118:
1115:
1107:
1106:
1105:
1099:
1095:
1073:
1070:
1066:
1065:
1061:
1060:
1057:
1053:
1046:
1042:
1041:
1037:
1035:
1031:
1030:
1026:
1024:
1021:
1017:
1016:
1012:
1010:
1006:
1005:
1001:
997:
995:
991:
990:
986:
982:
980:
976:
972:
971:
967:
963:
962:
959:
954:
950:
944:
941:
939:
935:
932:
931:
927:
921:
919:9781603272858
915:
911:
910:
904:
900:
896:
891:
886:
882:
878:
873:
868:
864:
860:
856:
851:
850:
846:
837:
833:
829:
825:
820:
815:
811:
807:
803:
796:
793:
788:
782:
767:
763:
762:www.orpha.net
759:
752:
749:
737:
733:
729:
722:
719:
714:
710:
705:
700:
696:
692:
688:
684:
680:
676:
672:
665:
662:
651:on 2019-01-09
650:
646:
642:
636:
633:
621:
617:
613:
607:
604:
593:on 2017-04-13
592:
588:
584:
578:
575:
562:
558:
552:
549:
536:
532:
526:
523:
518:
514:
510:
506:
502:
499:
498:
490:
487:
482:
478:
473:
468:
464:
460:
456:
449:
446:
433:
429:
423:
421:
419:
417:
415:
413:
409:
397:
393:
389:
382:
380:
376:
369:
365:
362:
361:
357:
355:
353:
349:
344:
340:
333:
329:
326:
324:
321:
318:
315:
312:
309:
308:
307:
301:
296:
294:
291:
289:
286:
285:
284:
282:
275:
271:
264:
262:
260:
256:
253:process. The
252:
244:
239:
238:
233:
229:
226:
223:
219:
215:
212:
209:
205:
201:
197:
193:
189:
185:
181:
178:
177:
173:
171:
169:
165:
161:
160:rare diseases
157:
153:
149:
145:
141:
137:
128:
124:
120:
118:
114:
110:
106:
103:
102:IPEX syndrome
98:
93:
90:
86:
81:
75:
74:Endocrinology
72:
70:
66:
62:
58:
53:
49:
44:
40:
36:
31:
19:
1806:
1670:Mantoux test
1331:Food allergy
1155:
1102:
1101:
1100:profile for
1097:
1062:
1038:
1027:
1013:
998:
983:
964:
908:
862:
858:
812:(1): 54–66.
809:
805:
795:
770:. Retrieved
761:
751:
740:. Retrieved
731:
721:
678:
674:
664:
653:. Retrieved
649:the original
644:
635:
624:. Retrieved
615:
606:
595:. Retrieved
591:the original
586:
577:
565:. Retrieved
560:
551:
539:. Retrieved
534:
525:
500:
495:
489:
462:
458:
448:
436:. Retrieved
431:
400:. Retrieved
391:
388:"FOXP3 gene"
352:Ketoconazole
350:
347:
343:Ketoconazole
305:
280:
278:
257:gene, whose
254:
248:
235:
200:hypogonadism
187:
155:
151:
147:
143:
139:
135:
134:
60:
1321:Anaphylaxis
1317:(Hay fever)
259:cytogenetic
210:and others.
208:candidiasis
38:Other names
1848:Categories
1790:Autoimmune
1679:Autoimmune
1609:Autoimmune
1452:Autoimmune
1383:Autoimmune
1040:DiseasesDB
772:2017-05-11
742:2017-05-11
655:2017-04-20
626:2017-04-20
597:2017-04-20
402:2017-05-11
370:References
334:Management
319:deficiency
313:deficiency
288:Endoscopic
164:autoimmune
97:APS type 2
1460:Cytotoxic
1215:Metageria
1210:Acrogeria
1064:eMedicine
881:1471-2431
828:0004-2730
695:0022-2593
265:Diagnosis
126:Treatment
92:APS type1
69:Specialty
1749:multiple
1747:Unknown/
1549:Type III
1513:receptor
1362:Tree nut
1200:Progeria
1072:med/1868
1069:med/1867
899:25361846
836:22460196
781:cite web
766:Archived
736:Archived
713:12161590
620:Archived
567:28 April
561:Medscape
541:28 April
535:MEDSCAPE
517:15141045
481:12843130
438:28 April
432:MEDSCAPE
396:Archived
358:See also
204:vitiligo
1756:Foreign
1658:Foreign
1649:T cells
1640:Type IV
1563:Foreign
1438:Foreign
1409:Type II
1352:Seafood
1298:Foreign
1280:allergy
1094:Scholia
1034:D016884
936:(DDB):
890:4286916
865:: 272.
704:1735203
293:CT scan
274:CT scan
1777:(I+IV)
1509:Type V
1347:Peanut
1276:Type I
1096:has a
1023:269200
1020:240300
943:PubMed
916:
897:
887:
879:
834:
826:
711:
701:
693:
515:
479:
317:STAT5B
281:type 1
108:Causes
76:
1616:Lupus
1367:Wheat
1284:atopy
1098:topic
1045:29212
1009:258.1
994:E31.0
938:29690
255:FOXP3
245:Cause
237:FOXP3
216:, an
182:, an
174:Types
150:) or
148:PGASs
88:Types
1817:APS2
1812:APS1
1726:GVHD
1413:ADCC
1342:Milk
1266:and
1166:APS2
1161:APS1
1029:MeSH
1015:OMIM
1004:9-CM
979:5B01
975:5B00
914:ISBN
895:PMID
877:ISSN
832:PMID
824:ISSN
787:link
709:PMID
691:ISSN
569:2024
543:2024
513:PMID
477:PMID
440:2024
311:CD25
188:AIRE
156:PASs
140:APSs
61:AIRE
55:The
1426:IgM
1421:IgG
1357:Soy
1337:Egg
1289:IgE
1000:ICD
985:ICD
966:ICD
885:PMC
867:doi
814:doi
699:PMC
683:doi
505:doi
501:350
467:doi
1850::
1511:"/
1193:2B
1188:2A
1067::
1043::
1032::
1018::
1007::
992::
989:10
977:,
973::
970:11
893:.
883:.
875:.
863:14
861:.
857:.
830:.
822:.
810:56
808:.
804:.
783:}}
779:{{
764:.
760:.
734:.
730:.
707:.
697:.
689:.
679:39
677:.
673:.
643:.
618:.
614:.
585:.
559:.
533:.
511:.
475:.
463:88
461:.
457:.
430:.
411:^
394:.
390:.
378:^
206:,
202:,
198:,
194:,
1651:)
1647:(
1642:/
1556:)
1552:(
1507:"
1411:/
1291:)
1287:(
1282:/
1278:/
1256:e
1249:t
1242:v
1183:1
1136:e
1129:t
1122:v
1108:.
1002:-
987:-
968:-
958:D
922:.
901:.
869::
838:.
816::
789:)
775:.
745:.
715:.
685::
658:.
629:.
600:.
571:.
545:.
519:.
507::
483:.
469::
442:.
405:.
224:.
154:(
146:(
138:(
99:,
94:,
20:)
Text is available under the Creative Commons Attribution-ShareAlike License. Additional terms may apply.
