82:
431:
1462:
1105:
Oikonomou, Vasileios; Smith, Grace; Constantine, Gregory M.; Schmitt, Monica M.; Ferré, Elise M.N.; Alejo, Julie C.; Riley, Deanna; Kumar, Dhaneshwar; Dos Santos Dias, Lucas; Pechacek, Joseph; Hadjiyannis, Yannis; Webb, Taura; Seifert, Bryce A.; Ghosh, Rajarshi; Walkiewicz, Magdalena (2024-05-30).
1368:
1353:
494:
APS-1 may also be known as autoimmunity endocrinopathy candidiasis ectodermal dystrophy / dysplasia (APECED), autoimmune polyglandular syndrome type 1, Whitaker syndrome, or candidiasis-hypoparathyroidism-Addison's disease syndrome.
2239:
1508:
714:
Orlova, Elizaveta M; Sozaeva, Leila S; Kareva, Maria A; Oftedal, Bergithe E; Wolff, Anette S B; Breivik, Lars; Zakharova, Ekaterina Y; Ivanova, Olga N; KĂ€mpe, Olle; Dedov, Ivan I; Knappskog, Per M (2017-07-20).
2232:
660:
Meloni, Antonella; Willcox, Nick; Meager, Anthony; Atzeni, Michela; Wolff, Anette S. B.; Husebye, Eystein S.; Furcas, Maria; Rosatelli, Maria
Cristina; Cao, Antonio; Congia, Mauro (April 2012).
1628:
1501:
2225:
3152:
572:
1494:
666:
610:
297:
780:
2107:
1621:
3044:
3254:
1614:
2407:
2648:
2349:
2190:
1786:
1539:
504:
1084:
840:
Pearce SH, Cheetham T, Imrie H, Vaidya B, Barnes ND, Bilous RW, Carr D, Meeran K, Shaw NJ, Smith CS, Toft AD, Williams G, Kendall-Taylor P (1998).
2839:
2339:
2141:
462:
Autoimmune polyendocrine syndrome type 1 treatment is based on the symptoms that are presented by the affected individual. Treatments may involve
804:
D.N. Cooper; E.V. Ball; P.D. Stenson; A.D. Phillips; K. Evans; S. Heywood; M.J. Hayden; M.M. Chapman; M.E Mort; L. Azevedo; D.S. Millar (eds.).
1963:
1237:"Autoimmune polyendocrinopathy candidiasis ectodermal dystrophy (APECED): a model disease to study molecular aspects of endocrine autoimmunity"
568:
212:
APS-1 tends to cause severe symptoms. These are present from early in life, usually around 3.5 years of age. Common symptoms of APS-1 include:
2371:
1170:
2811:
3130:
2720:
2442:
2423:
2344:
1566:
2797:
1561:
1556:
1383:
296:
594:
17:
2356:
1048:
842:"A Common and Recurrent 13-bp Deletion in the Autoimmune Regulator Gene in British Kindreds with Autoimmune Polyendocrinopathy Type 1"
2217:
2180:
1958:
1529:
604:
514:
216:
170:
115:
2447:
1817:
1953:
2366:
2334:
1999:
1861:
772:
1856:
2956:
2381:
815:
3194:
2825:
1595:
3218:
2079:
2606:
2279:
3249:
2925:
2867:
2853:
2136:
1551:
544:
2427:
3244:
2506:
2038:
1841:
2982:
2452:
2329:
2069:
1747:
475:
3156:
3144:
3116:
2667:
2573:
3172:
3025:
2881:
2753:
2437:
2099:
1922:
411:
2977:
2432:
3062:
2013:
1782:
1768:
1394:
1280:"Autoimmune polyendocrinopathy candidiasis ectodermal dystrophy: insights into genotype-phenotype correlation"
2739:
2587:
2361:
1886:
1649:
1477:
3148:
2972:
3014:
2920:
2325:
2017:
1445:
3020:
2692:
2634:
2620:
2457:
2386:
1076:
197:
3188:
3160:
3039:
2998:
2706:
2592:
2252:
2175:
2170:
2154:
2064:
1994:
1851:
1763:
305:
242:
228:
190:
71:
2653:
2197:
1372:
338:
Different mutations are more common in different geographic regions. R139X is a common mutation in
332:
1190:
De
Martino L, Capalbo D, Improda N, Lorello P, Ungaro C, Di Mase R, et al. (1 January 2016).
983:"APECED: A Paradigm of Complex Interactions between Genetic Background and Susceptibility Factors"
981:
De
Martino L, Capalbo D, Improda N, D'Elia F, Di Mase R, D'Assante R, et al. (October 2013).
3259:
2734:
2531:
2462:
2202:
2084:
2074:
1968:
1866:
1846:
1683:
1641:
1546:
754:
662:"Autoimmune Polyendocrine Syndrome Type 1: An Extensive Longitudinal Study in Sardinian Patients"
419:
222:
110:
67:
1894:
1486:
2792:
2512:
2274:
1904:
1899:
1699:
1688:
1405:
1311:
1266:
1223:
1166:
1127:
1014:
963:
912:
873:
746:
738:
717:"Expanding the Phenotypic and Genotypic Landscape of Autoimmune Polyendocrine Syndrome Type 1"
693:
685:
600:
471:
347:
284:
272:
154:
130:
94:
2402:
2248:
1948:
1882:
1799:
1794:
1735:
1662:
1637:
1301:
1291:
1278:
Capalbo D, De
Martino L, Giardino G, Di Mase R, Di Donato I, Parenti G, et al. (2012).
1256:
1248:
1213:
1203:
1119:
1004:
994:
953:
943:
904:
863:
853:
728:
675:
483:
399:
387:
379:
201:
182:
103:
1606:
3089:
2875:
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2089:
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1943:
1871:
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1678:
1578:
1518:
1162:
1147:
463:
174:
146:
81:
1467:
1040:
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1973:
1927:
1720:
1306:
1279:
1261:
1236:
1218:
1191:
1009:
982:
958:
931:
868:
841:
395:
391:
1377:
3238:
2895:
2517:
2148:
1740:
1252:
1154:
509:
367:
363:
320:
266:
99:
2043:
1833:
1715:
1704:
1434:
758:
248:
178:
806:
430:
1399:
1730:
1710:
1694:
1158:
1107:
482:
is being investigated as a treatment specifically for its normalizing effect on
479:
150:
63:
1410:
2767:
1362:
948:
908:
467:
403:
351:
316:
1131:
999:
742:
689:
536:
3213:
1588:
1583:
1429:
1208:
451:
439:
328:
186:
1315:
1270:
1227:
1018:
967:
916:
750:
697:
173:(autoimmune polyglandular syndrome). It causes the dysfunction of multiple
1296:
1192:"Novel Findings into AIRE Genetics and Functioning: Clinical Implications"
1123:
877:
733:
716:
1573:
1440:
932:"A novel AIRE mutation leads to autoimmune polyendocrine syndrome type-1"
680:
661:
339:
278:
260:
254:
1345:
45:
Autoimmune polyendocrinopathy-candidiasisâectodermal dystrophy/dysplasia
1653:
443:
407:
343:
312:
135:
18:
Autoimmune polyendocrinopathyâcandidiasisâectodermal dystrophy syndrome
1330:
1108:"The Role of Interferon-Îł in Autoimmune Polyendocrine Syndrome Type 1"
3008:
3003:
2628:
2614:
2559:
2539:
2376:
2022:
1357:
447:
359:
394:. This leads to damage to endocrine organs. Common problems include
858:
3124:
3033:
2889:
2861:
2847:
2833:
2819:
2805:
2600:
2567:
1989:
1657:
429:
415:
383:
295:
358:
gene, c.967-979del13bp, has been identified in APS-1 patients in
3138:
3110:
2914:
2761:
2747:
2728:
2714:
2700:
2686:
2661:
2642:
2581:
2553:
2525:
1388:
2221:
1610:
1490:
89:
Autoimmune polyendocrine syndrome type 1 is autosomal recessive
438:
Diagnosis of APS-1 is based on a number of tests, including
27:
Autoimmune condition causing dysfunction of endocrine glands
1235:
Peterson P, PitkÀnen J, SillanpÀÀ N, Krohn K (March 2004).
777:
NIH: National
Institute of Allergy and Infectious Diseases
315:
called autoimmune regulator. This is found on the 21q22.3
891:
Bruserud Ă, Oftedal BE, Wolff AB, Husebye ES (2016). "
721:
The
Journal of Clinical Endocrinology & Metabolism
667:
The
Journal of Clinical Endocrinology & Metabolism
599:. Springer Science & Business Media. p. 265.
234:
Ectodermal dystrophy (skin, dental enamel, and nails).
930:
Qian G, Yan X, Xuan J, Zheng D, He Z, Shen J (2022).
1335:
3205:
3180:
3171:
3102:
3082:
3075:
3055:
2991:
2965:
2949:
2940:
2906:
2778:
2678:
2498:
2491:
2471:
2416:
2395:
2317:
2308:
2288:
2267:
2260:
2163:
2129:
2120:
2098:
2052:
2031:
2012:
1982:
1936:
1921:
1880:
1832:
1825:
1811:
1781:
1756:
1671:
1648:
1420:
1339:
142:
129:
121:
109:
93:
40:
35:
3153:Ectrodactylyâectodermal dysplasiaâcleft syndrome 3
1146:
805:
773:"Autoimmune Polyglandular Syndrome Type 1 (APS-1)"
593:Shoenfeld Y, Cervera R, Gershwin ME (2010-06-08).
2108:Transfusion-associated graft-versus-host disease
1077:"Orphanet: Autoimmune polyendocrinopathy type 1"
382:. APS-1 causes considerable reactions with both
3045:Yemenite deaf-blind hypopigmentation syndrome
2233:
1622:
1502:
835:
833:
8:
814:. Institute of Medical Genetics in Cardiff.
327:gene may be affected by any of at least 186
936:Frontiers in Cell and Developmental Biology
350:: the asterisk and the "X" both indicate a
3177:
3079:
2946:
2495:
2314:
2264:
2240:
2226:
2218:
2126:
2028:
1933:
1829:
1808:
1668:
1629:
1615:
1607:
1509:
1495:
1487:
1336:
1041:"Type I Polyglandular Autoimmune Syndrome"
596:Diagnostic Criteria in Autoimmune Diseases
80:
32:
1305:
1295:
1260:
1217:
1207:
1145:Greenspan, F. S.; Gardner, D. C. (2004).
1008:
998:
957:
947:
867:
857:
732:
679:
2649:Posterior polymorphous corneal dystrophy
2479:Autoimmune polyendocrine syndrome type 1
1478:Autoimmune polyendocrine syndrome type 1
1039:Aldasouqi, Saleh A. (15 November 2016).
505:Autoimmune polyendocrine syndrome type 2
163:Autoimmune polyendocrine syndrome type 1
54:Autoimmune polyglandular syndrome type 1
36:Autoimmune polyendocrine syndrome type 1
2840:Anterior segment mesenchymal dysgenesis
2142:Allergic bronchopulmonary aspergillosis
525:
450:(with histological testing), and serum
390:. There may also be a reaction against
1284:International Journal of Endocrinology
1070:
1068:
1066:
799:
797:
563:
561:
2372:X-linked adrenal hypoplasia congenita
1964:Post-streptococcal glomerulonephritis
1034:
1032:
1030:
1028:
655:
653:
651:
649:
647:
531:
529:
304:APS-1 is caused by a mutation in the
7:
2424:Greig cephalopolysyndactyly syndrome
1241:Clinical and Experimental Immunology
895:-mutations and autoimmune disease".
709:
707:
645:
643:
641:
639:
637:
635:
633:
631:
629:
627:
2798:Iridogoniodysgenesis, dominant type
818:from the original on 22 August 2023
410:), and pituitary problems (such as
846:American Journal of Human Genetics
354:. A 13-base-pair deletion in the
25:
3255:Transcription factor deficiencies
2181:Autoimmune polyendocrine syndrome
1530:Autoimmune polyendocrine syndrome
515:Autoimmune polyendocrine syndrome
217:Chronic mucocutaneous candidiasis
171:autoimmune polyendocrine syndrome
116:chronic mucocutaneous candidiasis
2812:Lymphedemaâdistichiasis syndrome
2408:Trichoârhinoâphalangeal syndrome
2382:Familial partial lipodystrophy 3
1818:Hemolytic disease of the newborn
1460:
1253:10.1111/j.1365-2249.2004.02384.x
812:The Human Gene Mutation Database
342:. R257* is a common mutation in
3076:(0) Other transcription factors
2367:Estrogen insensitivity syndrome
2335:Androgen insensitivity syndrome
2000:Subacute bacterial endocarditis
1862:Immune thrombocytopenic purpura
1112:New England Journal of Medicine
1087:from the original on 2017-04-23
1051:from the original on 2008-12-09
783:from the original on 2017-04-17
613:from the original on 2023-01-14
575:from the original on 2017-04-06
547:from the original on 2017-04-05
346:. Both of these mutations are
331:. APS-1 may be inherited in an
189:fashion due to a defect in the
2957:Hyperimmunoglobulin E syndrome
2362:PHA1AD pseudohypoaldosteronism
378:APS-1 is due to problems with
1:
3219:Atrichia with papular lesions
2080:Postorgasmic illness syndrome
1517:Disorders involving multiple
897:Current Opinion in Immunology
2926:Popliteal pterygium syndrome
2868:Enlarged vestibular aqueduct
2707:Waardenburg syndrome 1&3
2492:(3) Helix-turn-helix domains
2251:relating to deficiencies of
2137:Hypersensitivity pneumonitis
1552:Multiple endocrine neoplasia
1149:Basic clinical endocrinology
3026:Premature ovarian failure 7
2882:Premature ovarian failure 3
2754:Congenital hypothyroidism 2
2203:Systemic autoimmune disease
2039:Allergic contact dermatitis
1959:Hypersensitivity vasculitis
1842:Autoimmune hemolytic anemia
194:gene (autoimmune regulator)
3276:
3173:Transcription coregulators
2943:with minor groove contacts
2330:Thyroid hormone resistance
1709:common allergies include:
3195:RubinsteinâTaybi syndrome
3021:SRY XY gonadal dysgenesis
2826:BamforthâLazarus syndrome
2438:Duane-radial ray syndrome
2387:SF1 XY gonadal dysgenesis
1596:WoodhouseâSakati syndrome
1525:
949:10.3389/fcell.2022.948350
909:10.1016/j.coi.2016.07.003
412:growth hormone deficiency
185:, inherited in autosomal
88:
79:
3063:Cleidocranial dysostosis
2280:SaethreâChotzen syndrome
1954:HenochâSchönlein purpura
1769:Eosinophilic esophagitis
1000:10.3389/fimmu.2013.00331
454:autoantibody screening.
3040:Waardenburg syndrome 4c
2740:Coloboma of optic nerve
2588:Tooth and nail syndrome
2428:PallisterâHall syndrome
2070:Hashimoto's thyroiditis
1857:GuillainâBarrĂ© syndrome
1209:10.3389/fped.2016.00086
1196:Frontiers in Pediatrics
987:Frontiers in Immunology
541:Genetics Home Reference
2983:Ulnarâmammary syndrome
2941:(4) ÎČ-Scaffold factors
2921:Van der Woude syndrome
2453:TownesâBrocks syndrome
2326:Intracellular receptor
2171:Autoimmune adrenalitis
1045:emedicine.medscape.com
435:
414:). Antibodies against
301:
238:APS-1 may also cause:
196:, which is located on
3157:Limbâmammary syndrome
3145:RappâHodgkin syndrome
3117:PittâHopkins syndrome
2693:Papillorenal syndrome
2668:MowatâWilson syndrome
2574:Nailâpatella syndrome
2458:Acrocallosal syndrome
1124:10.1056/NEJMoa2312665
734:10.1210/jc.2017-00139
433:
299:
200:and normally confers
125:mutation in AIRE gene
2999:Campomelic dysplasia
2978:LiâFraumeni syndrome
2463:Myotonic dystrophy 2
2433:DenysâDrash syndrome
2253:transcription factor
2176:Autoimmune hepatitis
2155:Transplant rejection
2065:Giant cell arteritis
1995:Rheumatoid arthritis
1852:Goodpasture syndrome
1764:Autoimmune urticaria
681:10.1210/jc.2011-2461
243:Autoimmune hepatitis
3250:Autoimmune diseases
2793:Axenfeld syndrome 3
2607:Axenfeld syndrome 1
2546:SPD1 synpolydactyly
2311:DNA-binding domains
1642:autoimmune diseases
1297:10.1155/2012/353250
333:autosomal recessive
169:), is a subtype of
3245:Endocrine diseases
3149:HayâWells syndrome
2973:HoltâOram syndrome
2735:Gillespie syndrome
2654:Fuchs' dystrophy 3
2532:Currarino syndrome
2085:Reactive arthritis
2075:Multiple sclerosis
1969:Reactive arthritis
1867:Pemphigus vulgaris
1847:Bullous pemphigoid
1748:Penicillin allergy
1684:Allergic urticaria
1547:Carcinoid syndrome
1421:External resources
436:
420:hypoparathyroidism
402:(due to a lack of
348:nonsense mutations
302:
223:Hypoparathyroidism
208:Signs and symptoms
68:hypoparathyroidism
3232:
3231:
3228:
3227:
3098:
3097:
3071:
3070:
2936:
2935:
2513:Ohtahara syndrome
2487:
2486:
2357:Kennedy's disease
2304:
2303:
2275:Feingold syndrome
2261:(1) Basic domains
2249:Genetic disorders
2215:
2214:
2211:
2210:
2116:
2115:
2008:
2007:
1917:
1916:
1913:
1912:
1905:Pernicious anemia
1900:Myasthenia gravis
1777:
1776:
1700:Atopic dermatitis
1689:Allergic rhinitis
1604:
1603:
1455:
1454:
1172:978-0-07-140297-2
1118:(20): 1873â1884.
1075:INSERM RESERVED.
472:immunosuppression
285:Cerebellar ataxia
273:Pernicious anemia
229:Addison's disease
160:
159:
155:immunosuppression
131:Diagnostic method
72:Addison's disease
58:Whitaker syndrome
30:Medical condition
16:(Redirected from
3267:
3178:
3080:
2947:
2518:Lissencephaly X2
2496:
2403:Barakat syndrome
2315:
2265:
2242:
2235:
2228:
2219:
2198:Sjögren syndrome
2127:
2029:
1934:
1830:
1809:
1669:
1638:Hypersensitivity
1631:
1624:
1617:
1608:
1519:endocrine glands
1511:
1504:
1497:
1488:
1464:
1463:
1337:
1319:
1309:
1299:
1274:
1264:
1231:
1221:
1211:
1177:
1176:
1152:
1142:
1136:
1135:
1102:
1096:
1095:
1093:
1092:
1072:
1061:
1060:
1058:
1056:
1036:
1023:
1022:
1012:
1002:
978:
972:
971:
961:
951:
927:
921:
920:
888:
882:
881:
871:
861:
852:(6): 1675â1684.
837:
828:
827:
825:
823:
809:
801:
792:
791:
789:
788:
769:
763:
762:
736:
727:(9): 3546â3556.
711:
702:
701:
683:
674:(4): 1114â1124.
657:
622:
621:
619:
618:
590:
584:
583:
581:
580:
565:
556:
555:
553:
552:
533:
484:interferon-gamma
470:treatments, and
400:nephrocalcinosis
388:interferon alpha
384:interferon omega
380:immune tolerance
319:location, hence
202:immune tolerance
183:genetic disorder
175:endocrine glands
104:medical genetics
84:
33:
21:
3275:
3274:
3270:
3269:
3268:
3266:
3265:
3264:
3235:
3234:
3233:
3224:
3201:
3167:
3094:
3090:Kabuki syndrome
3067:
3051:
2987:
2961:
2942:
2932:
2902:
2774:
2674:
2483:
2467:
2412:
2391:
2310:
2309:(2) Zinc finger
2300:
2284:
2256:
2255:or coregulators
2246:
2216:
2207:
2159:
2122:
2112:
2094:
2090:Type 1 diabetes
2060:Coeliac disease
2048:
2020:
2004:
1978:
1944:Arthus reaction
1925:
1909:
1895:Graves' disease
1876:
1872:Rheumatic fever
1821:
1789:
1773:
1752:
1679:Allergic asthma
1660:
1644:
1635:
1605:
1600:
1579:Werner syndrome
1521:
1515:
1485:
1484:
1483:
1465:
1461:
1456:
1451:
1450:
1416:
1415:
1348:
1327:
1322:
1277:
1234:
1189:
1185:
1183:Further reading
1180:
1173:
1144:
1143:
1139:
1104:
1103:
1099:
1090:
1088:
1074:
1073:
1064:
1054:
1052:
1038:
1037:
1026:
980:
979:
975:
929:
928:
924:
890:
889:
885:
839:
838:
831:
821:
819:
803:
802:
795:
786:
784:
771:
770:
766:
713:
712:
705:
659:
658:
625:
616:
614:
607:
592:
591:
587:
578:
576:
567:
566:
559:
550:
548:
535:
534:
527:
523:
501:
492:
464:hormone therapy
460:
428:
376:
374:Pathophysiology
294:
210:
147:hormone therapy
31:
28:
23:
22:
15:
12:
11:
5:
3273:
3271:
3263:
3262:
3257:
3252:
3247:
3237:
3236:
3230:
3229:
3226:
3225:
3223:
3222:
3209:
3207:
3203:
3202:
3200:
3199:
3198:
3197:
3184:
3182:
3175:
3169:
3168:
3166:
3165:
3164:
3163:
3135:
3134:
3133:
3121:
3120:
3119:
3106:
3104:
3100:
3099:
3096:
3095:
3093:
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3057:
3053:
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3049:
3048:
3047:
3042:
3030:
3029:
3028:
3023:
3011:
3006:
3001:
2995:
2993:
2989:
2988:
2986:
2985:
2980:
2975:
2969:
2967:
2963:
2962:
2960:
2959:
2953:
2951:
2944:
2938:
2937:
2934:
2933:
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2929:
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2923:
2910:
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2900:
2899:
2898:
2886:
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2884:
2872:
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2870:
2858:
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2844:
2843:
2842:
2830:
2829:
2828:
2816:
2815:
2814:
2802:
2801:
2800:
2795:
2782:
2780:
2776:
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2770:
2758:
2757:
2756:
2744:
2743:
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2737:
2725:
2724:
2723:
2711:
2710:
2709:
2697:
2696:
2695:
2682:
2680:
2676:
2675:
2673:
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2670:
2658:
2657:
2656:
2651:
2639:
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2637:
2625:
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2623:
2611:
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2609:
2597:
2596:
2595:
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2578:
2577:
2576:
2564:
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2522:
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2500:
2493:
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2475:
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2342:
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2321:
2319:
2312:
2306:
2305:
2302:
2301:
2299:
2298:
2296:Tietz syndrome
2292:
2290:
2286:
2285:
2283:
2282:
2277:
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2262:
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2110:
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2102:
2096:
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2087:
2082:
2077:
2072:
2067:
2062:
2056:
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2046:
2041:
2035:
2033:
2026:
2010:
2009:
2006:
2005:
2003:
2002:
1997:
1992:
1986:
1984:
1980:
1979:
1977:
1976:
1974:Serum sickness
1971:
1966:
1961:
1956:
1951:
1946:
1940:
1938:
1931:
1928:Immune complex
1919:
1918:
1915:
1914:
1911:
1910:
1908:
1907:
1902:
1897:
1891:
1889:
1878:
1877:
1875:
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1869:
1864:
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1844:
1838:
1836:
1827:
1823:
1822:
1820:
1815:
1813:
1806:
1805:
1804:
1803:
1802:
1797:
1779:
1778:
1775:
1774:
1772:
1771:
1766:
1760:
1758:
1754:
1753:
1751:
1750:
1745:
1744:
1743:
1738:
1733:
1728:
1723:
1718:
1713:
1702:
1697:
1692:
1686:
1681:
1675:
1673:
1666:
1646:
1645:
1636:
1634:
1633:
1626:
1619:
1611:
1602:
1601:
1599:
1598:
1593:
1592:
1591:
1586:
1581:
1571:
1570:
1569:
1564:
1559:
1549:
1544:
1543:
1542:
1537:
1526:
1523:
1522:
1516:
1514:
1513:
1506:
1499:
1491:
1466:
1459:
1458:
1457:
1453:
1452:
1449:
1448:
1437:
1425:
1424:
1422:
1418:
1417:
1414:
1413:
1402:
1391:
1380:
1365:
1349:
1344:
1343:
1341:
1340:Classification
1334:
1333:
1326:
1325:External links
1323:
1321:
1320:
1275:
1232:
1186:
1184:
1181:
1179:
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1171:
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1097:
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973:
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859:10.1086/302145
829:
793:
764:
703:
623:
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522:
519:
518:
517:
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396:hypercalcaemia
392:interleukin 22
375:
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293:
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276:
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3019:
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3010:
3007:
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3002:
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2717:
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2708:
2705:
2704:
2703:
2702:
2698:
2694:
2691:
2690:
2689:
2688:
2684:
2683:
2681:
2677:
2669:
2666:
2665:
2664:
2663:
2659:
2655:
2652:
2650:
2647:
2646:
2645:
2644:
2640:
2636:
2633:
2632:
2631:
2630:
2626:
2622:
2619:
2618:
2617:
2616:
2612:
2608:
2605:
2604:
2603:
2602:
2598:
2594:
2591:
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2586:
2585:
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2551:
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2543:
2542:
2541:
2537:
2533:
2530:
2529:
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2527:
2523:
2519:
2516:
2514:
2511:
2510:
2509:
2508:
2504:
2503:
2501:
2497:
2494:
2490:
2480:
2477:
2476:
2474:
2470:
2464:
2461:
2459:
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2454:
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2441:
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2436:
2434:
2431:
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2422:
2421:
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2415:
2409:
2406:
2404:
2401:
2400:
2398:
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2182:
2179:
2177:
2174:
2172:
2169:
2168:
2166:
2162:
2156:
2153:
2150:
2149:Latex allergy
2147:
2143:
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2139:
2138:
2135:
2134:
2132:
2128:
2125:
2119:
2109:
2106:
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2051:
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2042:
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2037:
2036:
2034:
2030:
2027:
2024:
2019:
2018:cell-mediated
2015:
2011:
2001:
1998:
1996:
1993:
1991:
1988:
1987:
1985:
1981:
1975:
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1970:
1967:
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1962:
1960:
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1955:
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1949:Farmer's lung
1947:
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1313:
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1303:
1298:
1293:
1289:
1285:
1281:
1276:
1272:
1268:
1263:
1258:
1254:
1250:
1247:(3): 348â57.
1246:
1242:
1238:
1233:
1229:
1225:
1220:
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1205:
1201:
1197:
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1133:
1129:
1125:
1121:
1117:
1113:
1109:
1101:
1098:
1086:
1082:
1081:www.orpha.net
1078:
1071:
1069:
1067:
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1050:
1046:
1042:
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984:
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965:
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945:
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933:
926:
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865:
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836:
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808:
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682:
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669:
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650:
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644:
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634:
632:
630:
628:
624:
612:
608:
606:9781603272858
602:
598:
597:
589:
586:
574:
570:
564:
562:
558:
546:
542:
538:
532:
530:
526:
520:
516:
513:
511:
510:IPEX syndrome
508:
506:
503:
502:
498:
496:
489:
487:
485:
481:
477:
473:
469:
465:
457:
455:
453:
449:
445:
441:
432:
425:
423:
421:
417:
413:
409:
405:
401:
397:
393:
389:
385:
381:
373:
371:
369:
368:North America
365:
361:
357:
353:
349:
345:
341:
336:
334:
330:
326:
322:
321:chromosome 21
318:
314:
311:, encoding a
310:
308:
300:Chromosome 21
298:
291:
286:
283:
280:
277:
274:
271:
268:
267:Malabsorption
265:
262:
259:
256:
253:
250:
247:
244:
241:
240:
239:
233:
230:
227:
224:
221:
218:
215:
214:
213:
207:
205:
203:
199:
198:chromosome 21
195:
193:
188:
184:
180:
176:
172:
168:
164:
156:
152:
148:
145:
141:
137:
134:
132:
128:
124:
120:
117:
114:
112:
108:
105:
101:
100:Endocrinology
98:
96:
92:
87:
83:
78:
75:
73:
69:
65:
61:
59:
55:
50:
46:
43:
39:
34:
19:
3212:
3206:Corepressor:
3187:
3181:Coactivator:
3137:
3123:
3109:
3032:
3013:
2913:
2888:
2874:
2860:
2846:
2832:
2818:
2804:
2785:
2760:
2746:
2727:
2713:
2699:
2685:
2660:
2641:
2627:
2613:
2599:
2580:
2566:
2552:
2538:
2524:
2505:
2478:
2185:
2044:Mantoux test
1705:Food allergy
1534:
1476:
1475:
1474:profile for
1471:
1439:
1428:
1404:
1393:
1382:
1367:
1352:
1287:
1283:
1244:
1240:
1199:
1195:
1148:
1140:
1115:
1111:
1100:
1089:. Retrieved
1080:
1053:. Retrieved
1047:. Medscape.
1044:
990:
986:
976:
939:
935:
925:
900:
896:
892:
886:
849:
845:
820:. Retrieved
811:
785:. Retrieved
776:
767:
724:
720:
671:
665:
615:. Retrieved
595:
588:
577:. Retrieved
549:. Retrieved
540:
493:
461:
437:
418:may lead to
377:
355:
337:
324:
306:
303:
249:Hypogonadism
237:
211:
191:
179:autoimmunity
166:
162:
161:
62:
57:
53:
52:
48:
44:
1695:Anaphylaxis
1691:(Hay fever)
1161:. pp.
1159:McGraw-Hill
1055:20 November
537:"AIRE gene"
480:ruxolitinib
466:, systemic
151:antifungals
64:Candidiasis
41:Other names
3239:Categories
2164:Autoimmune
2053:Autoimmune
1983:Autoimmune
1826:Autoimmune
1757:Autoimmune
1406:DiseasesDB
1290:: 353250.
1091:2017-04-22
787:2017-04-16
617:2020-11-05
579:2017-04-04
551:2017-04-04
521:References
478:inhibitor
468:antifungal
404:calcitonin
352:stop codon
317:chromosome
181:. It is a
3260:Syndromes
3103:Ungrouped
1834:Cytotoxic
1589:Metageria
1584:Acrogeria
1430:eMedicine
1132:0028-4793
970:. 948350.
822:22 August
743:0021-972X
690:0021-972X
458:Treatment
452:endocrine
440:endoscopy
434:Endoscope
426:Diagnosis
406:from the
329:mutations
187:recessive
143:Treatment
95:Specialty
2123:multiple
2121:Unknown/
1923:Type III
1887:receptor
1736:Tree nut
1574:Progeria
1441:Orphanet
1435:med/1867
1316:23133448
1271:15008965
1228:27597936
1155:New York
1085:Archived
1049:Archived
1019:24167503
968:36072346
917:27504588
903:: 8â15.
816:Archived
781:Archived
751:28911151
698:22344197
611:Archived
573:Archived
569:"APECED"
545:Archived
499:See also
476:JAK-STAT
340:Sardinia
335:manner.
279:Cataract
261:Alopecia
255:Vitiligo
138:, biopsy
111:Symptoms
74:syndrome
2854:ACD/MPV
2130:Foreign
2032:Foreign
2023:T cells
2014:Type IV
1937:Foreign
1812:Foreign
1783:Type II
1726:Seafood
1672:Foreign
1654:allergy
1468:Scholia
1400:D016884
1307:3485503
1262:1808970
1219:4992815
1010:3805967
993:: 331.
959:9441485
878:9837820
869:1377639
759:3822560
490:History
444:CT scan
408:thyroid
364:Britain
344:Finland
313:protein
177:due to
136:CT scan
3189:CREBBP
3009:MODY 5
3004:MODY 3
2768:STHAG3
2721:MODY 9
2629:POU3F4
2621:DFNA15
2615:POU4F3
2560:MODY 4
2540:HOXD13
2448:MRX 89
2443:MODY 7
2377:MODY 1
2151:(I+IV)
1883:Type V
1721:Peanut
1650:Type I
1470:has a
1389:240300
1331:PubMed
1314:
1304:
1269:
1259:
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1169:
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807:"AIRE"
757:
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696:
688:
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474:. The
448:biopsy
360:Norway
323:. The
122:Causes
49:APECED
3131:TNDM1
3125:ZFP57
3034:SOX10
2890:FOXP3
2876:FOXL2
2862:FOXI1
2848:FOXF1
2834:FOXE3
2820:FOXE1
2806:FOXC2
2787:FOXC1
2635:DFNX2
2601:PITX2
2568:LMX1B
1990:Lupus
1741:Wheat
1658:atopy
1472:topic
1411:29212
1378:258.1
1363:E31.0
755:S2CID
416:NLRP5
292:Cause
167:APS-1
3161:OFC8
3139:TP63
3111:TCF4
3056:4.11
2915:IRF6
2896:IPEX
2762:PAX9
2748:PAX8
2729:PAX6
2715:PAX4
2701:PAX3
2687:PAX2
2662:ZEB2
2643:ZEB1
2593:OFC5
2582:MSX1
2554:PDX1
2526:MNX1
2350:CAIS
2345:MAIS
2340:PAIS
2191:APS2
2186:APS1
2100:GVHD
1787:ADCC
1716:Milk
1640:and
1540:APS2
1535:APS1
1446:3453
1395:MeSH
1384:OMIM
1373:9-CM
1312:PMID
1288:2012
1267:PMID
1224:PMID
1167:ISBN
1128:ISSN
1057:2020
1015:PMID
964:PMID
913:PMID
893:AIRE
874:PMID
824:2023
747:PMID
739:ISSN
694:PMID
686:ISSN
601:ISBN
446:, a
442:, a
398:and
386:and
366:and
356:AIRE
325:AIRE
309:gene
307:AIRE
192:AIRE
3083:0.6
3015:SF1
2992:4.7
2966:4.3
2950:4.2
2907:3.5
2779:3.3
2679:3.2
2507:ARX
2499:3.1
2472:2.5
2417:2.3
2396:2.2
2328:):
2318:2.1
2289:1.3
2268:1.2
1800:IgM
1795:IgG
1731:Soy
1711:Egg
1663:IgE
1369:ICD
1354:ICD
1302:PMC
1292:doi
1257:PMC
1249:doi
1245:135
1214:PMC
1204:doi
1163:103
1120:doi
1116:390
1005:PMC
995:doi
954:PMC
944:doi
905:doi
864:PMC
854:doi
729:doi
725:102
676:doi
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