76:
48:
349:
Autosomal dominant Hyper-IgE Syndrome caused by STAT3 defects, called Job
Syndrome, have characteristic facial, dental, and skeletal abnormalities. Patients with STAT3 HIES may have either delay of or failure in shedding of primary teeth. The characteristic facial features are usually set by age 16.
215:
gene after cytokine profiles indicated alterations in the STAT3 pathway. This altered pathway directly reduces the modulation capacity of interleukins 6 and 10 which, respectively, inhibit the genesis of Th17 cells that, in tandem with CD4 cells, protect against bacterial and fungal infections, and
1140:
Yaakoubi, Roukaya; Mekki, Najla; Ben-Mustapha, Imen; Ben-Khemis, Leila; Bouaziz, Asma; Ben Fraj, Ilhem; Ammar, Jamel; Hamzaoui, Agnès; Turki, Hamida; Boussofara, Lobna; Denguezli, Mohamed; Haddad, Samir; Ouederni, Monia; Bejaoui, Mohamed; Chan, Koon Wing; Lau, Yu Lung; Mellouli, Fethi; Barbouche,
139:. Inheritance can be autosomal dominant or autosomal recessive. Many patients with autosomal dominant STAT3 hyper-IgE syndrome have characteristic facial and dental abnormalities, fail to lose their primary teeth, and have two sets of teeth simultaneously.
1415:
1400:
1957:
2982:
1532:
1200:
422:
285:
Elevated IgE is the hallmark of HIES. An IgE level greater than 2,000 IU/mL is often considered diagnostic. However, patients younger than 6 months of age may have very low to non-detectable IgE levels.
378:
infections. Good skin care is also important in patients with hyper IgE syndrome. High-dose intravenous gamma-globulin has also been suggested for the treatment of severe eczema in patients with HIES and
1950:
391:
HIES was first described by Davis et al. in 1966 in two girls with red hair, chronic dermatitis, and recurrent staphylococcal abscesses and pneumonias. They named the disease after the biblical figure
471:
901:
Boos AC, Hagl B, Schlesinger A, Halm BE, Ballenberger N, Pinarci M, et al. (2014-05-20). "Atopic dermatitis, STAT3- and DOCK8-hyper-IgE syndromes differ in IgE-based sensitization pattern".
1943:
2870:
236:(DIDS) presents primarily with immune effects including HEIS. Eczema is prominent, food and environmental allergies are common, and asthma and anaphylaxis has been variably reported.
1525:
489:
1518:
2762:
2977:
412:
135:(balloon-like lesions that may be filled with air or pus or scar tissue) and very high (> 2000 IU/mL or 4800 mcg/L) concentrations of the serum antibody
592:
Borges WG, Augustine NH, Hill HR (February 2000). "Defective interleukin-12/interferon-gamma pathway in patients with hyperimmunoglobulinemia E syndrome".
2972:
1750:
1598:
2125:
1787:
2366:
2196:
2067:
290:
is also a common finding with greater than 90% of patients having eosinophil elevations greater than two standard deviations above the normal mean.
2557:
2057:
1914:
2987:
2962:
2089:
1616:
456:
2529:
2848:
2438:
2160:
2141:
2062:
245:
476:
2515:
1919:
1430:
2074:
981:"Human tyrosine kinase 2 deficiency reveals its requisite roles in multiple cytokine signals involved in innate and acquired immunity"
1935:
1080:
1368:
1854:
2165:
1771:
1682:
2084:
2052:
313:
240:
233:
350:
These include facial asymmetry, a prominent forehead, deep-set eyes, a broad nasal bridge, a wide, fleshy nasal tip, and mild
2099:
1924:
1794:
2912:
2543:
1296:
Buckley RH, Wray BB, Belmaker EZ (January 1972). "Extreme hyperimmunoglobulinemia E and undue susceptibility to infection".
2936:
403:, and elevated serum IgE levels. These two syndromes are thought to be the same and are under the broad category of HIES.
2324:
1997:
1661:
345:
HIES often appears early in life with recurrent staphylococcal and candidal infections, pneumonias, and eczematoid skin.
104:, is a heterogeneous group of immune disorders. Job's is also very rare at about 300 cases currently in the literature.
2643:
2585:
2571:
417:
2145:
2224:
1774:
1626:
1593:
2700:
2170:
2047:
2874:
2862:
2834:
2385:
2291:
1740:
2890:
2743:
2599:
2471:
2155:
1760:
1655:
1650:
1645:
1640:
1635:
1570:
1354:
2695:
2150:
1351:
1226:
Kimata H (March 1995). "High-dose intravenous gamma-globulin treatment for hyperimmunoglobulinemia E syndrome".
2780:
1809:
1557:
1444:
261:
1510:
1261:
Davis SD, Schaller J, Wedgwood RJ (May 1966). "Job's
Syndrome. Recurrent, "cold", staphylococcal abscesses".
2457:
2305:
2079:
1909:
1894:
1890:
2866:
2690:
2732:
2638:
2043:
1369:
Natural
History, Management, and Genetics of the hyperimmunoglobulin E Recurrent Infection syndrome (HIES)
2738:
2410:
2352:
2338:
2175:
2104:
1884:
1864:
1585:
181:
may present as HIES with characteristic facial, dental, and skeletal abnormalities that has been called
354:. Additionally, facial skin is rough with prominent pores. Finally, some patients with STAT3 HIES have
1020:
Kreins AY, Ciancanelli MJ, Okada S, Kong XF, RamĂrez-Alejo N, Kilic SS, et al. (September 2015).
2906:
2878:
2757:
2716:
2424:
2310:
1970:
1904:
1608:
936:
Yang L, Fliegauf M, Grimbacher B (December 2014). "Hyper-IgE syndromes: reviewing PGM3 deficiency".
75:
2967:
2371:
1419:
220:
163:
93:
2452:
2249:
2180:
1756:
1631:
1321:
961:
328:
265:
169:
159:
1099:
Grimbacher B, Holland SM, Gallin JI, Greenberg F, Hill SC, Malech HL, et al. (March 1999).
979:
Minegishi Y, Saito M, Morio T, Watanabe K, Agematsu K, Tsuchiya S, et al. (November 2006).
2510:
2230:
1992:
1725:
1716:
1701:
1545:
1484:
1455:
1313:
1278:
1243:
1182:
1164:
1122:
1076:
1051:
1002:
953:
918:
883:
829:
802:
761:
712:
663:
609:
574:
556:
452:
380:
333:
272:
182:
64:
399:. In 1972, Buckley et al. described two boys with similar symptoms as well as coarse facies,
2120:
1966:
1823:
1804:
1735:
1549:
1541:
1305:
1270:
1235:
1172:
1154:
1112:
1041:
1033:
992:
945:
910:
873:
865:
852:
Zhang Q, Davis JC, Lamborn IT, Freeman AF, Jing H, Favreau AJ, et al. (November 2009).
792:
751:
743:
702:
694:
653:
645:
601:
564:
548:
306:
152:
56:
2807:
2593:
2504:
1846:
1101:"Hyper-IgE syndrome with recurrent infections--an autosomal dominant multisystem disorder"
515:
318:
291:
249:
1070:
779:
Holland SM, DeLeo FR, Elloumi HZ, Hsu AP, Uzel G, Brodsky N, et al. (October 2007).
2263:
2013:
1899:
1799:
1621:
1177:
1142:
1046:
1021:
878:
853:
756:
731:
707:
682:
658:
633:
569:
536:
375:
186:
117:
1424:
1274:
1239:
1022:"Human TYK2 deficiency: Mycobacterial and viral infections without hyper-IgE syndrome"
605:
2956:
2613:
2235:
1325:
965:
1875:
1687:
1495:
400:
287:
132:
113:
1372:
17:
1449:
997:
980:
949:
747:
698:
649:
1479:
1117:
1100:
683:"Clinical manifestations, etiology, and pathogenesis of the hyper-IgE syndromes"
392:
351:
1498:
1460:
1364:
1159:
821:
216:
foster the inappropriate immune responses exhibited by those with Job
Syndrome.
2485:
1880:
1841:
1409:
1143:"Diagnostic challenge in a series of eleven patients with hyper IgE syndromes"
552:
371:
248:, may present as HIES with neurocognitive impairment and hypomyelination. See
148:
69:
1168:
560:
2931:
1490:
520:
355:
120:
1186:
1126:
1055:
1006:
957:
922:
887:
833:
806:
765:
716:
667:
613:
578:
1317:
1282:
1247:
869:
1831:
1566:
1309:
1037:
797:
780:
1392:
1360:
914:
185:. A common mnemonic used to remember the symptoms is FATED: coarse or
2726:
2721:
2346:
2332:
2277:
2257:
2094:
1706:
1575:
1404:
124:
1342:
276:
may present as HIES, although more often only with immunodeficiency.
732:"The Hyper-IgE Syndromes: Lessons in Nature, From Bench to Bedside"
634:"The Hyper-IgE Syndromes: Lessons in Nature, From Bench to Bedside"
2842:
2751:
2607:
2579:
2565:
2551:
2537:
2523:
2318:
2285:
530:
528:
396:
323:
302:
296:
256:
228:
211:
209:
ermatologic problems . The disease was linked to mutations in the
177:
447:
Rapini, Ronald P.; Bolognia, Jean L.; Jorizzo, Joseph L. (2007).
423:
List of dental abnormalities associated with cutaneous conditions
370:
Most patients with hyper IgE syndrome are treated with long-term
2856:
2828:
2632:
2479:
2465:
2446:
2432:
2418:
2404:
2379:
2360:
2299:
2271:
2243:
1438:
1435:
128:
1939:
1514:
136:
47:
2983:
Noninfectious immunodeficiency-related cutaneous conditions
1347:
854:"Combined immunodeficiency associated with DOCK8 mutations"
1072:
Williams
Hematology: Chapter 82. Immunodeficiency Diseases
260:
may present as HIES with skin and hair effects such as
123:(due to impaired recruitment of neutrophils), unusual
1365:
National
Institute of Allergy and Infectious Diseases
1382:
2923:
2898:
2889:
2820:
2800:
2793:
2773:
2709:
2683:
2667:
2658:
2624:
2496:
2396:
2216:
2209:
2189:
2134:
2113:
2035:
2026:
2006:
1985:
1978:
1863:
1840:
1822:
1770:
1700:
1675:
1607:
1584:
1565:
1556:
1470:
1386:
1141:Mohamed-Ridha; Ben-Ali, Meriem (January 10, 2023).
63:
37:
32:
2871:Ectrodactyly–ectodermal dysplasia–cleft syndrome 3
535:Freeman, Alexandra F.; Holland, Steven M. (2008).
155:by T lymphocytes is thought to cause the disease.
1367:(NIAID) (observational) study number 00-I-0159:
1075:(8th ed.). New York: McGraw-Hill Medical.
828:, Treasure Island (FL): StatPearls Publishing,
820:Hafsi, Wissem; Yarrarapu, Siva Naga S. (2021),
541:Immunology and Allergy Clinics of North America
1228:The Journal of Allergy and Clinical Immunology
730:Rael EL, Marshall RT, McClain JJ (July 2012).
632:Rael EL, Marshall RT, McClain JJ (July 2012).
2763:Yemenite deaf-blind hypopigmentation syndrome
1951:
1526:
1094:
1092:
8:
413:Isolated primary immunoglobulin M deficiency
781:"STAT3 mutations in the hyper-IgE syndrome"
516:Dermatologic Manifestations of Job Syndrome
2895:
2797:
2664:
2213:
2032:
1982:
1958:
1944:
1936:
1751:Purine nucleoside phosphorylase deficiency
1599:Transient hypogammaglobulinemia of infancy
1581:
1562:
1533:
1519:
1511:
1383:
1359:U.S. National Institutes of Health (NIH):
442:
440:
438:
74:
46:
29:
1176:
1158:
1116:
1045:
996:
877:
796:
755:
706:
657:
568:
2367:Posterior polymorphous corneal dystrophy
2197:Autoimmune polyendocrine syndrome type 1
1348:National Organization for Rare Disorders
358:, as well as bones that fracture easily.
2558:Anterior segment mesenchymal dysgenesis
434:
395:, whose body was covered with boils by
1915:Terminal complement pathway deficiency
1355:Autosomal Recessive Hyper IgE Syndrome
736:The World Allergy Organization Journal
638:The World Allergy Organization Journal
2090:X-linked adrenal hypoplasia congenita
1352:Autosomal Dominant Hyper IgE Syndrome
7:
2142:Greig cephalopolysyndactyly syndrome
1026:The Journal of Experimental Medicine
627:
625:
623:
472:"hyperimmunoglobulinemia E syndrome"
246:Congenital Disorder of Glycosylation
2978:IUIS-PID table 3 immunodeficiencies
2516:Iridogoniodysgenesis, dominant type
1920:Paroxysmal nocturnal hemoglobinuria
1105:The New England Journal of Medicine
858:The New England Journal of Medicine
785:The New England Journal of Medicine
681:Freeman AF, Holland SM (May 2009).
1069:Ochs, HD; Notarangelo, LD (2010).
112:It is characterized by recurrent "
86:Hyperimmunoglobulinemia E syndrome
25:
2973:Transcription factor deficiencies
166:inheritance have been described:
2530:Lymphedema–distichiasis syndrome
2126:Tricho–rhino–phalangeal syndrome
2100:Familial partial lipodystrophy 3
1683:Common variable immunodeficiency
2794:(0) Other transcription factors
2085:Estrogen insensitivity syndrome
2053:Androgen insensitivity syndrome
1855:Idiopathic CD4+ lymphocytopenia
234:DOCK8 Immunodeficiency Syndrome
151:due to decreased production of
2675:Hyperimmunoglobulin E syndrome
2080:PHA1AD pseudohypoaldosteronism
1925:Complement receptor deficiency
1795:Adenosine deaminase deficiency
1343:U.S. NIH Genetic Test Registry
496:. Merck Sharp & Dohme Corp
1:
2937:Atrichia with papular lesions
1275:10.1016/S0140-6736(66)90119-X
1240:10.1016/S0091-6749(95)70185-0
938:Current Opinion in Pediatrics
606:10.1016/S0022-3476(00)70098-9
2988:Syndromes affecting the lung
2963:Syndromes affecting immunity
2644:Popliteal pterygium syndrome
2586:Enlarged vestibular aqueduct
2425:Waardenburg syndrome 1&3
2210:(3) Helix-turn-helix domains
1969:relating to deficiencies of
1205:Immune Deficiency Foundation
998:10.1016/j.immuni.2006.09.009
950:10.1097/MOP.0000000000000158
748:10.1097/WOX.0b013e31825a73b2
699:10.1203/PDR.0b013e31819dc8c5
650:10.1097/WOX.0b013e31825a73b2
477:Dorland's Medical Dictionary
418:List of cutaneous conditions
2744:Premature ovarian failure 7
2600:Premature ovarian failure 3
2472:Congenital hypothyroidism 2
1594:X-linked agammaglobulinemia
1118:10.1056/NEJM199903043400904
547:(2). Elsevier BV: 277–291.
197:bscesses, retained primary
3004:
2891:Transcription coregulators
2661:with minor groove contacts
2048:Thyroid hormone resistance
1160:10.3389/fimmu.2022.1057679
131:infections that result in
127:-like skin rashes, severe
2913:Rubinstein–Taybi syndrome
2739:SRY XY gonadal dysgenesis
2544:Bamforth–Lazarus syndrome
2156:Duane-radial ray syndrome
2105:SF1 XY gonadal dysgenesis
1361:Clinical Research Studies
594:The Journal of Pediatrics
553:10.1016/j.iac.2008.01.005
537:"The Hyper-IgE Syndromes"
449:Dermatology: 2-Volume Set
54:
45:
2781:Cleidocranial dysostosis
1998:Saethre–Chotzen syndrome
1810:Bare lymphocyte syndrome
1662:Wiskott–Aldrich syndrome
262:trichorrhexis invaginata
2758:Waardenburg syndrome 4c
2458:Coloboma of optic nerve
2306:Tooth and nail syndrome
2146:Pallister–Hall syndrome
1910:Complement 3 deficiency
1895:Complement 4 deficiency
1891:Complement 2 deficiency
1147:Frontiers in Immunology
2701:Ulnar–mammary syndrome
2659:(4) β-Scaffold factors
2639:Van der Woude syndrome
2171:Townes–Brocks syndrome
2044:Intracellular receptor
1153:. Frontiers Media SA.
307:DOCK8 Immunodeficiency
2875:Limb–mammary syndrome
2863:Rapp–Hodgkin syndrome
2835:Pitt–Hopkins syndrome
2411:Papillorenal syndrome
2386:Mowat–Wilson syndrome
2292:Nail–patella syndrome
2176:Acrocallosal syndrome
1885:Hereditary angioedema
1741:Ataxia–telangiectasia
1586:Hypogammaglobulinemia
870:10.1056/NEJMoa0905506
55:The structure of the
2717:Campomelic dysplasia
2696:Li–Fraumeni syndrome
2181:Myotonic dystrophy 2
2151:Denys–Drash syndrome
1971:transcription factor
1905:Properdin deficiency
1726:Di George's syndrome
1609:Dysgammaglobulinemia
1310:10.1542/peds.49.1.59
1201:"Hyper IgE syndrome"
1038:10.1084/jem.20140280
798:10.1056/NEJMoa073687
490:"Hyper-IgE Syndrome"
451:. St. Louis: Mosby.
374:therapy to prevent
147:Abnormal neutrophil
2511:Axenfeld syndrome 3
2325:Axenfeld syndrome 1
2264:SPD1 synpolydactyly
2029:DNA-binding domains
693:(5 Pt 2): 32R–37R.
361:Autosomal recessive
264:(bamboo hair). See
221:Autosomal recessive
2867:Hay–Wells syndrome
2691:Holt–Oram syndrome
2453:Gillespie syndrome
2372:Fuchs' dystrophy 3
2250:Currarino syndrome
1757:Hyper IgM syndrome
1667:Hyper-IgE syndrome
1632:Hyper IgM syndrome
1548:disorders causing
1471:External resources
687:Pediatric Research
329:Netherton Syndrome
300:(Job's Syndrome),
266:Netherton Syndrome
201:eeth, increased Ig
170:Autosomal dominant
160:autosomal dominant
94:autosomal dominant
33:Hyper-IgE syndrome
18:Hyper-IgE syndrome
2950:
2949:
2946:
2945:
2816:
2815:
2789:
2788:
2654:
2653:
2231:Ohtahara syndrome
2205:
2204:
2075:Kennedy's disease
2022:
2021:
1993:Feingold syndrome
1979:(1) Basic domains
1967:Genetic disorders
1933:
1932:
1818:
1817:
1717:thymic hypoplasia
1702:T cell deficiency
1696:
1695:
1508:
1507:
915:10.1111/all.12416
458:978-1-4160-2999-1
381:atopic dermatitis
337:genetic defects.
294:is available for
83:
82:
27:Medical condition
16:(Redirected from
2995:
2896:
2798:
2665:
2236:Lissencephaly X2
2214:
2121:Barakat syndrome
2033:
1983:
1960:
1953:
1946:
1937:
1805:ZAP70 deficiency
1736:Nezelof syndrome
1582:
1563:
1550:immunodeficiency
1535:
1528:
1521:
1512:
1384:
1330:
1329:
1293:
1287:
1286:
1269:(7445): 1013–5.
1258:
1252:
1251:
1223:
1217:
1216:
1214:
1212:
1207:. August 9, 2023
1197:
1191:
1190:
1180:
1162:
1137:
1131:
1130:
1120:
1096:
1087:
1086:
1066:
1060:
1059:
1049:
1017:
1011:
1010:
1000:
976:
970:
969:
933:
927:
926:
898:
892:
891:
881:
849:
843:
842:
841:
840:
817:
811:
810:
800:
776:
770:
769:
759:
727:
721:
720:
710:
678:
672:
671:
661:
629:
618:
617:
589:
583:
582:
572:
532:
523:
512:
506:
505:
503:
501:
486:
480:
469:
463:
462:
444:
153:interferon gamma
102:Buckley syndrome
92:), of which the
79:
78:
57:Immunoglobulin E
50:
30:
21:
3003:
3002:
2998:
2997:
2996:
2994:
2993:
2992:
2953:
2952:
2951:
2942:
2919:
2885:
2812:
2808:Kabuki syndrome
2785:
2769:
2705:
2679:
2660:
2650:
2620:
2492:
2392:
2201:
2185:
2130:
2109:
2028:
2027:(2) Zinc finger
2018:
2002:
1974:
1973:or coregulators
1964:
1934:
1929:
1866:
1859:
1847:Lymphocytopenia
1845:
1836:
1814:
1790:
1777:
1766:
1722:hypoparathyroid
1704:
1692:
1671:
1603:
1573:
1552:
1539:
1509:
1504:
1503:
1466:
1465:
1395:
1381:
1339:
1337:Further reading
1334:
1333:
1295:
1294:
1290:
1260:
1259:
1255:
1225:
1224:
1220:
1210:
1208:
1199:
1198:
1194:
1139:
1138:
1134:
1098:
1097:
1090:
1083:
1068:
1067:
1063:
1032:(10): 1641–62.
1019:
1018:
1014:
978:
977:
973:
935:
934:
930:
900:
899:
895:
864:(21): 2046–55.
851:
850:
846:
838:
836:
819:
818:
814:
791:(16): 1608–19.
778:
777:
773:
729:
728:
724:
680:
679:
675:
631:
630:
621:
591:
590:
586:
534:
533:
526:
513:
509:
499:
497:
488:
487:
483:
470:
466:
459:
446:
445:
436:
431:
409:
389:
368:
343:
319:PGM3 deficiency
292:Genetic testing
283:
250:PGM3 deficiency
145:
143:Pathophysiology
110:
96:form is called
73:
59:(IgE) antibody.
28:
23:
22:
15:
12:
11:
5:
3001:
2999:
2991:
2990:
2985:
2980:
2975:
2970:
2965:
2955:
2954:
2948:
2947:
2944:
2943:
2941:
2940:
2927:
2925:
2921:
2920:
2918:
2917:
2916:
2915:
2902:
2900:
2893:
2887:
2886:
2884:
2883:
2882:
2881:
2853:
2852:
2851:
2839:
2838:
2837:
2824:
2822:
2818:
2817:
2814:
2813:
2811:
2810:
2804:
2802:
2795:
2791:
2790:
2787:
2786:
2784:
2783:
2777:
2775:
2771:
2770:
2768:
2767:
2766:
2765:
2760:
2748:
2747:
2746:
2741:
2729:
2724:
2719:
2713:
2711:
2707:
2706:
2704:
2703:
2698:
2693:
2687:
2685:
2681:
2680:
2678:
2677:
2671:
2669:
2662:
2656:
2655:
2652:
2651:
2649:
2648:
2647:
2646:
2641:
2628:
2626:
2622:
2621:
2619:
2618:
2617:
2616:
2604:
2603:
2602:
2590:
2589:
2588:
2576:
2575:
2574:
2562:
2561:
2560:
2548:
2547:
2546:
2534:
2533:
2532:
2520:
2519:
2518:
2513:
2500:
2498:
2494:
2493:
2491:
2490:
2489:
2488:
2476:
2475:
2474:
2462:
2461:
2460:
2455:
2443:
2442:
2441:
2429:
2428:
2427:
2415:
2414:
2413:
2400:
2398:
2394:
2393:
2391:
2390:
2389:
2388:
2376:
2375:
2374:
2369:
2357:
2356:
2355:
2343:
2342:
2341:
2329:
2328:
2327:
2315:
2314:
2313:
2308:
2296:
2295:
2294:
2282:
2281:
2280:
2268:
2267:
2266:
2254:
2253:
2252:
2240:
2239:
2238:
2233:
2220:
2218:
2211:
2207:
2206:
2203:
2202:
2200:
2199:
2193:
2191:
2187:
2186:
2184:
2183:
2178:
2173:
2168:
2163:
2158:
2153:
2148:
2138:
2136:
2132:
2131:
2129:
2128:
2123:
2117:
2115:
2111:
2110:
2108:
2107:
2102:
2097:
2092:
2087:
2082:
2077:
2072:
2071:
2070:
2065:
2060:
2050:
2039:
2037:
2030:
2024:
2023:
2020:
2019:
2017:
2016:
2014:Tietz syndrome
2010:
2008:
2004:
2003:
2001:
2000:
1995:
1989:
1987:
1980:
1976:
1975:
1965:
1963:
1962:
1955:
1948:
1940:
1931:
1930:
1928:
1927:
1922:
1917:
1912:
1907:
1902:
1900:MBL deficiency
1897:
1888:
1871:
1869:
1861:
1860:
1858:
1857:
1851:
1849:
1838:
1837:
1835:
1834:
1828:
1826:
1820:
1819:
1816:
1815:
1813:
1812:
1807:
1802:
1800:Omenn syndrome
1797:
1781:
1779:
1768:
1767:
1765:
1764:
1745:
1744:
1738:
1729:
1712:
1710:
1698:
1697:
1694:
1693:
1691:
1690:
1685:
1679:
1677:
1673:
1672:
1670:
1669:
1664:
1659:
1653:
1648:
1643:
1638:
1629:
1627:IgM deficiency
1624:
1622:IgG deficiency
1619:
1617:IgA deficiency
1613:
1611:
1605:
1604:
1602:
1601:
1596:
1590:
1588:
1579:
1560:
1554:
1553:
1540:
1538:
1537:
1530:
1523:
1515:
1506:
1505:
1502:
1501:
1487:
1475:
1474:
1472:
1468:
1467:
1464:
1463:
1452:
1441:
1427:
1412:
1396:
1391:
1390:
1388:
1387:Classification
1380:
1379:External links
1377:
1376:
1375:
1357:
1345:
1338:
1335:
1332:
1331:
1288:
1253:
1218:
1192:
1132:
1111:(9): 692–702.
1088:
1081:
1061:
1012:
971:
944:(6): 697–703.
928:
909:(7): 943–953.
893:
844:
822:"Job Syndrome"
812:
771:
722:
673:
619:
584:
524:
507:
481:
464:
457:
433:
432:
430:
427:
426:
425:
420:
415:
408:
405:
388:
385:
376:staphylococcal
367:
364:
363:
362:
359:
342:
339:
282:
279:
278:
277:
269:
253:
237:
218:
217:
183:Job's Syndrome
144:
141:
118:staphylococcal
109:
106:
98:Job's syndrome
81:
80:
67:
61:
60:
52:
51:
43:
42:
39:
35:
34:
26:
24:
14:
13:
10:
9:
6:
4:
3:
2:
3000:
2989:
2986:
2984:
2981:
2979:
2976:
2974:
2971:
2969:
2966:
2964:
2961:
2960:
2958:
2938:
2934:
2933:
2929:
2928:
2926:
2922:
2914:
2911:
2910:
2909:
2908:
2904:
2903:
2901:
2897:
2894:
2892:
2888:
2880:
2876:
2872:
2868:
2864:
2861:
2860:
2859:
2858:
2854:
2850:
2847:
2846:
2845:
2844:
2840:
2836:
2833:
2832:
2831:
2830:
2826:
2825:
2823:
2819:
2809:
2806:
2805:
2803:
2799:
2796:
2792:
2782:
2779:
2778:
2776:
2772:
2764:
2761:
2759:
2756:
2755:
2754:
2753:
2749:
2745:
2742:
2740:
2737:
2736:
2735:
2734:
2730:
2728:
2725:
2723:
2720:
2718:
2715:
2714:
2712:
2708:
2702:
2699:
2697:
2694:
2692:
2689:
2688:
2686:
2682:
2676:
2673:
2672:
2670:
2666:
2663:
2657:
2645:
2642:
2640:
2637:
2636:
2635:
2634:
2630:
2629:
2627:
2623:
2615:
2612:
2611:
2610:
2609:
2605:
2601:
2598:
2597:
2596:
2595:
2591:
2587:
2584:
2583:
2582:
2581:
2577:
2573:
2570:
2569:
2568:
2567:
2563:
2559:
2556:
2555:
2554:
2553:
2549:
2545:
2542:
2541:
2540:
2539:
2535:
2531:
2528:
2527:
2526:
2525:
2521:
2517:
2514:
2512:
2509:
2508:
2507:
2506:
2502:
2501:
2499:
2495:
2487:
2484:
2483:
2482:
2481:
2477:
2473:
2470:
2469:
2468:
2467:
2463:
2459:
2456:
2454:
2451:
2450:
2449:
2448:
2444:
2440:
2437:
2436:
2435:
2434:
2430:
2426:
2423:
2422:
2421:
2420:
2416:
2412:
2409:
2408:
2407:
2406:
2402:
2401:
2399:
2395:
2387:
2384:
2383:
2382:
2381:
2377:
2373:
2370:
2368:
2365:
2364:
2363:
2362:
2358:
2354:
2351:
2350:
2349:
2348:
2344:
2340:
2337:
2336:
2335:
2334:
2330:
2326:
2323:
2322:
2321:
2320:
2316:
2312:
2309:
2307:
2304:
2303:
2302:
2301:
2297:
2293:
2290:
2289:
2288:
2287:
2283:
2279:
2276:
2275:
2274:
2273:
2269:
2265:
2262:
2261:
2260:
2259:
2255:
2251:
2248:
2247:
2246:
2245:
2241:
2237:
2234:
2232:
2229:
2228:
2227:
2226:
2222:
2221:
2219:
2215:
2212:
2208:
2198:
2195:
2194:
2192:
2188:
2182:
2179:
2177:
2174:
2172:
2169:
2167:
2164:
2162:
2159:
2157:
2154:
2152:
2149:
2147:
2143:
2140:
2139:
2137:
2133:
2127:
2124:
2122:
2119:
2118:
2116:
2112:
2106:
2103:
2101:
2098:
2096:
2093:
2091:
2088:
2086:
2083:
2081:
2078:
2076:
2073:
2069:
2066:
2064:
2061:
2059:
2056:
2055:
2054:
2051:
2049:
2045:
2041:
2040:
2038:
2034:
2031:
2025:
2015:
2012:
2011:
2009:
2005:
1999:
1996:
1994:
1991:
1990:
1988:
1984:
1981:
1977:
1972:
1968:
1961:
1956:
1954:
1949:
1947:
1942:
1941:
1938:
1926:
1923:
1921:
1918:
1916:
1913:
1911:
1908:
1906:
1903:
1901:
1898:
1896:
1892:
1889:
1886:
1882:
1878:
1877:
1873:
1872:
1870:
1868:
1862:
1856:
1853:
1852:
1850:
1848:
1843:
1839:
1833:
1830:
1829:
1827:
1825:
1821:
1811:
1808:
1806:
1803:
1801:
1798:
1796:
1793:
1789:
1786:
1783:
1782:
1780:
1776:
1773:
1769:
1762:
1758:
1755:
1754:
1753:
1752:
1749:
1742:
1739:
1737:
1733:
1732:euparathyroid
1730:
1727:
1723:
1720:
1718:
1714:
1713:
1711:
1708:
1703:
1699:
1689:
1686:
1684:
1681:
1680:
1678:
1674:
1668:
1665:
1663:
1660:
1657:
1654:
1652:
1649:
1647:
1644:
1642:
1639:
1637:
1633:
1630:
1628:
1625:
1623:
1620:
1618:
1615:
1614:
1612:
1610:
1606:
1600:
1597:
1595:
1592:
1591:
1589:
1587:
1583:
1580:
1577:
1572:
1568:
1564:
1561:
1559:
1555:
1551:
1547:
1543:
1536:
1531:
1529:
1524:
1522:
1517:
1516:
1513:
1500:
1497:
1493:
1492:
1488:
1486:
1482:
1481:
1477:
1476:
1473:
1469:
1462:
1458:
1457:
1453:
1451:
1447:
1446:
1442:
1440:
1437:
1433:
1432:
1428:
1426:
1422:
1421:
1417:
1413:
1411:
1407:
1406:
1402:
1398:
1397:
1394:
1389:
1385:
1378:
1374:
1370:
1366:
1362:
1358:
1356:
1353:
1349:
1346:
1344:
1341:
1340:
1336:
1327:
1323:
1319:
1315:
1311:
1307:
1303:
1299:
1292:
1289:
1284:
1280:
1276:
1272:
1268:
1264:
1257:
1254:
1249:
1245:
1241:
1237:
1233:
1229:
1222:
1219:
1206:
1202:
1196:
1193:
1188:
1184:
1179:
1174:
1170:
1166:
1161:
1156:
1152:
1148:
1144:
1136:
1133:
1128:
1124:
1119:
1114:
1110:
1106:
1102:
1095:
1093:
1089:
1084:
1082:9780071621519
1078:
1074:
1073:
1065:
1062:
1057:
1053:
1048:
1043:
1039:
1035:
1031:
1027:
1023:
1016:
1013:
1008:
1004:
999:
994:
991:(5): 745–55.
990:
986:
982:
975:
972:
967:
963:
959:
955:
951:
947:
943:
939:
932:
929:
924:
920:
916:
912:
908:
904:
897:
894:
889:
885:
880:
875:
871:
867:
863:
859:
855:
848:
845:
835:
831:
827:
823:
816:
813:
808:
804:
799:
794:
790:
786:
782:
775:
772:
767:
763:
758:
753:
749:
745:
741:
737:
733:
726:
723:
718:
714:
709:
704:
700:
696:
692:
688:
684:
677:
674:
669:
665:
660:
655:
651:
647:
643:
639:
635:
628:
626:
624:
620:
615:
611:
607:
603:
600:(2): 176–80.
599:
595:
588:
585:
580:
576:
571:
566:
562:
558:
554:
550:
546:
542:
538:
531:
529:
525:
522:
518:
517:
511:
508:
495:
491:
485:
482:
479:
478:
473:
468:
465:
460:
454:
450:
443:
441:
439:
435:
428:
424:
421:
419:
416:
414:
411:
410:
406:
404:
402:
398:
394:
386:
384:
382:
377:
373:
365:
360:
357:
353:
348:
347:
346:
340:
338:
336:
335:
330:
326:
325:
320:
316:
315:
310:
308:
304:
299:
298:
293:
289:
280:
275:
274:
270:
267:
263:
259:
258:
254:
251:
247:
243:
242:
238:
235:
232:
230:
226:
225:
224:
222:
214:
213:
208:
204:
200:
196:
193:, cold staph
192:
190:
184:
180:
179:
175:
174:
173:
171:
167:
165:
161:
156:
154:
150:
142:
140:
138:
134:
133:pneumatoceles
130:
126:
122:
119:
115:
107:
105:
103:
99:
95:
91:
87:
77:
71:
68:
66:
62:
58:
53:
49:
44:
40:
36:
31:
19:
2930:
2924:Corepressor:
2905:
2899:Coactivator:
2855:
2841:
2827:
2750:
2731:
2674:
2631:
2606:
2592:
2578:
2564:
2550:
2536:
2522:
2503:
2478:
2464:
2445:
2431:
2417:
2403:
2378:
2359:
2345:
2331:
2317:
2298:
2284:
2270:
2256:
2242:
2223:
1876:C1-inhibitor
1874:
1791:
1784:
1747:
1746:
1731:
1721:
1715:
1688:ICF syndrome
1666:
1489:
1478:
1454:
1443:
1429:
1414:
1399:
1304:(1): 59–70.
1301:
1297:
1291:
1266:
1262:
1256:
1234:(3): 771–4.
1231:
1227:
1221:
1209:. Retrieved
1204:
1195:
1150:
1146:
1135:
1108:
1104:
1071:
1064:
1029:
1025:
1015:
988:
984:
974:
941:
937:
931:
906:
902:
896:
861:
857:
847:
837:, retrieved
825:
815:
788:
784:
774:
742:(7): 79–87.
739:
735:
725:
690:
686:
676:
644:(7): 79–87.
641:
637:
597:
593:
587:
544:
540:
514:
510:
498:. Retrieved
494:Merck Manual
493:
484:
475:
467:
448:
401:eosinophilia
390:
369:
344:
332:
331:- NTS), and
322:
312:
301:
295:
288:Eosinophilia
284:
271:
255:
239:
227:
219:
210:
206:
202:
198:
194:
188:
176:
168:
157:
146:
111:
108:Presentation
101:
97:
89:
85:
84:
1748:peripheral:
1480:MedlinePlus
1373:NCT00006150
1211:October 14,
352:prognathism
38:Other names
2968:Pediatrics
2957:Categories
1881:Angioedema
1867:deficiency
1865:Complement
1842:Leukopenia
1792:autosomal:
1546:complement
1456:DiseasesDB
1298:Pediatrics
839:2021-11-28
826:StatPearls
429:References
372:antibiotic
149:chemotaxis
121:infections
70:Immunology
2821:Ungrouped
1785:x-linked:
1491:eMedicine
1326:245107427
1169:1664-3224
561:0889-8561
521:eMedicine
366:Treatment
356:scoliosis
281:Diagnosis
164:recessive
65:Specialty
1832:HIV/AIDS
1824:Acquired
1775:combined
1567:Antibody
1542:Lymphoid
1499:ped/1074
1496:derm/845
1187:36703986
1127:10053178
1056:26304966
1007:17088085
985:Immunity
966:24566050
958:25365149
923:24840882
888:19776401
834:30247822
807:17881745
766:23283142
717:19190525
668:23283142
614:10657822
579:18424333
500:3 August
407:See also
309:or DIDS)
187:leonine
2572:ACD/MPV
1571:humoral
1558:Primary
1450:D007589
1318:5059313
1283:4161105
1248:7897163
1178:9871884
1047:4577846
903:Allergy
879:2965730
757:3651150
708:2919366
659:3651150
570:2683262
387:History
2907:CREBBP
2727:MODY 5
2722:MODY 3
2486:STHAG3
2439:MODY 9
2347:POU3F4
2339:DFNA15
2333:POU4F3
2278:MODY 4
2258:HOXD13
2166:MRX 89
2161:MODY 7
2095:MODY 1
1788:X-SCID
1772:Severe
1485:001311
1439:147060
1436:243700
1324:
1316:
1281:
1263:Lancet
1246:
1185:
1175:
1167:
1125:
1079:
1054:
1044:
1005:
964:
956:
921:
886:
876:
832:
805:
764:
754:
715:
705:
666:
656:
612:
577:
567:
559:
455:
324:SPINK5
268:(NTS).
257:SPINK5
205:, and
125:eczema
72:
2849:TNDM1
2843:ZFP57
2752:SOX10
2608:FOXP3
2594:FOXL2
2580:FOXI1
2566:FOXF1
2552:FOXE3
2538:FOXE1
2524:FOXC2
2505:FOXC1
2353:DFNX2
2319:PITX2
2286:LMX1B
1778:(B+T)
1676:Other
1461:29572
1425:288.1
1410:D82.4
1322:S2CID
962:S2CID
397:Satan
341:Types
303:DOCK8
297:STAT3
229:DOCK8
212:STAT3
191:acies
178:STAT3
158:Both
2879:OFC8
2857:TP63
2829:TCF4
2774:4.11
2633:IRF6
2614:IPEX
2480:PAX9
2466:PAX8
2447:PAX6
2433:PAX4
2419:PAX3
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