255:
34:
281:
efficiently switch to other types of antibodies as needed to attack invading bacteria, viruses, and other pathogens. In people with hyper IgM syndromes, the B cells keep making IgM antibodies because can not switch to a different antibody. This results in an overproduction of IgM antibodies and an
883:
958:
212:(PCP), which is common in infants with hyper IgM syndrome, is a serious illness. PCP is one of the most frequent and severe opportunistic infections in people with weakened immune systems.
951:
944:
1176:
1024:
1213:
1340:
1042:
369:
1345:
895:
1280:
1371:
1197:
1108:
1350:
1220:
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178:(Ig) class switch recombination deficiencies are characterized by elevated serum IgM levels and a considerable deficiency in
167:
685:
1087:
1200:
1052:
1019:
1166:
1186:
1076:
1071:
1066:
1061:
996:
1235:
983:
152:
936:
1376:
1335:
1320:
1316:
341:
315:
924:
686:"Hyper-Immunoglobulin M (Hyper-IgM) Syndromes | NIH: National Institute of Allergy and Infectious Diseases"
206:
101:
769:"Hyper immunoglobulin M syndrome due to CD40 deficiency: clinical, molecular, and immunological features"
314:. When there is a defect in CD40, this leads to defective T-cell interaction with B cells. Consequently,
1310:
1290:
1011:
171:
1330:
1034:
109:
1182:
1057:
818:
798:
373:
365:
90:
48:
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971:
790:
749:
731:
667:
659:
582:
66:
1249:
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1161:
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967:
780:
739:
723:
649:
287:
254:
187:
183:
179:
137:
125:
117:
89:
has been characterized in three patients from France and Japan. The symptoms are similar to
41:
403:"X-linked Immunodeficiency With Hyper IgM Clinical Presentation: History, Physical, Causes"
1272:
311:
190:(IgE). As a consequence, people with HIGM have an increased susceptibility to infections.
113:
402:
1325:
1225:
1047:
744:
711:
654:
637:
303:
242:
227:
175:
1365:
785:
768:
727:
326:
The diagnosis of hyper IgM syndrome can be done via the following methods and tests:
262:
Different genetic defects cause HIgM syndrome, the vast majority are inherited as an
1301:
1113:
802:
336:
232:
1306:
1267:
574:
362:
346:
735:
663:
237:
215:
202:
794:
753:
671:
586:
573:
Johnson, Judith; Filipovich, Alexandra H.; Zhang, Kejian (1 January 1993).
1257:
992:
919:
274:
270:
263:
222:
133:
875:
609:"OMIM Entry – # 608106 – IMMUNODEFICIENCY WITH HYPER-IgM, TYPE 5; HIGM5"
515:"OMIM Entry – # 608106 – IMMUNODEFICIENCY WITH HYPER-IgM, TYPE 5; HIGM5"
487:"OMIM Entry – # 606843 – IMMUNODEFICIENCY WITH HYPER-IgM, TYPE 3; HIGM3"
459:"OMIM Entry – # 605258 – IMMUNODEFICIENCY WITH HYPER-IgM, TYPE 2; HIGM2"
431:"OMIM Entry – # 308230 – IMMUNODEFICIENCY WITH HYPER-IgM, TYPE 1; HIGM1"
278:
33:
540:"OMIM Entry – 608184 – IMMUNODEFICIENCY WITH HYPER-IgM, TYPE 4; HIGM4"
100:
These three patients instead had mutations in the catalytic domain of
1132:
1001:
887:
163:
129:
844:
539:
486:
430:
361:
In terms of treatment for hyper IgM syndrome, there is the use of
307:
94:
900:
608:
156:
940:
514:
458:
368:
transplantation. Additionally, anti-microbial therapy, use of
330:
291:
283:
266:
recessive genetic trait and most with the condition are male.
121:
105:
132:
can not carry out the gene recombination steps necessary to
710:
Davies, E Graham; Thrasher, Adrian J (27 November 2016).
318:
is affected. Patients are more susceptible to infection.
273:
that all B cells produce initially before they undergo
767:
Lougaris V, Badolato R, Ferrari S, Plebani A (2005).
306:
receptor on B cells that, when bound to CD40 ligand (
198:
Hyper IgM syndrome can have the following syndromes:
865:
1289:
1266:
1248:
1196:
1126:
1101:
1033:
1010:
991:
982:
910:
869:
75:
65:
57:
47:
26:
712:"Update on the hyper immunoglobulin M syndromes"
140:(IgM) to the other three immunoglobulins types.
636:Etzioni, Amos; Ochs, Hans D. (1 October 2004).
376:, as well as other treatments, may be needed.
952:
79:Allogeneic hematopoietic cell transplantation
8:
1177:Purine nucleoside phosphorylase deficiency
1025:Transient hypogammaglobulinemia of infancy
1007:
988:
959:
945:
937:
866:
638:"The Hyper IgM Syndrome—An Evolving Story"
71:MRI, Chest radiography and genetic testing
32:
23:
784:
743:
653:
253:
385:
1341:Terminal complement pathway deficiency
397:
395:
393:
391:
389:
631:
629:
568:
566:
564:
562:
560:
509:
507:
481:
479:
453:
451:
425:
423:
370:granulocyte colony-stimulating factor
104:, an enzyme that removes uracil from
61:Hyper-IgM syndrome type 1,2,3,4 and 5
7:
1346:Paroxysmal nocturnal hemoglobinuria
153:primary immune deficiency disorders
128:types since the antibody producing
655:10.1203/01.PDR.0000139318.65842.4A
16:Primary immune deficiency disorder
14:
352:Laboratory test (to measure CD40)
1109:Common variable immunodeficiency
786:10.1111/j.0105-2896.2005.00229.x
728:10.1111/j.1365-2141.2010.08077.x
112:, patients are deficient in the
87:fifth type of hyper-IgM syndrome
1281:Idiopathic CD4+ lymphocytopenia
1351:Complement receptor deficiency
1221:Adenosine deaminase deficiency
716:British Journal of Haematology
1:
819:"X-linked hyper IgM syndrome"
575:"X-Linked Hyper IgM Syndrome"
1020:X-linked agammaglobulinemia
155:characterized by defective
1393:
843:Reference, Genetics Home.
817:Reference, Genetics Home.
258:Class switch recombination
168:class switch recombination
310:), sends a signal to the
40:
31:
27:Hyper IgM syndrome type 5
1236:Bare lymphocyte syndrome
1088:Wiskott–Aldrich syndrome
1372:Immune system disorders
1336:Complement 3 deficiency
1321:Complement 4 deficiency
1317:Complement 2 deficiency
849:Genetics Home Reference
823:Genetics Home Reference
342:Pulmonary function test
316:humoral immune response
407:emedicine.medscape.com
259:
102:uracil-DNA glycosylase
1311:Hereditary angioedema
1167:Ataxia–telangiectasia
1012:Hypogammaglobulinemia
257:
172:somatic hypermutation
1331:Properdin deficiency
1152:Di George's syndrome
1035:Dysgammaglobulinemia
807:subscription needed
282:underproduction of
269:IgM is the form of
149:Hyper IgM syndromes
144:Hyper IgM syndromes
110:hyper-IgM syndromes
1183:Hyper IgM syndrome
1093:Hyper-IgE syndrome
1058:Hyper IgM syndrome
974:disorders causing
911:External resources
642:Pediatric Research
374:immunosuppressants
366:hematopoietic cell
260:
194:Signs and symptoms
91:hyper IgM syndrome
1359:
1358:
1244:
1243:
1143:thymic hypoplasia
1128:T cell deficiency
1122:
1121:
934:
933:
180:Immunoglobulins G
83:
82:
67:Diagnostic method
21:Medical condition
1384:
1231:ZAP70 deficiency
1162:Nezelof syndrome
1008:
989:
976:immunodeficiency
961:
954:
947:
938:
867:
860:
859:
857:
855:
840:
834:
833:
831:
829:
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808:
806:
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758:
757:
747:
707:
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682:
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633:
624:
623:
621:
619:
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570:
555:
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536:
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511:
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483:
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469:
455:
446:
445:
443:
441:
427:
418:
417:
415:
413:
399:
138:immunoglobulin M
97:gene is intact.
93:type 2, but the
53:Chronic diarrhea
42:Immunoglobulin M
36:
24:
1392:
1391:
1387:
1386:
1385:
1383:
1382:
1381:
1362:
1361:
1360:
1355:
1292:
1285:
1273:Lymphocytopenia
1271:
1262:
1240:
1216:
1203:
1192:
1148:hypoparathyroid
1130:
1118:
1097:
1029:
999:
978:
965:
935:
930:
929:
906:
905:
878:
864:
863:
853:
851:
842:
841:
837:
827:
825:
816:
815:
811:
766:
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709:
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684:
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635:
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627:
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439:
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429:
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400:
387:
382:
359:
324:
312:B-cell receptor
300:
298:Pathophysiology
275:class switching
252:
196:
146:
114:immunoglobulins
22:
17:
12:
11:
5:
1390:
1388:
1380:
1379:
1377:Rare syndromes
1374:
1364:
1363:
1357:
1356:
1354:
1353:
1348:
1343:
1338:
1333:
1328:
1326:MBL deficiency
1323:
1314:
1297:
1295:
1287:
1286:
1284:
1283:
1277:
1275:
1264:
1263:
1261:
1260:
1254:
1252:
1246:
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1241:
1239:
1238:
1233:
1228:
1226:Omenn syndrome
1223:
1207:
1205:
1194:
1193:
1191:
1190:
1171:
1170:
1164:
1155:
1138:
1136:
1124:
1123:
1120:
1119:
1117:
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1111:
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1103:
1099:
1098:
1096:
1095:
1090:
1085:
1079:
1074:
1069:
1064:
1055:
1053:IgM deficiency
1050:
1048:IgG deficiency
1045:
1043:IgA deficiency
1039:
1037:
1031:
1030:
1028:
1027:
1022:
1016:
1014:
1005:
986:
980:
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928:
927:
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914:
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904:
903:
892:
879:
874:
873:
871:
870:Classification
862:
861:
835:
809:
759:
722:(2): 167–180.
702:
677:
648:(4): 519–525.
625:
600:
556:
531:
503:
475:
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419:
384:
383:
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354:
353:
350:
344:
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323:
320:
299:
296:
251:
248:
247:
246:
245:(degenerative)
243:Encephalopathy
240:
235:
230:
228:Hypothyroidism
225:
219:
213:
195:
192:
176:Immunoglobulin
151:is a group of
145:
142:
81:
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73:
72:
69:
63:
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55:
54:
51:
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38:
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29:
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1234:
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1195:
1188:
1184:
1181:
1180:
1179:
1178:
1175:
1168:
1165:
1163:
1159:
1158:euparathyroid
1156:
1153:
1149:
1146:
1144:
1140:
1139:
1137:
1134:
1129:
1125:
1115:
1112:
1110:
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1104:
1100:
1094:
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1086:
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1080:
1078:
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1040:
1038:
1036:
1032:
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1021:
1018:
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1015:
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1009:
1006:
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987:
985:
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977:
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962:
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950:
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917:
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872:
868:
850:
846:
839:
836:
824:
820:
813:
810:
804:
800:
796:
792:
787:
782:
778:
774:
770:
763:
760:
755:
751:
746:
741:
737:
733:
729:
725:
721:
717:
713:
706:
703:
691:
690:niaid.nih.gov
687:
681:
678:
673:
669:
665:
661:
656:
651:
647:
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639:
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610:
604:
601:
588:
584:
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563:
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545:
541:
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532:
520:
516:
510:
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329:
328:
327:
321:
319:
317:
313:
309:
305:
304:costimulatory
297:
295:
293:
289:
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280:
276:
272:
267:
265:
256:
249:
244:
241:
239:
236:
234:
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226:
224:
220:
218:(Hepatitis C)
217:
214:
211:
209:
204:
201:
200:
199:
193:
191:
189:
185:
181:
177:
173:
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119:
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107:
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98:
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88:
78:
74:
70:
68:
64:
60:
56:
52:
50:
46:
43:
39:
35:
30:
25:
19:
1302:C1-inhibitor
1300:
1217:
1210:
1173:
1172:
1157:
1147:
1141:
1114:ICF syndrome
1081:
918:
894:
882:
852:. Retrieved
848:
838:
826:. Retrieved
822:
812:
776:
773:Immunol. Rev
772:
762:
719:
715:
705:
693:. Retrieved
689:
680:
645:
641:
616:. Retrieved
612:
603:
590:. Retrieved
578:
547:. Retrieved
543:
534:
522:. Retrieved
518:
494:. Retrieved
490:
466:. Retrieved
462:
438:. Retrieved
434:
410:. Retrieved
406:
360:
325:
301:
268:
261:
208:Pneumocystis
207:
197:
160:
148:
147:
134:class switch
99:
86:
84:
18:
1174:peripheral:
854:27 November
845:"CD40 gene"
828:27 November
695:27 November
598:update 2013
592:12 November
579:GeneReviews
524:16 November
496:16 November
468:16 November
440:16 November
412:27 November
337:radiography
233:Neutropenia
159:signaling;
1366:Categories
1307:Angioedema
1293:deficiency
1291:Complement
1268:Leukopenia
1218:autosomal:
972:complement
380:References
363:allogeneic
347:Lymph node
302:CD40 is a
277:. Healthy
186:(IgA) and
170:(CSR) and
166:affecting
1211:x-linked:
779:: 48–66.
736:0007-1048
664:0031-3998
549:2 January
357:Treatment
322:Diagnosis
238:Arthritis
216:Hepatitis
210:pneumonia
203:Infection
76:Treatment
1258:HIV/AIDS
1250:Acquired
1201:combined
993:Antibody
968:Lymphoid
920:Orphanet
795:15661021
754:20180797
672:15319456
613:omim.org
587:20301576
544:omim.org
519:omim.org
491:omim.org
463:omim.org
435:omim.org
271:antibody
264:X-linked
223:diarrhea
221:Chronic
49:Symptoms
997:humoral
984:Primary
891:: D80.5
803:6678540
745:2855828
618:27 June
279:B cells
182:(IgG),
164:B cells
130:B cells
1214:X-SCID
1198:Severe
925:101092
901:608106
801:
793:
752:
742:
734:
670:
662:
585:
335:Chest
290:, and
1204:(B+T)
1102:Other
799:S2CID
308:CD40L
250:Cause
136:from
108:. In
95:AICDA
58:Types
970:and
896:OMIM
856:2016
830:2016
791:PMID
750:PMID
732:ISSN
697:2016
668:PMID
660:ISSN
620:2017
594:2016
583:PMID
551:2018
526:2016
498:2016
470:2016
442:2016
414:2016
349:test
157:CD40
124:and
85:The
884:ICD
781:doi
777:203
740:PMC
724:doi
720:149
650:doi
331:MRI
292:IgE
288:IgG
284:IgA
161:via
126:IgA
122:IgE
118:IgG
106:DNA
1368::
923::
899::
888:10
847:.
821:.
797:.
789:.
775:.
771:.
748:.
738:.
730:.
718:.
714:.
688:.
666:.
658:.
646:56
644:.
640:.
628:^
611:.
581:.
577:.
559:^
542:.
517:.
506:^
489:.
478:^
461:.
450:^
433:.
422:^
405:.
388:^
372:,
294:.
286:,
174:.
120:,
116:,
1319:/
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1309:/
1305:(
1270::
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1187:1
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1160:(
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1150:(
1145::
1135:)
1133:T
1131:(
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1082:5
1077:4
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1002:B
1000:(
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960:e
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858:.
832:.
805:.
783::
756:.
726::
699:.
674:.
652::
622:.
596:.
553:.
528:.
500:.
472:.
444:.
416:.
205:/
188:E
184:A
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