188:. Given that it is recessive, this means that the condition can only be inherited if the alleles for both X-chromosomes have the deficiency if the patient is female (xx) or if patient only has one X chromosome, as with male patients (xY). This means that a female could be heterozygous for the allele (Xx) and not express the weakened immune system, as individuals with partial properdin deficiency have been shown to function effectively the same as healthy individuals. This also means that any male patient that receives the recessive allele from their mother will inherit the deficiency, regardless of the genotype of their father, as the father must have passed the
29:
157:
45.6 units/ml. An individual with properdin deficiency should, by definition, show very little to no properdin antigen levels at all, as they do not possess the requisite gene to produce the protein. While properdin deficiencies are rare, they have only been diagnosed in
Caucasians, but no other race/ethnicity.
146:, do not detect low levels of the absence of properdin. These pathways are typically unaltered by any of the three types of properdin deficiencies, but even when they are affected, it is typically within normal levels and is not cause for concern. Instead, histories of infection with anything from the
165:
Pertaining to complement deficiencies, there is no cure and the treatments for complement deficiencies vary widely. The best course of action for management is usually for a patient to treat the complement deficiency as an immune deficiency and get immunized against the microbe associated with their
156:
proves to be one of the most effective methods of detecting properdin deficiency, as the average healthy male is expected to show properdin antigen levels of around 128.0 ELISA units/ml, and obligate carrier females (recall that properdin deficiency is an X-linked disease) tend to show an average of
175:
covered by the given vaccine. The vaccine has been reported to lower the chances of reinfection by meningococci in individuals who have undergone the treatment, however the vaccine does not protect against group B meningococci and chemotherapy is recommended if full protection from all meningococci
57:
responsible for the stabilization of the alternative C3 convertase, is deficient. There are three forms of properdin deficiencies: Type I, which is identified by the total absence of the properdin protein in the plasma, Type II, which is a low but detectable amount of the properdin protein in the
92:
As a protein involved in the function of the immune system, no external changes in physiology or aberrant physical characteristics are expressed by individuals possessing a properdin deficiency. However, individuals that have a properdin deficiency do have a heightened susceptibility to bacterial
252:
Type I and type II properdin deficiency result in an absence or extremely low presence of properdin, whereas type III results in the presence of a dysfunctional properdin protein structure. Ultimately, all three types have the same basic effect, reducing defensive capabilities against bacteria,
170:
bacterium. Recent studies have indicated that individuals with properdin deficiency respond well when they are immunized with tetravalent polysaccharide meningococcal vaccine, which generates anti capsular antibodies and bactericidal anti-meningococcal activity against
628:
137:
As mentioned before, there are no external indications of properdin deficiency, and as such, properdin deficiency can only be reliably detected by lab tests. The typical tests for complement deficiencies, such as the measurement of
437:
714:
225:
Type II properdin deficiency is thought to be caused by one or both of two mutations on the CFP gene. One of the mutations is a C-to-T transition at position 2124, located on exon 4, which converted an
199:(CFP), lies on the X-chromosome at the coordinates: GRCh38: X:47,623,281-47,630,304. There are three types of properdin deficiency, which are caused by different mutations in the exons of the CFP gene.
265:. While the frequency of properdin deficiency has not been assessed worldwide, the risk of meningococcal infection in an individual with properdin deficiency has been calculated to be around 50%.
261:
Complement deficiencies are rare and currently not well characterized, so there has been difficulty detecting them. Currently, complement deficiencies only comprise approximately 2% of all
707:
58:
plasma, and Type III, which is a rare case of normal levels of properdin protein, but a dysfunctional variant. One of the first studied cases of properdin deficiency was in 1980 by
235:
152:
genus as well as family history can be indicators, but only specialist centers can screen for properdin deficiencies using immunochemical assays. In particular, the use of
1372:
700:
206:
at position 2767, which results in an early termination of the sequence and the production of an immature properdin protein. Type I can also be the result of a G-T
113:, resulting in inflammation of the brain and spinal cord, which causes severe headaches, fevers, and neck stiffness, and may result in further development of other
1428:
1292:
129:
bacterium, resulting in swelling, itching, pain, and formation of pus on the mucous membranes, including, but not limited to, the genitals, mouth, and rectum.
1328:
1139:
218:, which renders the protein non-functional. Finally, Type I can alternatively be caused by a C-to-G transversion on exon 6 at position 3041, converting a
932:
780:
1188:
969:
70:
in which all of the subjects were deceased shortly after the study because of their disease. The largest study of properdin deficiency was in 1989 by
1635:
1483:
234:, resulting in an improper protein fold. The second mutation is a G-to-A transition at position 827 in intron 3, which is hypothesized to cause a
1517:
1096:
1554:
1630:
1297:
1273:
798:
585:
509:
1473:
1208:
1101:
640:
1263:
262:
1549:
1507:
1333:
1478:
1036:
1413:
1132:
953:
864:
1640:
1259:
1745:
1582:
1162:
1106:
976:
848:
166:
deficiency (or best candidate). As mentioned earlier, individuals with properdin deficiency are increasingly susceptible to
1664:
1178:
284:"Molecular characterisation of 10 Dutch properdin type I deficient families: mutation analysis and X-inactivation studies"
1183:
843:
184:
Properdin deficiency is caused by an X-linked recessive allele, meaning that the gene responsible is only present on the
1720:
1645:
1539:
1193:
1125:
956:
808:
775:
99:
genus, though there have also been studied cases of individuals with recurrent pneumococcus bacteremia as a result of
1715:
1302:
202:
Type I properdin deficiency can be the result of a nonsense mutation on exon 5 of the CDP gene, caused by a C-to-T
1418:
922:
1675:
1535:
1198:
942:
837:
832:
827:
822:
817:
752:
1710:
1377:
991:
739:
651:
109:
bacterium, individuals with properdin deficiency are far more likely to succumb to bacterial infection such as
101:
692:
1680:
1604:
1394:
1323:
1091:
1076:
1072:
62:. These families had members with only partial deficiencies which resulted in a lowered consumption of the
1750:
1695:
1544:
1502:
1452:
1404:
1346:
143:
139:
63:
680:
1527:
1359:
1066:
1046:
767:
203:
121:. Individuals with properdin deficiency are also more likely to catch the sexually transmitted disease,
114:
105:, another species of bacteria from an entirely different phylum. Due to a heightened susceptibility to
1315:
1241:
790:
241:
Type III properdin deficiency is caused by a T-to-G mutation on exon 9, resulting in a conversion of
1512:
1223:
1685:
1385:
1283:
938:
813:
1577:
1268:
1251:
907:
898:
883:
727:
591:
581:
375:
357:
305:
54:
1690:
1564:
1005:
986:
917:
731:
723:
365:
349:
295:
1625:
1572:
1448:
1443:
1364:
1170:
1028:
282:
van den
Bogaard R, Fijen CA, Schipper MG, de Galan L, Kuijper EJ, Mannens MM (July 2000).
1705:
1620:
1493:
1458:
1390:
1081:
981:
803:
370:
337:
78:
study, the 9 who were affected were found to be more susceptible to diseases from the
1739:
1700:
1463:
1423:
1351:
1338:
1236:
1231:
1203:
353:
246:
74:
which included nine males across three generations. Out of the 46 family members in
1310:
1057:
869:
207:
189:
185:
28:
656:
1148:
338:"Properdin deficiency and meningococcal disease--identifying those most at risk"
1062:
1023:
595:
575:
231:
110:
361:
438:"Invasive pneumococcal (Streptococcus pneumoniae) infections and bacteremia"
300:
283:
148:
122:
95:
80:
50:
379:
309:
67:
59:
1013:
748:
675:
550:
242:
227:
196:
172:
66:
protein. Properdin deficiency was studied again shortly after in 1982 by
46:
620:
211:
75:
71:
1117:
888:
757:
632:
219:
215:
118:
412:
210:
at position 3511 in exon 7, causing an amino acid substitution from
1596:
153:
192:
to them, which plays no part in genes with x-linked inheritance.
1592:
1433:
645:
1662:
1160:
1121:
696:
413:"OMIM Entry - # 312060 - PROPERDIN DEFICIENCY, X-LINKED; CFPD"
36:
This condition is inherited in an x-linked recessive manner
551:"OMIM Entry - * 300383 - COMPLEMENT FACTOR PROPERDIN; CFP"
510:"Complement Deficiencies | Immune Deficiency Foundation"
485:
461:
93:
infections, most notably caused by bacteria within the
195:
The gene responsible for the production of properdin,
610:
1613:
1591:
1563:
1526:
1492:
1403:
1282:
1250:
1222:
1169:
1045:
1022:
1004:
952:
882:
857:
789:
766:
747:
738:
666:
614:
21:
1339:Danon disease/glycogen storage disease Type IIb
336:Linton, S. M.; Morgan, B. P. (November 1999).
238:, resulting in improper splicing of the mRNA.
1444:Color blindness (red and green, but not blue)
1429:Alpha-thalassemia mental retardation syndrome
1133:
708:
8:
1329:Glucose-6-phosphate dehydrogenase deficiency
1659:
1157:
1140:
1126:
1118:
933:Purine nucleoside phosphorylase deficiency
781:Transient hypogammaglobulinemia of infancy
763:
744:
715:
701:
693:
611:
577:Pediatric allergy: principles and practice
18:
1189:X-linked severe combined immunodeficiency
369:
299:
580:(Fourth ed.). Amsterdam: Elsevier.
1583:X-linked nephrogenic diabetes insipidus
1508:Hypohidrotic ectodermal dysplasia (EDA)
274:
253:especially those previously mentioned.
249:, resulting in an ineffective protein.
1518:X-linked endothelial corneal dystrophy
1097:Terminal complement pathway deficiency
1474:Charcot–Marie–Tooth disease (CMTX2-3)
1298:Ornithine transcarbamylase deficiency
1274:X-linked adrenal hypoplasia congenita
7:
1209:X-linked lymphoproliferative disease
1179:Chronic granulomatous disease (CYBB)
545:
543:
541:
539:
537:
535:
533:
531:
529:
407:
405:
403:
401:
399:
397:
395:
393:
391:
389:
342:Clinical and Experimental Immunology
331:
329:
327:
325:
323:
321:
319:
1555:Emery–Dreifuss muscular dystrophy 1
1102:Paroxysmal nocturnal hemoglobinuria
1264:Spinal and bulbar muscular atrophy
263:primary immunodeficiency disorders
117:and extreme complications such as
14:
1334:Pyruvate dehydrogenase deficiency
574:Leung, Donald Y. M., ed. (2021).
1414:X-linked intellectual disability
865:Common variable immunodeficiency
354:10.1046/j.1365-2249.1999.01057.x
27:
1260:Androgen insensitivity syndrome
1037:Idiopathic CD4+ lymphocytopenia
1636:Simpson–Golabi–Behmel syndrome
1107:Complement receptor deficiency
977:Adenosine deaminase deficiency
1:
1605:AMELX Amelogenesis imperfecta
1545:Centronuclear myopathy (MTM1)
1242:X-linked sideroblastic anemia
1631:Smith–Fineman–Myers syndrome
1479:Pelizaeus–Merzbacher disease
1373:Purine–pyrimidine metabolism
1721:Craniofrontonasal dysplasia
1646:Nasodigitoacoustic syndrome
1194:X-linked agammaglobulinemia
776:X-linked agammaglobulinemia
197:Complement Factor Properdin
1767:
1716:Orofaciodigital syndrome 1
1550:Conradi–Hünermann syndrome
1303:Oculocerebrorenal syndrome
125:, as it is also caused by
1676:X-linked hypophosphatemia
1671:
1658:
1536:Becker muscular dystrophy
1199:Hyper-IgM syndrome type 1
1156:
35:
26:
1641:Mohr–Tranebjærg syndrome
1184:Wiskott–Aldrich syndrome
992:Bare lymphocyte syndrome
844:Wiskott–Aldrich syndrome
102:Streptococcus pneumoniae
1681:Focal dermal hypoplasia
1395:Occipital horn syndrome
1324:Carbohydrate metabolism
1092:Complement 3 deficiency
1077:Complement 4 deficiency
1073:Complement 2 deficiency
301:10.1038/sj.ejhg.5200496
222:codon to a stop codon.
1696:Incontinentia pigmenti
1503:Dyskeratosis congenita
1347:Lipid storage disorder
1269:KAL1 Kallmann syndrome
115:meningococcal diseases
1746:Complement deficiency
1419:Coffin–Lowry syndrome
1360:Mucopolysaccharidosis
1067:Hereditary angioedema
923:Ataxia–telangiectasia
768:Hypogammaglobulinemia
176:variants is desired.
1711:Lujan–Fryns syndrome
1378:Lesch–Nyhan syndrome
1316:Adrenoleukodystrophy
1214:Properdin deficiency
1087:Properdin deficiency
908:Di George's syndrome
791:Dysgammaglobulinemia
43:Properdin deficiency
22:Properdin deficiency
1513:X-linked ichthyosis
236:cryptic splice site
60:Davis and Forrestal
1686:Fragile X syndrome
1496:and related tissue
1163:X-linked recessive
939:Hyper IgM syndrome
849:Hyper-IgE syndrome
814:Hyper IgM syndrome
730:disorders causing
667:External resources
436:Sexton, Daniel J.
288:Eur. J. Hum. Genet
88:Signs and symptoms
1733:
1732:
1729:
1728:
1665:X-linked dominant
1654:
1653:
1614:No primary system
1115:
1114:
1000:
999:
899:thymic hypoplasia
884:T cell deficiency
878:
877:
690:
689:
587:978-0-323-67462-1
514:primaryimmune.org
55:complement factor
49:disease in which
40:
39:
16:Medical condition
1758:
1691:Aicardi syndrome
1660:
1158:
1142:
1135:
1128:
1119:
987:ZAP70 deficiency
918:Nezelof syndrome
764:
745:
732:immunodeficiency
717:
710:
703:
694:
612:
600:
599:
571:
565:
564:
562:
561:
547:
524:
523:
521:
520:
506:
500:
499:
498:
497:
482:
476:
475:
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458:
452:
451:
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448:
442:www.uptodate.com
433:
427:
426:
424:
423:
409:
384:
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373:
333:
314:
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279:
31:
19:
1766:
1765:
1761:
1760:
1759:
1757:
1756:
1755:
1736:
1735:
1734:
1725:
1667:
1650:
1626:McLeod syndrome
1609:
1587:
1573:Alport syndrome
1559:
1522:
1488:
1449:Ocular albinism
1399:
1365:Hunter syndrome
1278:
1246:
1218:
1165:
1152:
1146:
1116:
1111:
1048:
1041:
1029:Lymphocytopenia
1027:
1018:
996:
972:
959:
948:
904:hypoparathyroid
886:
874:
853:
785:
755:
734:
721:
691:
686:
685:
662:
661:
623:
609:
604:
603:
588:
573:
572:
568:
559:
557:
549:
548:
527:
518:
516:
508:
507:
503:
495:
493:
490:Knowledge (XXG)
484:
483:
479:
471:
469:
466:Knowledge (XXG)
460:
459:
455:
446:
444:
435:
434:
430:
421:
419:
411:
410:
387:
335:
334:
317:
281:
280:
276:
271:
259:
182:
163:
135:
90:
53:, an important
17:
12:
11:
5:
1764:
1762:
1754:
1753:
1748:
1738:
1737:
1731:
1730:
1727:
1726:
1724:
1723:
1718:
1713:
1708:
1706:CHILD syndrome
1703:
1698:
1693:
1688:
1683:
1678:
1672:
1669:
1668:
1663:
1656:
1655:
1652:
1651:
1649:
1648:
1643:
1638:
1633:
1628:
1623:
1621:Barth syndrome
1617:
1615:
1611:
1610:
1608:
1607:
1601:
1599:
1589:
1588:
1586:
1585:
1580:
1578:Dent's disease
1575:
1569:
1567:
1561:
1560:
1558:
1557:
1552:
1547:
1542:
1532:
1530:
1524:
1523:
1521:
1520:
1515:
1510:
1505:
1499:
1497:
1490:
1489:
1487:
1486:
1481:
1476:
1467:
1466:
1461:
1459:Norrie disease
1456:
1446:
1441:Eye disorders:
1437:
1436:
1431:
1426:
1421:
1409:
1407:
1405:Nervous system
1401:
1400:
1398:
1397:
1391:Menkes disease
1381:
1380:
1368:
1367:
1355:
1354:
1342:
1341:
1336:
1331:
1319:
1318:
1306:
1305:
1300:
1288:
1286:
1280:
1279:
1277:
1276:
1271:
1266:
1256:
1254:
1248:
1247:
1245:
1244:
1239:
1234:
1228:
1226:
1220:
1219:
1217:
1216:
1211:
1206:
1201:
1196:
1191:
1186:
1181:
1175:
1173:
1167:
1166:
1161:
1154:
1153:
1147:
1145:
1144:
1137:
1130:
1122:
1113:
1112:
1110:
1109:
1104:
1099:
1094:
1089:
1084:
1082:MBL deficiency
1079:
1070:
1053:
1051:
1043:
1042:
1040:
1039:
1033:
1031:
1020:
1019:
1017:
1016:
1010:
1008:
1002:
1001:
998:
997:
995:
994:
989:
984:
982:Omenn syndrome
979:
963:
961:
950:
949:
947:
946:
927:
926:
920:
911:
894:
892:
880:
879:
876:
875:
873:
872:
867:
861:
859:
855:
854:
852:
851:
846:
841:
835:
830:
825:
820:
811:
809:IgM deficiency
806:
804:IgG deficiency
801:
799:IgA deficiency
795:
793:
787:
786:
784:
783:
778:
772:
770:
761:
742:
736:
735:
722:
720:
719:
712:
705:
697:
688:
687:
684:
683:
671:
670:
668:
664:
663:
660:
659:
648:
637:
624:
619:
618:
616:
615:Classification
608:
607:External links
605:
602:
601:
586:
566:
525:
501:
477:
453:
428:
385:
348:(2): 189–191.
315:
273:
272:
270:
267:
258:
255:
181:
178:
162:
159:
134:
131:
89:
86:
38:
37:
33:
32:
24:
23:
15:
13:
10:
9:
6:
4:
3:
2:
1763:
1752:
1751:Rare diseases
1749:
1747:
1744:
1743:
1741:
1722:
1719:
1717:
1714:
1712:
1709:
1707:
1704:
1702:
1701:Rett syndrome
1699:
1697:
1694:
1692:
1689:
1687:
1684:
1682:
1679:
1677:
1674:
1673:
1670:
1666:
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1657:
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1639:
1637:
1634:
1632:
1629:
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1619:
1618:
1616:
1612:
1606:
1603:
1602:
1600:
1598:
1594:
1590:
1584:
1581:
1579:
1576:
1574:
1571:
1570:
1568:
1566:
1562:
1556:
1553:
1551:
1548:
1546:
1543:
1541:
1537:
1534:
1533:
1531:
1529:
1528:Neuromuscular
1525:
1519:
1516:
1514:
1511:
1509:
1506:
1504:
1501:
1500:
1498:
1495:
1491:
1485:
1482:
1480:
1477:
1475:
1472:
1469:
1468:
1465:
1464:Choroideremia
1462:
1460:
1457:
1454:
1450:
1447:
1445:
1442:
1439:
1438:
1435:
1432:
1430:
1427:
1425:
1424:MASA syndrome
1422:
1420:
1417:
1415:
1411:
1410:
1408:
1406:
1402:
1396:
1392:
1389:
1387:
1383:
1382:
1379:
1376:
1374:
1370:
1369:
1366:
1363:
1361:
1357:
1356:
1353:
1352:Fabry disease
1349:
1348:
1344:
1343:
1340:
1337:
1335:
1332:
1330:
1327:
1325:
1321:
1320:
1317:
1314:
1312:
1308:
1307:
1304:
1301:
1299:
1296:
1294:
1290:
1289:
1287:
1285:
1281:
1275:
1272:
1270:
1267:
1265:
1261:
1258:
1257:
1255:
1253:
1249:
1243:
1240:
1238:
1237:Haemophilia B
1235:
1233:
1232:Haemophilia A
1230:
1229:
1227:
1225:
1221:
1215:
1212:
1210:
1207:
1205:
1202:
1200:
1197:
1195:
1192:
1190:
1187:
1185:
1182:
1180:
1177:
1176:
1174:
1172:
1168:
1164:
1159:
1155:
1150:
1143:
1138:
1136:
1131:
1129:
1124:
1123:
1120:
1108:
1105:
1103:
1100:
1098:
1095:
1093:
1090:
1088:
1085:
1083:
1080:
1078:
1074:
1071:
1068:
1064:
1060:
1059:
1055:
1054:
1052:
1050:
1044:
1038:
1035:
1034:
1032:
1030:
1025:
1021:
1015:
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985:
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975:
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968:
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951:
944:
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937:
936:
935:
934:
931:
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921:
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914:euparathyroid
912:
909:
905:
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895:
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890:
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868:
866:
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746:
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733:
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682:
678:
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297:
293:
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268:
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256:
254:
250:
248:
247:aspartic acid
244:
239:
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217:
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209:
205:
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48:
44:
34:
30:
25:
20:
1470:
1440:
1412:
1384:
1371:
1358:
1345:
1322:
1311:Dyslipidemia
1309:
1291:
1213:
1086:
1058:C1-inhibitor
1056:
973:
966:
929:
928:
913:
903:
897:
870:ICF syndrome
674:
650:
639:
627:
576:
569:
558:. Retrieved
555:www.omim.org
554:
517:. Retrieved
513:
504:
494:, retrieved
492:, 2022-03-22
489:
480:
470:, retrieved
468:, 2022-03-20
465:
462:"Meningitis"
456:
445:. Retrieved
441:
431:
420:. Retrieved
417:www.omim.org
416:
345:
341:
294:(7): 513–8.
291:
287:
277:
260:
257:Epidemiology
251:
240:
224:
208:transversion
201:
194:
190:Y chromosome
186:X chromosome
183:
167:
164:
147:
136:
126:
106:
100:
94:
91:
79:
42:
41:
1224:Hematologic
930:peripheral:
486:"Gonorrhea"
1740:Categories
1293:Amino acid
1063:Angioedema
1049:deficiency
1047:Complement
1024:Leukopenia
974:autosomal:
728:complement
596:1202992443
560:2022-03-24
519:2022-03-24
496:2022-03-24
472:2022-03-24
447:2022-03-24
422:2022-03-23
269:References
232:tryptophan
204:transition
161:Management
111:meningitis
45:is a rare
1284:Metabolic
1252:Endocrine
1151:disorders
967:x-linked:
362:0009-9104
173:serotypes
168:Neisseria
149:Neisseria
133:Diagnosis
127:Neisseria
123:gonorrhea
107:Neisseria
96:Neisseria
81:Neisseria
51:properdin
1565:Urologic
1540:Duchenne
1149:X-linked
1014:HIV/AIDS
1006:Acquired
957:combined
749:Antibody
724:Lymphoid
676:Orphanet
380:10540177
310:10909851
228:arginine
180:Genetics
47:X-linked
1386:Mineral
753:humoral
740:Primary
657:C537241
636:: D84.1
371:1905414
84:genus.
76:Fijen's
68:Sjoholm
1471:Other:
1171:Immune
970:X-SCID
954:Severe
646:312060
594:
584:
378:
368:
360:
308:
243:tyr387
220:serine
216:valine
212:gly271
119:sepsis
1597:tooth
1484:SMAX2
960:(B+T)
858:Other
230:to a
154:ELISA
72:Fijen
1593:Bone
1494:Skin
1434:PHF8
1204:IPEX
726:and
681:2966
652:MeSH
641:OMIM
592:OCLC
582:ISBN
376:PMID
358:ISSN
306:PMID
142:and
629:ICD
366:PMC
350:doi
346:118
296:doi
245:to
214:to
1742::
1350::
679::
655::
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633:10
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528:^
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488:,
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374:.
364:.
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318:^
304:.
290:.
286:.
144:C4
140:C3
64:C3
1595:/
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716:e
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631:-
621:D
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563:.
522:.
450:.
425:.
382:.
352::
312:.
298::
292:8
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