39:
262:
Sasaki Y, Iseki M, Yamaguchi S, Kurosawa Y, Yamamoto T, Moriwaki Y, Kenri T, Sasaki T, Yamashita R (July 1998). "Direct evidence of autosomal recessive inheritance of Arg24 to termination codon in purine nucleoside phosphorylase gene in a family with a severe combined immunodeficiency patient".
188:
Diagnosis is based on the clinical examination and on laboratory findings showing leukopenia, severe lymphopenia with low CD3, CD4, and CD8 counts and variable B cell function and immunoglobulin levels. Neutropenia has also been reported. Hallmark diagnostic markers of PNP deficiency include
205:
Measurement of T cell receptor excision circles during newborn screening for SCID can detect some patients with PNP deficiency, although removal of metabolites by maternal PNP may delay the deleterious effects on PNP-deficient lymphocytes. Few newborn screening programs also measure purine
583:
568:
1119:
176:(chromosome 14 is an autosome), and two copies of the defective gene (one inherited from each parent) are required in order to be born with the disorder. The parents of an individual with an autosomal recessive disorder both
189:
hypouricemia, complete or near complete absence of PNP activity in red blood cell lysate and increased urine or blood levels of inosine, guanosine and their deoxy forms. Diagnosis is confirmed by genetic screening of PNP.
1298:
694:
1112:
152:
and guanosine to guanine (both guanine and hypoxanthine will be made into xanthine which will then become uric acid). A deficiency of it leads to buildup of elevated deoxy-GTP (dGTP) levels resulting in
1223:
1105:
197:
Differential diagnosis includes aplastic anemias, SCID, severe combined immunodeficiency due to adenosine deaminase deficiency, ataxia-telangiectasia, and viral meningoencephalitis.
1313:
687:
1318:
1160:
521:
1132:
680:
1187:
1273:
760:
949:
1303:
1076:
218:, and physical, occupational, and speech therapy, reduces the risk of infection and may encourage optimal neurologic development for patients.
89:
activity, and an abrupt proliferation of both benign and opportunistic infections—PNP-deficiency is often characterized by the development of
778:
172:
PNP deficiency is inherited in an autosomal recessive manner. This means the defective gene responsible for the disorder is located on an
1081:
598:
335:
102:
1155:
435:
535:
1016:
933:
844:
122:
1203:
1086:
956:
828:
158:
823:
230:
have been documented. In the United
Kingdom only two children have been diagnosed with this disorder in 1994 and 2008.
936:
788:
755:
70:
1128:
902:
922:
817:
812:
807:
802:
797:
732:
1178:
971:
719:
609:
137:
672:
1071:
1056:
1052:
356:"Point mutations at the purine nucleoside phosphorylase locus impair thymocyte differentiation in the mouse"
1308:
1237:
1046:
1026:
747:
660:
453:"TAT-mediated intracellular delivery of purine nucleoside phosphorylase corrects its deficiency in mice"
129:
85:
In addition to the symptoms associated with immunodeficiency, such as depletion of T-cells, decline of
1066:
770:
367:
180:
one copy of the defective gene, but usually do not experience any signs or symptoms of the disorder.
67:
587:
94:
90:
1170:
918:
793:
288:
110:
1097:
1140:
887:
878:
863:
707:
620:
482:
431:
395:
318:
280:
162:
105:
have been reported with PNP-deficiency. Neurological symptoms, such as developmental decline,
46:
Purine nucleoside phosphorylase deficiency has an autosomal recessive pattern of inheritance.
985:
966:
897:
711:
703:
472:
464:
385:
375:
272:
239:
98:
74:
1257:
1252:
1008:
177:
38:
501:"eMedicine - Purine Nucleoside Phosphorylase Deficiency : Article by Alan P Knutsen"
371:
1061:
961:
783:
526:
477:
452:
133:
592:
1292:
1182:
390:
355:
227:
214:
Supportive treatment, including intravenous immunoglobulin therapy, prophylaxis for
1037:
849:
649:
292:
149:
614:
1213:
625:
1042:
1003:
577:
126:
86:
500:
644:
226:
PNP deficiency is extremely rare. Only 33 patients with the disorder in the
106:
486:
380:
399:
322:
284:
276:
993:
728:
655:
531:
173:
64:
560:
868:
737:
572:
468:
166:
154:
148:
degradation. Specifically, it catalyzes the conversion of inosine to
145:
141:
412:
Motulsky A, Gartler S. "Biographical
Memoirs: Eloise R. Giblett".
426:
Berg, Jeremy M.; Tymoczko, John L.; Stryer, Lubert (2010-12-24).
309:
Markert ML (1991). "Purine nucleoside phosphorylase deficiency".
1218:
603:
339:
1101:
676:
1299:
Noninfectious immunodeficiency-related cutaneous conditions
1224:
Mitochondrial neurogastrointestinal encephalopathy syndrome
54:
Allegeneic hemotopoietic stem cell transplantation (HSCT)
354:
Snyder FF, Jenuth JP, Mably ER, Mangat RK (Mar 1997).
144:
in the purine catabolic pathway, and is required for
550:
1266:
1245:
1236:
1196:
1169:
1161:
1148:
1139:
1025:
1002:
984:
932:
862:
837:
769:
746:
727:
718:
635:
554:
50:
26:
21:
1314:Inborn errors of purine-pyrimidine metabolism
1113:
688:
349:
347:
8:
1188:Adenine phosphoribosyltransferase deficiency
121:The disorder is caused by a mutation of the
1274:Dihydropyrimidine dehydrogenase deficiency
1242:
1209:Purine nucleoside phosphorylase deficiency
1145:
1120:
1106:
1098:
913:Purine nucleoside phosphorylase deficiency
761:Transient hypogammaglobulinemia of infancy
743:
724:
695:
681:
673:
551:
61:Purine nucleoside phosphorylase deficiency
37:
22:Purine nucleoside phosphorylase deficiency
18:
476:
389:
379:
1319:Combined T and B–cell immunodeficiencies
304:
302:
157:toxicity and deficiency. In contrast to
132:. This mutation was first identified by
257:
255:
251:
1077:Terminal complement pathway deficiency
522:"Boy first in UK with rare condition"
7:
1082:Paroxysmal nocturnal hemoglobinuria
336:Online Mendelian Inheritance in Man
103:idiopathic thrombocytopenic purpura
165:), there is minimal disruption to
14:
1156:Adenylosuccinate lyase deficiency
845:Common variable immunodeficiency
451:Toro A, Grunebaum E (Oct 2006).
1017:Idiopathic CD4+ lymphocytopenia
123:purine nucleoside phosphorylase
1204:Adenosine deaminase deficiency
1087:Complement receptor deficiency
957:Adenosine deaminase deficiency
534:. 9 March 2009. Archived from
159:adenosine deaminase deficiency
1:
1304:Autosomal recessive disorders
430:(7th ed.). p. 753.
1133:purine–pyrimidine metabolism
414:National Academy of Sciences
360:Proc. Natl. Acad. Sci. U.S.A
756:X-linked agammaglobulinemia
1335:
113:have also been reported.
45:
36:
972:Bare lymphocyte syndrome
824:Wiskott–Aldrich syndrome
140:, in 1975. PNP is a key
138:University of Washington
1072:Complement 3 deficiency
1057:Complement 4 deficiency
1053:Complement 2 deficiency
161:(another deficiency of
125:(PNP) gene, located at
381:10.1073/pnas.94.6.2522
193:Differential diagnosis
1238:Pyrimidine metabolism
1047:Hereditary angioedema
903:Ataxia–telangiectasia
748:Hypogammaglobulinemia
277:10.1007/s004390050787
206:metabolites in dried
136:, a professor at the
1179:Lesch–Nyhan syndrome
1067:Properdin deficiency
888:Di George's syndrome
771:Dysgammaglobulinemia
216:Pneumocystis carinii
91:autoimmune disorders
372:1997PNAS...94.2522S
95:lupus erythematosus
1171:Nucleotide salvage
919:Hyper IgM syndrome
829:Hyper-IgE syndrome
794:Hyper IgM syndrome
710:disorders causing
636:External resources
111:mental retardation
81:Signs and symptoms
71:metabolic disorder
1286:
1285:
1282:
1281:
1232:
1231:
1141:Purine metabolism
1095:
1094:
980:
979:
879:thymic hypoplasia
864:T cell deficiency
858:
857:
670:
669:
463:(10): 2717–2726.
163:purine metabolism
73:which results in
58:
57:
16:Medical condition
1326:
1243:
1146:
1122:
1115:
1108:
1099:
967:ZAP70 deficiency
898:Nezelof syndrome
744:
725:
712:immunodeficiency
697:
690:
683:
674:
552:
540:
539:
518:
512:
511:
509:
507:
497:
491:
490:
480:
469:10.1172/JCI25052
448:
442:
441:
423:
417:
410:
404:
403:
393:
383:
366:(6): 2522–2527.
351:
342:
333:
327:
326:
306:
297:
296:
259:
240:Nezelof syndrome
99:hemolytic anemia
75:immunodeficiency
41:
19:
1334:
1333:
1329:
1328:
1327:
1325:
1324:
1323:
1289:
1288:
1287:
1278:
1262:
1258:Miller syndrome
1253:Orotic aciduria
1228:
1192:
1165:
1135:
1126:
1096:
1091:
1028:
1021:
1009:Lymphocytopenia
1007:
998:
976:
952:
939:
928:
884:hypoparathyroid
866:
854:
833:
765:
735:
714:
701:
671:
666:
665:
631:
630:
563:
549:
544:
543:
520:
519:
515:
505:
503:
499:
498:
494:
457:J. Clin. Invest
450:
449:
445:
438:
425:
424:
420:
411:
407:
353:
352:
345:
334:
330:
311:Immunodefic Rev
308:
307:
300:
261:
260:
253:
248:
236:
224:
212:
203:
195:
186:
119:
83:
17:
12:
11:
5:
1332:
1330:
1322:
1321:
1316:
1311:
1306:
1301:
1291:
1290:
1284:
1283:
1280:
1279:
1277:
1276:
1270:
1268:
1264:
1263:
1261:
1260:
1255:
1249:
1247:
1240:
1234:
1233:
1230:
1229:
1227:
1226:
1221:
1216:
1211:
1206:
1200:
1198:
1194:
1193:
1191:
1190:
1185:
1175:
1173:
1167:
1166:
1164:
1163:
1158:
1152:
1150:
1143:
1137:
1136:
1127:
1125:
1124:
1117:
1110:
1102:
1093:
1092:
1090:
1089:
1084:
1079:
1074:
1069:
1064:
1062:MBL deficiency
1059:
1050:
1033:
1031:
1023:
1022:
1020:
1019:
1013:
1011:
1000:
999:
997:
996:
990:
988:
982:
981:
978:
977:
975:
974:
969:
964:
962:Omenn syndrome
959:
943:
941:
930:
929:
927:
926:
907:
906:
900:
891:
874:
872:
860:
859:
856:
855:
853:
852:
847:
841:
839:
835:
834:
832:
831:
826:
821:
815:
810:
805:
800:
791:
789:IgM deficiency
786:
784:IgG deficiency
781:
779:IgA deficiency
775:
773:
767:
766:
764:
763:
758:
752:
750:
741:
722:
716:
715:
702:
700:
699:
692:
685:
677:
668:
667:
664:
663:
652:
640:
639:
637:
633:
632:
629:
628:
617:
606:
595:
580:
564:
559:
558:
556:
555:Classification
548:
547:External links
545:
542:
541:
538:on 2009-03-11.
527:Channel 4 News
513:
492:
443:
436:
418:
405:
343:
328:
298:
265:Human Genetics
250:
249:
247:
244:
243:
242:
235:
232:
223:
220:
211:
208:
202:
199:
194:
191:
185:
182:
134:Eloise Giblett
118:
115:
82:
79:
56:
55:
52:
48:
47:
43:
42:
34:
33:
31:PNP-deficiency
28:
24:
23:
15:
13:
10:
9:
6:
4:
3:
2:
1331:
1320:
1317:
1315:
1312:
1310:
1309:Rare diseases
1307:
1305:
1302:
1300:
1297:
1296:
1294:
1275:
1272:
1271:
1269:
1265:
1259:
1256:
1254:
1251:
1250:
1248:
1244:
1241:
1239:
1235:
1225:
1222:
1220:
1217:
1215:
1212:
1210:
1207:
1205:
1202:
1201:
1199:
1195:
1189:
1186:
1184:
1183:Hyperuricemia
1180:
1177:
1176:
1174:
1172:
1168:
1162:
1159:
1157:
1154:
1153:
1151:
1147:
1144:
1142:
1138:
1134:
1130:
1123:
1118:
1116:
1111:
1109:
1104:
1103:
1100:
1088:
1085:
1083:
1080:
1078:
1075:
1073:
1070:
1068:
1065:
1063:
1060:
1058:
1054:
1051:
1048:
1044:
1040:
1039:
1035:
1034:
1032:
1030:
1024:
1018:
1015:
1014:
1012:
1010:
1005:
1001:
995:
992:
991:
989:
987:
983:
973:
970:
968:
965:
963:
960:
958:
955:
951:
948:
945:
944:
942:
938:
935:
931:
924:
920:
917:
916:
915:
914:
911:
904:
901:
899:
895:
894:euparathyroid
892:
889:
885:
882:
880:
876:
875:
873:
870:
865:
861:
851:
848:
846:
843:
842:
840:
836:
830:
827:
825:
822:
819:
816:
814:
811:
809:
806:
804:
801:
799:
795:
792:
790:
787:
785:
782:
780:
777:
776:
774:
772:
768:
762:
759:
757:
754:
753:
751:
749:
745:
742:
739:
734:
730:
726:
723:
721:
717:
713:
709:
705:
698:
693:
691:
686:
684:
679:
678:
675:
662:
658:
657:
653:
651:
647:
646:
642:
641:
638:
634:
627:
623:
622:
618:
616:
612:
611:
607:
605:
601:
600:
596:
594:
590:
589:
585:
581:
579:
575:
574:
570:
566:
565:
562:
557:
553:
546:
537:
533:
529:
528:
523:
517:
514:
502:
496:
493:
488:
484:
479:
474:
470:
466:
462:
458:
454:
447:
444:
439:
437:9781429229364
433:
429:
422:
419:
415:
409:
406:
401:
397:
392:
387:
382:
377:
373:
369:
365:
361:
357:
350:
348:
344:
341:
337:
332:
329:
324:
320:
316:
312:
305:
303:
299:
294:
290:
286:
282:
278:
274:
270:
266:
258:
256:
252:
245:
241:
238:
237:
233:
231:
229:
228:United States
221:
219:
217:
209:
207:
200:
198:
192:
190:
183:
181:
179:
175:
170:
168:
164:
160:
156:
151:
147:
143:
139:
135:
131:
128:
124:
116:
114:
112:
108:
104:
100:
97:, autoimmune
96:
92:
88:
80:
78:
76:
72:
69:
66:
62:
53:
49:
44:
40:
35:
32:
29:
25:
20:
1208:
1129:Inborn error
1038:C1-inhibitor
1036:
953:
946:
912:
909:
908:
893:
883:
877:
850:ICF syndrome
654:
643:
619:
608:
597:
582:
567:
536:the original
525:
516:
504:. Retrieved
495:
460:
456:
446:
428:Biochemistry
427:
421:
413:
408:
363:
359:
331:
317:(1): 45–81.
314:
310:
271:(1): 81–85.
268:
264:
225:
222:Epidemiology
215:
213:
204:
196:
187:
171:
150:hypoxanthine
120:
84:
60:
59:
30:
1214:Xanthinuria
910:peripheral:
27:Other names
1293:Categories
1267:Catabolism
1197:Catabolism
1043:Angioedema
1029:deficiency
1027:Complement
1004:Leukopenia
954:autosomal:
708:complement
621:DiseasesDB
246:References
127:chromosome
87:lymphocyte
63:is a rare
1246:Anabolism
1149:Anabolism
947:x-linked:
645:eMedicine
210:Treatment
201:Screening
184:Diagnosis
107:hypotonia
68:recessive
65:autosomal
51:Treatment
994:HIV/AIDS
986:Acquired
937:combined
729:Antibody
704:Lymphoid
656:Orphanet
650:ped/1957
506:July 25,
487:16964310
338:(OMIM):
234:See also
174:autosome
733:humoral
720:Primary
615:C562587
532:PA News
478:1560347
400:9122228
368:Bibcode
323:1931007
293:8373698
285:9737781
167:B cells
130:14q13.1
950:X-SCID
934:Severe
604:613179
485:
475:
434:
398:
388:
340:164050
321:
291:
283:
155:T-cell
146:purine
142:enzyme
109:, and
101:, and
940:(B+T)
838:Other
626:11044
593:277.2
578:D81.5
391:20121
289:S2CID
178:carry
117:Cause
1219:Gout
1131:of
706:and
610:MeSH
599:OMIM
588:9-CM
508:2010
483:PMID
432:ISBN
396:PMID
319:PMID
281:PMID
661:760
584:ICD
569:ICD
473:PMC
465:doi
461:116
386:PMC
376:doi
273:doi
269:103
1295::
659::
648::
624::
613::
602::
591::
576::
573:10
530:.
524:.
481:.
471:.
459:.
455:.
394:.
384:.
374:.
364:94
362:.
358:.
346:^
313:.
301:^
287:.
279:.
267:.
254:^
169:.
93:.
77:.
1181:/
1121:e
1114:t
1107:v
1055:/
1049:)
1045:/
1041:(
1006::
925:)
923:1
921:(
905:)
896:(
890:)
886:(
881::
871:)
869:T
867:(
820:)
818:5
813:4
808:3
803:2
798:1
796:(
740:)
738:B
736:(
731:/
696:e
689:t
682:v
586:-
571:-
561:D
510:.
489:.
467::
440:.
416:.
402:.
378::
370::
325:.
315:3
295:.
275::
Text is available under the Creative Commons Attribution-ShareAlike License. Additional terms may apply.
