37:
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Lübke T, Marquardt T, Etzioni A, Hartmann E, von Figura K, Körner C (May 2001). "Complementation cloning identifies CDG-IIc, a new type of congenital disorders of glycosylation, as a GDP-fucose transporter deficiency".
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97:, and both were secretor- and Lewis-negative. They both had had recurrent severe bacterial infections similar to those seen in patients with
1179:
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146:
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335:
89:
This disorder was discovered in two unrelated
Israeli boys 3 and 5 years of age, each the offspring of consanguineous parents. Both had
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1128:
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151:
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858:
229:"Impairment of the Golgi GDP-L-fucose transport and unresponsiveness to fucose replacement therapy in LAD II patients"
188:"Leukocyte trafficking in a mouse model for leukocyte adhesion deficiency II/congenital disorder of glycosylation IIc"
716:
558:
171:
Etzioni A, Harlan JM (2007). "Cell adhesion and leukocyte adhesion defects". In Ochs HD, Smith CI, Puck JM (eds.).
121:
and the synthesis of Sialyl-LewisX requires an α1,3-fucosyltransferase, it was postulated that a general defect in
1146:
1026:
951:
890:
113:. In vitro studies revealed a pronounced defect in neutrophil motility. Because the genes for the red blood cell
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metabolism is the basis for this disorder. It was subsequently found that GDP-L-fucose transport into
909:
616:
118:
1018:
1032:
698:
286:
250:
209:
129:
vesicles was specifically impaired, and then missense mutations in the GDP-fucose transporter
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1165:
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762:
278:
240:
199:
94:
1133:
965:
816:
788:
604:
126:
36:
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105:. Similar to that in patients with LAD1, their infections were accompanied by pronounced
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245:
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110:
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109:(30,000 to 150,000/mm) but an absence of pus formation at sites of recurrent
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Primary immunodeficiency diseases: a molecular and genetic approach
838:
824:
810:
282:
101:, including pneumonia, periodontitis, otitis media, and localized
1246:
1241:
340:
186:
Yakubenia S, Frommhold D, Schölch D, et al. (August 2008).
130:
735:
380:
227:
Sturla L, Puglielli L, Tonetti M, et al. (April 2001).
93:, short stature, a distinctive facial appearance, and the
44:
This condition ia inherited via autosomal recessive manner
1346:
Congenital defects of phagocyte number, function, or both
1295:
117:
and for the secretor status encode for distinct α1,2-
305:
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1004:
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133:of three patients with LAD2 were discovered. Thus,
26:
21:
1315:
747:
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51:Congenital disorder of glycosylation type IIc
22:Congenital disorder of glycosylation type IIc
8:
175:. Oxford University Press. pp. 550–564.
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650:
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377:
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35:
18:
1247:Mitochondrial pyruvate carrier deficiency
244:
203:
30:Rambam-Hasharon syndrome, CDG-IIc, CDG2C
1142:Recessive multiple epiphyseal dysplasia
905:Congenital endothelial dystrophy type 2
163:
689:Neutrophil-specific granule deficiency
7:
1276:
1274:
712:Neutrophil immunodeficiency syndrome
147:Congenital disorder of glycosylation
14:
1278:
952:Thyroid dyshormonogenesis type 1
605:Granulocytopenia/agranulocytosis
246:10.1203/00006450-200104000-00016
1129:Multiple epiphyseal dysplasia 4
924:Glucose-galactose malabsorption
137:deficiency is a cause of LAD2.
61:attributable to the absence of
55:Leukocyte adhesion deficiency-2
1:
1341:Autosomal recessive disorders
1061:Allan–Herndon–Dudley syndrome
980:Lysinuric protein intolerance
707:Chronic granulomatous disease
667:Leukocyte adhesion deficiency
613:Severe congenital neutropenia
464:Chronic granulomatous disease
152:Leukocyte adhesion deficiency
59:leukocyte adhesion deficiency
1294:. You can help Knowledge by
1209:Acrodermatitis enteropathica
859:Arterial tortuosity syndrome
205:10.1182/blood-2008-01-132035
891:Hereditary elliptocytosis 4
95:Bombay (hh) blood phenotype
1372:
1273:
887:Hereditary spherocytosis 4
717:Myeloperoxidase deficiency
559:Hypereosinophilic syndrome
1256:
1147:Atelosteogenesis, type II
91:severe mental retardation
43:
34:
684:Chédiak–Higashi syndrome
646:Disorder of phagocytosis
80:. It is associated with
831:Fanconi-Bickel syndrome
1356:Genetic disorder stubs
845:Fructose malabsorption
135:GDP-fucose transporter
1261:solute carrier family
1223:African iron overload
1152:Diastrophic dysplasia
1194:Von Gierke's disease
1075:Von Gierke's disease
57:(LAD2) is a type of
119:fucosyltransferases
910:Fuchs' dystrophy 4
617:Cyclic neutropenia
351:External resources
1303:
1302:
1268:
1267:
1033:Gitelman syndrome
789:Episodic ataxia 6
729:
728:
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699:Respiratory burst
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16:Medical condition
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1288:genetic disorder
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1166:Pendred syndrome
938:Renal glycosuria
763:Genetic disorder
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1134:Achondrogenesis
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1019:Crohn's disease
1000:
966:Hartnup disease
817:De Vivo disease
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767:Solute carrier
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545:granulocytosis
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310:Classification
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302:External links
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198:(4): 1472–81.
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68:, a ligand of
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1351:Rare diseases
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1090:Salla disease
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659:degranulation
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547:
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537:
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529:
526:
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519:
517:
513:
499:
498:Monocytopenia
496:
495:
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488:
482:
479:
475:
465:
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460:
459:Histiocytosis
457:
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283:10.1038/88299
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239:(4): 537–42.
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66:sialyl-LewisX
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56:
52:
42:
38:
33:
29:
25:
20:
1296:expanding it
1285:
1270:
1258:
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865:
851:
837:
823:
809:
795:
781:
765:, membrane:
676:
592:
555:Eosinophilia
550:Neutrophilia
532:
516:Granulocytes
485:
441:
413:granulocytes
407:Diseases of
358:
334:
322:
274:
270:
263:
236:
233:Pediatr. Res
232:
222:
195:
191:
181:
172:
166:
107:leukocytosis
88:
81:
76:on vascular
54:
50:
49:
622:Eosinopenia
609:Neutropenia
454:Monocytosis
425:macrophages
277:(1): 73–6.
78:endothelium
27:Other names
1335:Categories
994:Cystinuria
873:Cystinuria
655:Chemotaxis
564:Basophilia
271:Nat. Genet
158:References
111:cellulitis
103:cellulitis
74:E-selectin
63:neutrophil
1259:see also
769:disorders
627:Basopenia
421:Monocytes
409:monocytes
115:H antigen
1196:, GSD-Ib
1077:, GSD-Ic
569:Bandemia
534:-cytosis
443:-cytosis
360:Orphanet
291:11326280
255:11264438
214:18541720
141:See also
1242:SLC54A1
1217:SLC40A1
1203:SLC39A4
1188:SLC37A4
1180:CDOG 2C
1174:SLC35C1
1160:SLC26A4
1137:type 1B
1123:SLC26A2
1098:SLC17A8
1084:SLC17A5
1069:SLC17A3
1055:SLC16A2
1041:SLC16A1
1027:SLC12A3
1013:SLC11A1
960:SLC6A19
899:SLC4A11
853:SLC2A10
803:SPATCCM
331:: D84.8
83:SLC35C1
1104:DFNA25
988:SLC7A9
974:SLC7A7
946:SLC5A5
932:SLC5A2
918:SLC5A1
881:SLC4A1
867:SLC3A1
839:SLC2A5
825:SLC2A2
811:SLC2A1
797:SLC1A4
783:SLC1A3
594:-penia
487:-penia
341:266265
289:
253:
212:
123:fucose
72:- and
1286:This
1234:51-60
1115:21-40
1005:11-20
365:99843
192:Blood
127:Golgi
1292:stub
1047:HHF7
775:1-10
677:LAD2
672:LAD1
657:and
423:and
411:and
336:OMIM
287:PMID
251:PMID
210:PMID
131:cDNA
99:LAD1
324:ICD
279:doi
241:doi
200:doi
196:112
53:or
1337::
363::
339::
328:10
285:.
275:28
273:.
249:.
237:49
235:.
231:.
208:.
194:.
190:.
86:.
1323:e
1316:t
1309:v
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1245:(
889:/
755:e
748:t
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629:)
615:/
611:/
607:(
596::
584:↓
557:/
536::
524:↑
489::
477:↓
445::
433:↑
400:e
393:t
386:v
326:-
316:D
293:.
281::
257:.
243::
216:.
202::
70:P
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