139:
22:
302:
For ICF patients the most diffused therapy consists of repeated intravenous infusions of immunoglobulins for the patients entire lifespan. In 2007, Gennery et al. cured the humoral and cellular immunological defect in three ICF1 patients by hematopoietic stem cell transplantation (HSCT). The only
555:
Gennery, A. R.; Slatter, M. A.; Bredius, R. G.; Hagleitner, M. M.; Weemaes, C.; Cant, A. J.; Lankester, A. C. (2007). "Hematopoietic Stem Cell
Transplantation Corrects the Immunologic Abnormalities Associated with Immunodeficiency Centromeric Instability Facial Dysmorphism Syndrome".
39:
496:
Jiang, Yl; Rigolet, M; Bourc'His, D; Nigon, F; Bokesoy, I; Fryns, Jp; Hultén, M; Jonveaux, P; Maraschio, P; Mégarbané, A; Moncla, A; Viegas-Péquignot, E (January 2005). "DNMT3B mutations and DNA methylation defect define two types of ICF syndrome".
630:
485:
Ren R, Hardikar S, Horton JR, Lu Y, Zeng Y, Singh AK, Lin K, Coletta LD, Shen J, Lin Kong CS, Hashimoto H, Zhang X, Chen T, Cheng X (2019) Structural basis of specific DNA binding by the transcription factor ZBTB24. Nucleic Acids Res
355:
Brown, Dc; Grace, E; Sumner, At; Edmunds, At; Ellis, Pm (October 1995). "ICF syndrome (immunodeficiency, centromeric instability and facial anomalies): investigation of heterochromatin abnormalities and review of clinical outcome".
1162:
734:
219:. Other frequent symptoms observed in individuals with ICF syndrome include intellectual disability, recurrent and prolonged respiratory infections, and integumentary and digestive system infections.
303:
side effect was related to the development of autoimmune phenomena in two of them. This is the only documented case of restoring the immune conditions and growth improvement in these patients.
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or linkage analysis or DNA sequence analysis. This can occur prior to birth in families with a known history of the condition.
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404:"Immunodeficiency, centromeric region instability, facial anomalies syndrome (ICF)"
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185:
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https://www.ptglab.com/news/blog/icf-syndrome-a-gene-silencing-chromatin-disorder/
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21:
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462:"IMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME 1; ICF1"
291:
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191:(IgG, IgM and/or IgA) levels which cause most ICF patients to succumb to
167:
622:
510:
369:
908:
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634:
236:
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461:
55:"Immunodeficiency–centromeric instability–facial anomalies syndrome"
231:
can cause this syndrome: Cell division cycle associated protein 7 (
240:
232:
132:
Immunodeficiency-centromeric instability-facial anomalies syndrome
402:
Ehrlich, Melanie; Jackson, Kelly; Weemaes, Corry (1 March 2006).
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543:
340:
228:
716:
15:
1163:
Noninfectious immunodeficiency-related cutaneous conditions
243:) and Zinc finger- and BTB domain containing protein 24 (
707:
Orphanet
Journal of Rare Diseases link to ICF syndrome
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1024:
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877:
809:
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767:
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679:
616:
128:
123:
46:. Unsourced material may be challenged and removed.
601:IFC Syndrome: A gene silencing chromatin disorder
184:It is characterized by variable reductions in
728:
350:
348:
8:
953:Purine nucleoside phosphorylase deficiency
801:Transient hypogammaglobulinemia of infancy
783:
764:
735:
721:
713:
613:
397:
395:
278:This disease is inherited in an autosomal
137:
120:
437:
419:
106:Learn how and when to remove this message
329:
1117:Terminal complement pathway deficiency
7:
44:adding citations to reliable sources
1158:IUIS-PID table 3 immunodeficiencies
1122:Paroxysmal nocturnal hemoglobinuria
540:Online Mendelian Inheritance in Man
337:Online Mendelian Inheritance in Man
14:
408:Orphanet Journal of Rare Diseases
885:Common variable immunodeficiency
199:. ICF syndrome patients exhibit
20:
1057:Idiopathic CD4+ lymphocytopenia
257:The DNMT3B gene is located on
239:), Lymphoid specific helicase (
31:needs additional citations for
1127:Complement receptor deficiency
997:Adenosine deaminase deficiency
271:The ZBTB24 gene is located on
1:
1148:Autosomal recessive disorders
264:The HELLS gene is located on
250:The CDCA7 gene is located on
235:), DNA-methyltransferase 3b (
318:List of cutaneous conditions
290:Diagnosis can occur using a
796:X-linked agammaglobulinemia
1179:
158:entromere instability and
136:
1012:Bare lymphocyte syndrome
864:Wiskott–Aldrich syndrome
313:Bare lymphocyte syndrome
1112:Complement 3 deficiency
1097:Complement 4 deficiency
1093:Complement 2 deficiency
570:10.1542/peds.2007-0640
1087:Hereditary angioedema
943:Ataxia–telangiectasia
788:Hypogammaglobulinemia
421:10.1186/1750-1172-1-2
1107:Properdin deficiency
928:Di George's syndrome
811:Dysgammaglobulinemia
40:improve this article
193:infectious diseases
959:Hyper IgM syndrome
869:Hyper-IgE syndrome
834:Hyper IgM syndrome
750:disorders causing
680:External resources
564:(5): e1341–e1344.
511:10.1002/humu.20113
370:10.1007/BF00191798
227:Mutations in four
1135:
1134:
1020:
1019:
919:thymic hypoplasia
904:T cell deficiency
898:
897:
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702:
166:) is a very rare
154:mmunodeficiency,
145:
144:
118:Medical condition
116:
115:
108:
90:
1170:
1007:ZAP70 deficiency
938:Nezelof syndrome
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752:immunodeficiency
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213:epicanthal folds
201:facial anomalies
162:acial anomalies
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1049:Lymphocytopenia
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1038:
1016:
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924:hypoparathyroid
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174:immune disorder
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1153:Rare syndromes
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1102:MBL deficiency
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1002:Omenn syndrome
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829:IgM deficiency
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824:IgG deficiency
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819:IgA deficiency
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617:Classification
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609:External links
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499:Human Mutation
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358:Human Genetics
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203:which include
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934:euparathyroid
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266:chromosome 10
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259:chromosome 20
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57: –
56:
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51:Find sources:
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29:This article
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17:
1078:C1-inhibitor
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993:
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890:ICF syndrome
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505:(1): 56–63.
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469:. Retrieved
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364:(4): 411–6.
361:
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289:
277:
273:chromosome 6
270:
263:
261:(20q11.2)).
256:
252:chromosome 2
249:
226:
217:macroglossia
209:low-set ears
183:
180:Presentation
163:
159:
155:
151:
148:ICF syndrome
147:
146:
124:ICF syndrome
102:
93:
83:
76:
69:
62:
50:
38:Please help
33:verification
30:
950:peripheral:
471:13 February
268:(10q23.33)
129:Other names
96:August 2020
1142:Categories
1083:Angioedema
1069:deficiency
1067:Complement
1044:Leukopenia
994:autosomal:
748:complement
665:DiseasesDB
558:Pediatrics
324:References
254:(2q31.1).
66:newspapers
987:x-linked:
430:1750-1172
298:Treatment
292:karyotype
286:Diagnosis
280:recessive
197:adulthood
171:recessive
168:autosomal
1034:HIV/AIDS
1026:Acquired
977:combined
769:Antibody
744:Lymphoid
689:Orphanet
586:11910398
578:17908720
542:(OMIM):
527:41614913
519:15580563
448:16722602
414:(1): 2.
339:(OMIM):
307:See also
282:manner.
223:Genetics
164:syndrome
773:humoral
760:Primary
659:C537362
638:: D84.8
439:1459120
386:1459435
378:7557962
275:(6q21)
195:before
80:scholar
990:X-SCID
974:Severe
648:242860
584:
576:
544:602900
525:
517:
446:
436:
428:
384:
376:
341:242860
245:ZBTB24
237:DNMT3B
82:
75:
68:
61:
53:
980:(B+T)
878:Other
670:32366
582:S2CID
523:S2CID
382:S2CID
241:HELLS
233:CDCA7
229:genes
186:serum
87:JSTOR
73:books
746:and
694:2268
654:MeSH
643:OMIM
574:PMID
515:PMID
473:2023
466:OMIM
444:PMID
426:ISSN
374:PMID
215:and
150:(or
59:news
631:ICD
566:doi
562:120
507:doi
434:PMC
416:doi
366:doi
247:).
42:by
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103:(
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94:(
84:·
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70:·
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36:.
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