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Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency(ICF1)

MedGen UID:
140770
Concept ID:
C0398788
Disease or Syndrome
Synonyms: Centromeric instability, immunodeficiency syndrome; ICF syndrome; ICF1; Immune deficiency, variable, with centromeric instability of chromosomes 1, 9, and 16; Immunodeficiency syndrome, variable; Immunodeficiency-centromeric instability-facial anomalies; Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome
SNOMED CT: Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency (234633000); Immunodeficiency-centromeric instability-facial anomalies syndrome (234633000); Centromeric instability, immunodeficiency syndrome (234633000)
Modes of inheritance:
Autosomal recessive inheritance
MedGen UID:
141025
Concept ID:
C0441748
Intellectual Product
Source: Orphanet
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele).
 
Related genes: CDCA7, ZBTB24, HELLS, DNMT3B
 
Monarch Initiative: MONDO:0000133
OMIM®: 242860
OMIM® Phenotypic series: PS242860
Orphanet: ORPHA2268

Definition

The Immunodeficiency, Centromeric region instability, Facial anomalies syndrome (ICF) is a rare autosomal recessive disease characterized by immunodeficiency, although B cells are present, and by characteristic rearrangements in the vicinity of the centromeres (the juxtacentromeric heterochromatin) of chromosomes 1 and 16 and sometimes 9. [from ORDO]

Recent clinical studies

Etiology

Nitta H, Unoki M, Ichiyanagi K, Kosho T, Shigemura T, Takahashi H, Velasco G, Francastel C, Picard C, Kubota T, Sasaki H
J Hum Genet 2013 Jul;58(7):455-60. Epub 2013 Jun 6 doi: 10.1038/jhg.2013.56. PMID: 23739126

Diagnosis

Kutluğ S, Ogur G, Yilmaz A, Thijssen PE, Abur U, Yildiran A
Am J Med Genet A 2016 Dec;170(12):3253-3257. Epub 2016 Sep 8 doi: 10.1002/ajmg.a.37866. PMID: 27604394
Nitta H, Unoki M, Ichiyanagi K, Kosho T, Shigemura T, Takahashi H, Velasco G, Francastel C, Picard C, Kubota T, Sasaki H
J Hum Genet 2013 Jul;58(7):455-60. Epub 2013 Jun 6 doi: 10.1038/jhg.2013.56. PMID: 23739126
Hagleitner MM, Lankester A, Maraschio P, Hultén M, Fryns JP, Schuetz C, Gimelli G, Davies EG, Gennery A, Belohradsky BH, de Groot R, Gerritsen EJ, Mattina T, Howard PJ, Fasth A, Reisli I, Furthner D, Slatter MA, Cant AJ, Cazzola G, van Dijken PJ, van Deuren M, de Greef JC, van der Maarel SM, Weemaes CM
J Med Genet 2008 Feb;45(2):93-9. Epub 2007 Sep 24 doi: 10.1136/jmg.2007.053397. PMID: 17893117
Colucci M, Cocito L, Capello E, Mancardi GL, Serrati C, Cinque P, Schenone A
J Neurol Sci 2004 Jan 15;217(1):107-10. doi: 10.1016/j.jns.2003.08.009. PMID: 14675617
Wijmenga C, Hansen RS, Gimelli G, Björck EJ, Davies EG, Valentine D, Belohradsky BH, van Dongen JJ, Smeets DF, van den Heuvel LP, Luyten JA, Strengman E, Weemaes C, Pearson PL
Hum Mutat 2000 Dec;16(6):509-17. doi: 10.1002/1098-1004(200012)16:6<509::AID-HUMU8>3.0.CO;2-V. PMID: 11102980

Prognosis

Hagleitner MM, Lankester A, Maraschio P, Hultén M, Fryns JP, Schuetz C, Gimelli G, Davies EG, Gennery A, Belohradsky BH, de Groot R, Gerritsen EJ, Mattina T, Howard PJ, Fasth A, Reisli I, Furthner D, Slatter MA, Cant AJ, Cazzola G, van Dijken PJ, van Deuren M, de Greef JC, van der Maarel SM, Weemaes CM
J Med Genet 2008 Feb;45(2):93-9. Epub 2007 Sep 24 doi: 10.1136/jmg.2007.053397. PMID: 17893117

Clinical prediction guides

de Greef JC, Wohlgemuth M, Chan OA, Hansson KB, Smeets D, Frants RR, Weemaes CM, Padberg GW, van der Maarel SM
Neurology 2007 Sep 4;69(10):1018-26. doi: 10.1212/01.wnl.0000271391.44352.fe. PMID: 17785671
Wijmenga C, Hansen RS, Gimelli G, Björck EJ, Davies EG, Valentine D, Belohradsky BH, van Dongen JJ, Smeets DF, van den Heuvel LP, Luyten JA, Strengman E, Weemaes C, Pearson PL
Hum Mutat 2000 Dec;16(6):509-17. doi: 10.1002/1098-1004(200012)16:6<509::AID-HUMU8>3.0.CO;2-V. PMID: 11102980
Stacey M, Bennett MS, Hulten M
J Med Genet 1995 Jul;32(7):502-8. doi: 10.1136/jmg.32.7.502. PMID: 7562960Free PMC Article

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