KEGG   DISEASE: Immunodeficiency-centromeric instability-facial anomalies syndrome
Entry
H02308                      Disease                                

Name
Immunodeficiency-centromeric instability-facial anomalies syndrome
Description
Immunodeficiency, centromeric instability and facial dysmorphism (ICF syndrome) is a genetically heterogeneous autosomal recessive disorder. It is characterized by recurrent and often fatal respiratory and gastrointestinal infections as a consequence of hypogammaglobulinemia in the presence of B cells. Nearly all patients also present with distinct facial anomalies. Centromeric instability is the cytogenetic hallmark of ICF syndrome. Mutations in the DNA methyltransferase 3B (DNMT3B) gene account for about 50% of ICF cases, while about 30% of cases have mutations in the ZBTB24 gene. Recently, it has been reported that mutations in CDCA7 and HELLS cause ICF syndrome.
Category
Immune system disease
Brite
Human diseases [BR:br08402]
 Immune system diseases
  Primary immunodeficiency
   H02308  Immunodeficiency-centromeric instability-facial anomalies syndrome
Human diseases in ICD-11 classification [BR:br08403]
 04 Diseases of the immune system
  Primary immunodeficiencies
   4A01  Primary immunodeficiencies due to disorders of adaptive immunity
    H02308  Immunodeficiency-centromeric instability-facial anomalies syndrome
Gene
(ICF1) DNMT3B [HSA:1789] [KO:K17399]
(ICF2) ZBTB24 [HSA:9841] [KO:K10503]
(ICF3) CDCA7 [HSA:83879] [KO:K23408]
(ICF4) HELLS [HSA:3070] [KO:K19001]
Other DBs
ICD-11: 4A01.00
ICD-10: D84.8
MeSH: C537362
OMIM: 242860 614069 616910 616911
Reference
  Authors
Hagleitner MM, Lankester A, Maraschio P, Hulten 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
  Title
Clinical spectrum of immunodeficiency, centromeric instability and facial dysmorphism (ICF syndrome).
  Journal
J Med Genet 45:93-9 (2008)
DOI:10.1136/jmg.2007.053397
Reference
  Authors
Chouery E, Abou-Ghoch J, Corbani S, El Ali N, Korban R, Salem N, Castro C, Klayme S, Azoury-Abou Rjeily M, Khoury-Matar R, Debo G, Germanos-Haddad M, Delague V, Lefranc G, Megarbane A
  Title
A novel deletion in ZBTB24 in a Lebanese family with immunodeficiency, centromeric instability, and facial anomalies syndrome type 2.
  Journal
Clin Genet 82:489-93 (2012)
DOI:10.1111/j.1399-0004.2011.01783.x
Reference
  Authors
Thijssen PE, Ito Y, Grillo G, Wang J, Velasco G, Nitta H, Unoki M, Yoshihara M, Suyama M, Sun Y, Lemmers RJ, de Greef JC, Gennery A, Picco P, Kloeckener-Gruissem B, Gungor T, Reisli I, Picard C, Kebaili K, Roquelaure B, Iwai T, Kondo I, Kubota T, van Ostaijen-Ten Dam MM, van Tol MJ, Weemaes C, Francastel C, van der Maarel SM, Sasaki H
  Title
Mutations in CDCA7 and HELLS cause immunodeficiency-centromeric instability-facial anomalies syndrome.
  Journal
Nat Commun 6:7870 (2015)
DOI:10.1038/ncomms8870

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