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

PMID:17893117

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

PMID:15580563 (DNMT3B)

Authors

Jiang YL, Rigolet M, Bourc'his D, Nigon F, Bokesoy I, Fryns JP, Hulten M, Jonveaux P, Maraschio P, Megarbane A, Moncla A, Viegas-Pequignot E

Title

DNMT3B mutations and DNA methylation defect define two types of ICF syndrome.

Journal

Hum Mutat 25:56-63 (2005)
DOI:10.1002/humu.20113

Reference

PMID:21906047 (ZBTB24)

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

PMID:26216346 (CDCA7 HELLS)

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

» Japanese version

All links

Disease (4)   
   OMIM (4)   
Gene (8)   
   KEGG ORTHOLOGY (4)   
   KEGG GENES (4)   
Literature (4)   
   PubMed (4)   
All databases (16)   

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