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.
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
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Clinical spectrum of immunodeficiency, centromeric instability and facial dysmorphism (ICF syndrome).
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
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A novel deletion in ZBTB24 in a Lebanese family with immunodeficiency, centromeric instability, and facial anomalies syndrome type 2.
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
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Mutations in CDCA7 and HELLS cause immunodeficiency-centromeric instability-facial anomalies syndrome.
