Combined immunodeficiency develops with age in Immunodeficiency-centromeric instability-facial anomalies syndrome 2 (ICF2)
Tóm tắt
The autosomal recessive immunodeficiency-centromeric instability-facial anomalies syndrome (ICF) is characterized by immunodeficiency, developmental delay, and facial anomalies. ICF2, caused by biallelic ZBTB24 gene mutations, is acknowledged primarily as an isolated B-cell defect. Here, we extend the phenotype spectrum by describing, in particular, for the first time the development of a combined immune defect throughout the disease course as well as putative autoimmune phenomena such as granulomatous hepatitis and nephritis. We also demonstrate impaired cell-proliferation and increased cell death of immune and non-immune cells as well as data suggesting a chromosome separation defect in addition to the known chromosome condensation defect.
Tài liệu tham khảo
Maraschio P, Zuffardi O, Dalla Fior T, Tiepolo L: Immunodeficiency, centromeric heterochromatin instability of chromosomes 1, 9, and 16, and facial anomalies: the ICF syndrome. J Med Genet. 1988, 25: 173-180. 10.1136/jmg.25.3.173.
Xu GL, Bestor TH, Bourc’his D, Hsieh CL, Tommerup N, Bugge M, Hulten M, Qu X, Russo JJ, Viegas-Pequignot E: Chromosome instability and immunodeficiency syndrome caused by mutations in a DNA methyltransferase gene. Nature. 1999, 402: 187-191. 10.1038/46214.
Hansen RS, Wijmenga C, Luo P, Stanek AM, Canfield TK, Weemaes CM, Gartler SM: The DNMT3B DNA methyltransferase gene is mutated in the ICF immunodeficiency syndrome. Proc Natl Acad Sci U S A. 1999, 96: 14412-14417. 10.1073/pnas.96.25.14412.
de Greef JC, Wang J, Balog J, den Dunnen JT, Frants RR, Straasheijm KR, Aytekin C, van der Burg M, Duprez L, Ferster A, Gennery AR, Gimelli G, Reisli I, Schuetz C, Schulz A, Smeets DF, Sznajer Y, Wijmenga C, van Eggermond MC, van Ostaijen Dam MM, Lankester AC, van Tol MJ, van den Elsen PJ, Weemaes CM, van der Maarel SM: Mutations in ZBTB24 are associated with immunodeficiency, centromeric instability, and facial anomalies syndrome type 2. Am J Hum Genet. 2011, 88: 796-804. 10.1016/j.ajhg.2011.04.018.
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: Clinical spectrum of immunodeficiency, centromeric instability and facial dysmorphism (ICF syndrome). J Med Genet. 2008, 45: 93-99. 10.1136/jmg.2007.053397.
Cerbone M, Wang J, Van der Maarel SM, D’Amico A, D’Agostino A, Romano A, Brunetti-Pierri N: Immunodeficiency, centromeric instability, facial anomalies (ICF) syndrome, due to ZBTB24 mutations, presenting with large cerebral cyst. Am J Med Genet A. 2012, 158A: 2043-2046. 10.1002/ajmg.a.35486.
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, Mégarbané A: A novel deletion in ZBTB24 in a Lebanese family with immunodeficiency, centromeric instability, and facial anomalies syndrome type 2. Clin Genet. 2012, 82: 489-493. 10.1111/j.1399-0004.2011.01783.x.
Nitta H, Unoki M, Ichiyanagi K, Kosho T, Shigemura T, Takahashi H, Velasco G, Francastel C, Picard C, Kubota T, Sasaki H: Three novel ZBTB24 mutations identified in Japanese and Cape Verdean type 2 ICF syndrome patients. J Hum Genet. 2013, 58: 455-460. 10.1038/jhg.2013.56.
Weemaes CM, van Tol MJ, Wang J, van Ostaijen-Ten Dam MM, van Eggermond MC, Thijssen PE, Aytekin C, Brunetti-Pierri N, van der Burg M, Graham Davies E, Ferster A, Furthner D, Gimelli G, Gennery A, Kloeckener-Gruissem B, Meyn S, Powell C, Reisli I, Schuetz C, Schulz A, Shugar A, van den Elsen PJ, van der Maarel SM: Heterogeneous clinical presentation in ICF syndrome: correlation with underlying gene defects. Eur J Hum Genet. 2013, 21: 1219-1225. 10.1038/ejhg.2013.40.
Brown DC, Grace E, Sumner AT, Edmunds AT, Ellis PM: ICF syndrome (immunodeficiency, centromeric instability and facial anomalies): investigation of heterochromatin abnormalities and review of clinical outcome. Hum Genet. 1995, 96: 411-416. 10.1007/BF00191798.
Kloeckener-Gruissem B, Betts DR, Zankl A, Berger W, Gungor T: A new and a reclassified ICF patient without mutations in DNMT3B and its interacting proteins SUMO-1 and UBC9. Am J Med Genet A. 2005, 136: 31-37. 10.1002/ajmg.a.30767.
Schuetz C, Barbi G, Barth TF, Hoenig M, Schulz A, Moeller P, Smeets D, de Greef JC, van der Maarel SM, Vogel W, Debatin KM, Friedrich W: ICF syndrome: high variability of the chromosomal phenotype and association with classical Hodgkin lymphoma. Am J Med Genet A. 2007, 143A: 2052-2057. 10.1002/ajmg.a.31885.
Pezzolo A, Prigione I, Chiesa S, Castellano E, Gimelli G, Pistoia V: A novel case of immunodeficiency, centromeric instability, and facial anomalies (the ICF syndrome): immunologic and cytogenetic studies. Haematologica. 2002, 87: 329-331.
Kraemer N, Issa L, Hauck SC, Mani S, Ninnemann O, Kaindl AM: What’s the hype about CDK5RAP2?. Cell Mol Life Sci. 2011, 68: 1719-1736. 10.1007/s00018-011-0635-4.
Schuetz C, Niehues T, Friedrich W, Schwarz K: Autoimmunity, autoinflammation and lymphoma in combined immunodeficiency (CID). Autoimmun Rev. 2010, 9: 477-482. 10.1016/j.autrev.2010.02.005.