Combined immunodeficiency develops with age in Immunodeficiency-centromeric instability-facial anomalies syndrome 2 (ICF2)

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• 作者：Horst von Bernuth (1) (2)
  Ethiraj Ravindran (3) (4)
  Hang Du (5)
  Sebastian Fr枚hler (5)
  Karoline Strehl (1)
  Nadine Kr盲mer (3) (4)
  Lina Issa-Jahns (3) (4)
  Borko Amulic (6)
  Olaf Ninnemann (3)
  Mei-Sheng Xiao (5)
  Katharina Eirich (7)
  Uwe K枚lsch (2)
  Kathrin Hauptmann (8)
  Rainer John (4)
  Detlev Schindler (7)
  Volker Wahn (1)
  Wei Chen (5)
  Angela M Kaindl (3) (4)
  
  1. Pediatric Pneumology and Immunology ; Charit茅 - Universit盲tsmedizin Berlin ; Augustenburger Platz 1 ; 13353 ; Berlin ; Germany
  2. Labor Berlin Charit茅 Vivantes GmbH ; Department of Immunology ; Berlin ; Germany
  3. Institute of Cell Biology and Neurobiology ; Charit茅 鈥?Universit盲tsmedizin Berlin ; Augustenburger Platz 1 ; 13353 ; Berlin ; Germany
  4. Pediatric Neurology ; Charit茅 - Universit盲tsmedizin Berlin ; Augustenburger Platz 1 ; 13353 ; Berlin ; Germany
  5. Berlin Institute for Medical Systems Biology ; Max-Delbrueck-Center for Molecular Medicine ; Robert-R枚ssle-Str. 10 ; 13092 ; Berlin ; Germany
  6. Max Planck Institute for Infection Biology ; Berlin ; Germany
  7. Institute for Human Genetics ; Biozentrum ; Universit盲t W眉rzburg ; W眉rzburg ; Germany
  8. Institute for Pathology ; Charit茅 鈥?Universit盲tsmedizin Berlin ; Berlin ; Germany
  
• 关键词：ZBTB24 ; ICF2 ; Immunodeficiency ; Microcephaly ; Intellectual disability ; Centromeric instability ; Facial anomalies ; Granulomas
• 刊名：Orphanet Journal of Rare Diseases
• 出版年：2014
• 出版时间：December 2014
• 年：2014
• 卷：9
• 期：1
• 全文大小：2,106 KB
• 参考文献：1. Maraschio, P, Zuffardi, O, Dalla Fior, T, Tiepolo, L (1988) Immunodeficiency, centromeric heterochromatin instability of chromosomes 1, 9, and 16, and facial anomalies: the ICF syndrome. J Med Genet 25: pp. 173-180 CrossRef
  2. Xu, GL, Bestor, TH, Bourc鈥檋is, D, Hsieh, CL, Tommerup, N, Bugge, M, Hulten, M, Qu, X, Russo, JJ, Viegas-Pequignot, E (1999) Chromosome instability and immunodeficiency syndrome caused by mutations in a DNA methyltransferase gene. Nature 402: pp. 187-191 CrossRef
  3. Hansen, RS, Wijmenga, C, Luo, P, Stanek, AM, Canfield, TK, Weemaes, CM, Gartler, SM (1999) The DNMT3B DNA methyltransferase gene is mutated in the ICF immunodeficiency syndrome. Proc Natl Acad Sci U S A 96: pp. 14412-14417 CrossRef
  4. Greef, JC, Wang, J, Balog, J, Dunnen, JT, Frants, RR, Straasheijm, KR, Aytekin, C, Burg, M, Duprez, L, Ferster, A, Gennery, AR, Gimelli, G, Reisli, I, Schuetz, C, Schulz, A, Smeets, DF, Sznajer, Y, Wijmenga, C, Eggermond, MC, Ostaijen Dam, MM, Lankester, AC, Tol, MJ, Elsen, PJ, Weemaes, CM, Maarel, SM (2011) Mutations in ZBTB24 are associated with immunodeficiency, centromeric instability, and facial anomalies syndrome type 2. Am J Hum Genet 88: pp. 796-804 CrossRef
  5. Hagleitner, MM, Lankester, A, Maraschio, P, Hulten, M, Fryns, JP, Schuetz, C, Gimelli, G, Davies, EG, Gennery, A, Belohradsky, BH, Groot, R, Gerritsen, EJ, Mattina, T, Howard, PJ, Fasth, A, Reisli, I, Furthner, D, Slatter, MA, Cant, AJ, Cazzola, G, Dijken, PJ, Deuren, M, Greef, JC, Maarel, SM, Weemaes, CM (2008) Clinical spectrum of immunodeficiency, centromeric instability and facial dysmorphism (ICF syndrome). J Med Genet 45: pp. 93-99 CrossRef
  6. Cerbone, M, Wang, J, Maarel, SM, D鈥橝mico, A, D鈥橝gostino, A, Romano, A, Brunetti-Pierri, N (2012) Immunodeficiency, centromeric instability, facial anomalies (ICF) syndrome, due to ZBTB24 mutations, presenting with large cerebral cyst. Am J Med Genet A 158A: pp. 2043-2046 CrossRef
  7. Chouery, E, Abou-Ghoch, J, Corbani, S, 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, M茅garban茅, A (2012) A novel deletion in ZBTB24 in a Lebanese family with immunodeficiency, centromeric instability, and facial anomalies syndrome type 2. Clin Genet 82: pp. 489-493 CrossRef
  8. Nitta, H, Unoki, M, Ichiyanagi, K, Kosho, T, Shigemura, T, Takahashi, H, Velasco, G, Francastel, C, Picard, C, Kubota, T, Sasaki, H (2013) Three novel ZBTB24 mutations identified in Japanese and Cape Verdean type 2 ICF syndrome patients. J Hum Genet 58: pp. 455-460 CrossRef
  9. Weemaes, CM, Tol, MJ, Wang, J, Ostaijen-Ten Dam, MM, Eggermond, MC, Thijssen, PE, Aytekin, C, Brunetti-Pierri, N, 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, Elsen, PJ, Maarel, SM (2013) Heterogeneous clinical presentation in ICF syndrome: correlation with underlying gene defects. Eur J Hum Genet 21: pp. 1219-1225 CrossRef
  10. Brown, DC, Grace, E, Sumner, AT, Edmunds, AT, Ellis, PM (1995) ICF syndrome (immunodeficiency, centromeric instability and facial anomalies): investigation of heterochromatin abnormalities and review of clinical outcome. Hum Genet 96: pp. 411-416 CrossRef
  11. Kloeckener-Gruissem, B, Betts, DR, Zankl, A, Berger, W, Gungor, T (2005) A new and a reclassified ICF patient without mutations in DNMT3B and its interacting proteins SUMO-1 and UBC9. Am J Med Genet A 136: pp. 31-37 CrossRef
  12. Schuetz, C, Barbi, G, Barth, TF, Hoenig, M, Schulz, A, Moeller, P, Smeets, D, Greef, JC, Maarel, SM, Vogel, W, Debatin, KM, Friedrich, W (2007) ICF syndrome: high variability of the chromosomal phenotype and association with classical Hodgkin lymphoma. Am J Med Genet A 143A: pp. 2052-2057 CrossRef
  13. Pezzolo, A, Prigione, I, Chiesa, S, Castellano, E, Gimelli, G, Pistoia, V (2002) A novel case of immunodeficiency, centromeric instability, and facial anomalies (the ICF syndrome): immunologic and cytogenetic studies. Haematologica 87: pp. 329-331
  14. Kraemer, N, Issa, L, Hauck, SC, Mani, S, Ninnemann, O, Kaindl, AM (2011) What鈥檚 the hype about CDK5RAP2?. Cell Mol Life Sci 68: pp. 1719-1736 CrossRef
  15. Schuetz, C, Niehues, T, Friedrich, W, Schwarz, K (2010) Autoimmunity, autoinflammation and lymphoma in combined immunodeficiency (CID). Autoimmun Rev 9: pp. 477-482 CrossRef
  
• 刊物主题：Medicine/Public Health, general; Pharmacology/Toxicology; Medicinal Chemistry;
• 出版者：BioMed Central
• ISSN：1750-1172

文摘

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.