Clinical and Immunological Characterization of ICF Syndrome in Japan

Springer Science and Business Media LLC - 2018
Chikako Kamae1, Kohsuke Imai2, Tamaki Kato1, Toshio Okano3, Kenichi Honma4, Noriko Nakagawa5, Tzu Wen Yeh3, Emiko Noguchi6, Akira Ohara7, Tomonari Shigemura8, Hiroshi Takahashi9, Shunichi Takakura10, Masatoshi Hayashi11, Aoi Honma12, Seiichi Watanabe12, Tomoko Shigemori13, Osamu Ohara14, Hidetada Sasaki15, Takeo Kubota16, Tomohiro Morio3, Hirokazu Kanegane17, Shigeaki Nonoyama4
1Department of Pediatrics, National Defense Medical College, 3-2, Namiki, Tokorozawa, Saitama, 359-0042, Japan
2Department of Community Pediatrics, Perinatal and Maternal Medicine, Graduate School of Medical and Dental Science, Tokyo Medical and Dental University (TMDU), Tokyo, Japan
3Department of Pediatrics and Developmental Biology, Graduate School of Medical and Dental Science, Tokyo Medical and Dental University (TMDU), Tokyo, Japan
4Department of Pediatrics, National Defense Medical College, Saitama, Japan
5Department of Pediatrics, Self Defense Forces Central Hospital, Tokyo, Japan
6Department of Medical Genetics, Faculty of Medicine, University of Tsukuba, Tsukuba, Japan
7Department of Pediatrics, Toho University School of Medicine, Tokyo, Japan
8Department of Pediatrics, Shinshu University School of Medicine, Matsumoto, Japan
9Department of Neurology, National Hospital Organization, Tottori Medical Center, Tottori, Japan
10Department of Infectious Diseases, Okinawa Chubu Hospital, Uruma, Japan
11Department of Pediatrics, Uwajima City Hospital, Uwajima, Japan
12Department of Pediatrics, Tsuchiura Kyodo General Hospital, Tsuchiura, Japan
13Department of Pediatrics, Nippon Medical School Tama Nagayama Hospital, Tama, Japan
14Department of Applied Genomics, Kazusa DNA Research Institute, Kisarazu, Japan
15Division of Epigenomics and Development, Medical Institute of Bioregulation, Kyushu University, Fukuoka, Japan
16Faculty of Child Studies, Seitoku University, Matsudo, Japan
17Department of Child Health and Development, Graduate School of Medical and Dental Science, Tokyo Medical and Dental University (TMDU), Tokyo, Japan

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Tài liệu tham khảo

Ehrlich M, Jackson K, Weemaes C. Immunodeficiency, centromeric region instability, facial anomalies syndrome (ICF). Orphanet J Rare Dis. 2006;1:2.

Hagleitner MM, Lankester A, Maraschio P, Hultén M, Fryns JP, Schuetz C, et al. Clinical spectrum of immunodeficiency, centromeric instability and facial dysmorphism (ICF syndrome). J Med Genet. 2008;45:93–9.

Weemaes CM, van Tol MJ, Wang J, et al. Heterogeneous clinical presentation in ICF syndrome: correlation with underlying gene defects. Eur J Hum Genet. 2013;21:1219–25.

Xu GL, Bestor TH, Bourc’his D, Hsieh CL, Tommerup N, Bugge M, et al. Chromosome instability and immunodeficiency syndrome caused by mutations in a DNA methyltransferase gene. Nature. 1999;402:187–91.

Hansen RS, Wijmenga C, Luo P, Stanek AM, Canfield TK, Weemaes CMR, et al. The DNMT3B DNA methyltransferase gene is mutated in the ICF immunodeficiency syndrome. Proc Natl Acad Sci U S A. 1999;96:14412–7.

de Greef JC, Wang J, Balog J, den Dunnen J, Frants RR, Straasheijm KR, et al. Mutations in ZBTB24 are associated with immunodeficiency, centromeric instability, and facial anomalies syndrome type 2. Am J Hum Genet. 2011;88:796–804.

Thijssen PE, Ito Y, Grillo G, Wang J, Velasco G, Nitta H, et al. Mutations in CDCA7 and HELLS cause immunodeficiency-centromeric instability-facial anomalies syndrome. Nat Commun. 2015;6:7870.

Sterlin D, Velasco G, Moshous D, Touzot F, Mahlaoui N, Fischer A, et al. Genetic, cellular and clinical features of ICF syndrome: a French national survey. J Clin Immunol. 2016;36:149–59.

Blanco-Betancourt CE, Moncla A, Milili M, Jiang YL, Viegas-Péquignot EM, Roquelaure B, et al. Defective B-cell-negative selection and terminal differentiation in the ICF syndrome. Blood. 2004;103:2683–90.

Nitta H, Unoki M, Ichiyanagi K, Kosho T, Shigemura T, Takahashi H, et al. Three novel ZBTB24 mutations identified in Japanese and Cape Verdean type 2 ICF syndrome patients. J Hum Genet. 2013;58:455–60.

Pezzolo A, Prigione I, Facchetti P, Castellano E, Viale M, Gimelli G, et al. T-cell apoptosis in ICF syndrome. J Allergy Clin Immunol. 2001;108:310–2.

Rechavi E, Lev A, Eyal E, Barel O, Kol N, Barhom SF, et al. A novel mutation in a critical region for the methyl donor binding in DNMT3B causes immunodeficiency, centromeric instability, and facial anomalies syndrome (ICF). J Clin Immunol. 2016;36:801–9.

von Bernuth H, Ravindran E, Du H, et al. Combined immunodeficiency develops with age in immunodeficiency-centromeric instability-facial anomalies syndrome 2 (ICF2). Orphanet J Rare Dis. 2014;9:116.

Gennery AR, Slatter MA, Bredius RG, Hagleitner MM, Weemaes C, Cant AJ, et al. Hematopoietic stem cell transplantation corrects the immunologic abnormalities associated with immunodeficiency-centromeric instability-facial dysmorphism syndrome. Pediatrics. 2007;120:e1341–4.

Gössling KL, Schipp C, Fischer U, Babor F, Koch G, Schuster FR, et al. Hematopoietic stem cell transplantation in an infant with immunodeficiency, centromeric instability, and facial anomaly syndrome. Front Immunol. 2017;8:773.

Stiehm ER, Fudenberg HH. Serum levels of immune globulins in health and disease: a survey. Pediatrics. 1966;37:715–27.

Shirohzu H, Kubota T, Kumazawa A, Sado T, Chijiwa T, Inagaki K, et al. Three novel DNMT3B mutations in Japanese patients with ICF syndrome. Am J Med Genet. 2002;112:31–7.

Takashima T, Okamura M, Yeh TW, Okano T, Yamashita M, Tanaka K, et al. Multicolor flow cytometry for the diagnosis of primary immunodeficiency diseases. J Clin Immunol. 2017;37:486–95.

Shearer WT, Rosenblatt HM, Gelman RS, Oyomopito R, Plaeger S, Stiehm ER, et al. Lymphocyte subsets in healthy children from birth through 18 years of age: the Pediatric AIDS Clinical Trials Group P1009 study. J Allergy Clin Immunol. 2003;112:973–80.

Morinishi Y, Imai K, Nakagawa N, Sato H, Horiuchi K, Ohtsuka Y, et al. Identification of severe combined immunodeficiency by T-cell receptor excision circles quantification using neonatal Guthrie cards. J Pediatr. 2009;155:829–33.

Nakagawa N, Imai K, Kanegane H, Sato H, Yamada M, Kondoh K, et al. Quantification of κ-deleting recombination excision circles in Guthrie cards for the identification of early B-cell maturation defects. J Allergy Clin Immunol. 2011;128:223–5.e2.

Kamae C, Nakagawa N, Sato H Honma K, Mitsuiki N, Ohara O, Kanegane H, Pasic S, Pan-Hammarström Q, van Zelm MC, Morio T, Imai K, Nonoyama S. Common variable immunodeficiency classification by quantifying T-cell receptor and immunoglobulin κ-deleting recombination excision circles. J Allergy Clin Immunol 2013; 131: 1437–40.e5.

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