Hidetoshi Takada1, Akihiko Nomura, Chaim M Roifman, Toshiro Hara. 1. Department of Paediatrics, Graduate School of Medical Sciences, Kyushu University, 3-1-1 Maidashi, 812-8582 Higashi-ku, Fukuoka, Japan. takadah@pediatr.med.kyushu-u.ac.jp
Abstract
UNLABELLED: CD3delta deficiency is a recently identified rare form of severe combined immunodeficiency. We analysed the CD3delta gene in a Japanese family with severe combined immunodeficiency. The patients lacked T-cells with normal numbers of B-cells and natural killer cells in peripheral blood. We found a novel homozygous mutation in the splicing acceptor site of intron 2 (IVS2-2A --> G) in these patients. Analysis of patients' mononuclear cells revealed the CD3delta splicing abnormality. Chest X-ray films and computed tomography revealed small sized thymuses in these patients. CONCLUSION: The CD3delta gene should be analysed in patients with severe combined immunodeficiency lacking T-cells with normal B- and natural killer cells irrespective of the thymus size.
UNLABELLED: CD3delta deficiency is a recently identified rare form of severe combined immunodeficiency. We analysed the CD3delta gene in a Japanese family with severe combined immunodeficiency. The patients lacked T-cells with normal numbers of B-cells and natural killer cells in peripheral blood. We found a novel homozygous mutation in the splicing acceptor site of intron 2 (IVS2-2A --> G) in these patients. Analysis of patients' mononuclear cells revealed the CD3delta splicing abnormality. Chest X-ray films and computed tomography revealed small sized thymuses in these patients. CONCLUSION: The CD3delta gene should be analysed in patients with severe combined immunodeficiency lacking T-cells with normal B- and natural killer cells irrespective of the thymus size.
Authors: V P Dave; Z Cao; C Browne; B Alarcon; G Fernandez-Miguel; J Lafaille; A de la Hera; S Tonegawa; D J Kappes Journal: EMBO J Date: 1997-03-17 Impact factor: 11.598
Authors: A Arnaiz-Villena; M Timon; A Corell; P Perez-Aciego; J M Martin-Villa; J R Regueiro Journal: N Engl J Med Date: 1992-08-20 Impact factor: 91.245
Authors: Nufar Marcus; Hidetoshi Takada; Jason Law; Morton J Cowan; Juana Gil; Jose R Regueiro; Diego Plaza Lopez de Sabando; Eduardo Lopez-Granados; Jignesh Dalal; Wilhelm Friedrich; Hoenig Manfred; Imelda Celine Hanson; Eyal Grunebaum; William T Shearer; Chaim M Roifman Journal: J Allergy Clin Immunol Date: 2011-07-16 Impact factor: 10.793
Authors: Carlos Riveros; Drew Mellor; Kaushal S Gandhi; Fiona C McKay; Mathew B Cox; Regina Berretta; S Yahya Vaezpour; Mario Inostroza-Ponta; Simon A Broadley; Robert N Heard; Stephen Vucic; Graeme J Stewart; David W Williams; Rodney J Scott; Jeanette Lechner-Scott; David R Booth; Pablo Moscato Journal: PLoS One Date: 2010-12-01 Impact factor: 3.240
Authors: Miguel Muñoz-Ruiz; Verónica Pérez-Flores; Beatriz Garcillán; Alberto C Guardo; Marina S Mazariegos; Hidetoshi Takada; Luis M Allende; Sara S Kilic; Ozden Sanal; Chaim M Roifman; Eduardo López-Granados; María J Recio; Eduardo Martínez-Naves; Edgar Fernández-Malavé; José R Regueiro Journal: BMC Immunol Date: 2013-01-21 Impact factor: 3.615