Archives of Disease in Childhood 2003;88:A54
© 2003 BMJ Publishing Group & Royal College of Paediatrics and Child Health
Allergy, immunity, and infection
| The first 150 words of the full text of this article appear below. |
G155. SECKEL PHENOTYPE, RADIOSENSITIVITY, GROWTH FAILURE, MYELODYSPLASIA AND COMBINED IMMUNODEFICIENCY DUE TO DNA LIGASE IV MUTATIONS
A.R. Gennery, A.J. Cant, J. Seidel1, S.E. Palmer2, M. ODriscoll3, K. Cerosaletti4, B. Gruhn1, R. Varon5, R.A. Gatti6, B. Hirsch7, P. Concannon4, P. Jeggo3.
University of Newcastle upon Tyne, 3University of Sussex, UK; 1Friedrich-Schiller-University, 5Charite Humboldt University, Germany; Universities of 2Texas, 4Washington, 6California, 7Minnesota, USA
Introduction: DNA repair pathway defects cause immunodeficiency, developmental delay, lymphoreticular malignancy, e.g. Ataxia telengectasia, Nijmegen Breakage Syndrome (NBS). We describe clinical characteristics of 4 patients with DNA Ligase IV (LigIV) defects.
Patients: Two male, 2 female patients (age 149 years), including 2 siblings. All had Seckel-like appearance; growth retardation, learning difficulties and global developmental delay. Three developed pancytopenia and marrow hypoplasia. Two had panlymphopenia with profound B cell lymphopenia. T cell responses to lymphocyte mitogens were markedly reduced. Immunoglobulin levels were normal, but IgG2 subclass was below the age-related reference. Specific antibody response to protein . . . [Full text of this article]
Terms and conditions relating to subscriptions purchased online ¦ Website terms and conditions ¦ Privacy policy
Copyright © 2003 BMJ Publishing Group Ltd & Royal College of Paediatrics and Child Health