© 2003 BMJ Publishing Group & Royal College of Paediatrics and Child Health
Abstracts
Allergy, immunity, and infection
| The first 150 words of the full text of this article appear below. |
A.R. Gennery, A.J. Cant, J. Seidel1, S.E. Palmer2, M. O’Driscoll3, 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 1–49 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
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