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Allergy, immunity, and infection

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. 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 . . . [Full text of this article]