A Severe Form of Human Combined Immunodeficiency Due to Mutations in DNA Ligase IV
Enders, Anselm; Fisch, Paul; Schwarz, Klaus; Duffner, Ulrich; Pannicke, Ulrich; Nikolopoulos, Elisabeth; Peters, Anke; Orlowska-Volk, Marzenna; Schindler, Detlev; Friedrich, Wilhelm; Selle, Barbara; Niemeyer, Charlotte; Ehl, Stephan
DNA ligase IV (LigIV) deficiency was identified as the molecular basis for a severe form of combined immunodeficiency in two microcephalic siblings with cellular radiosensitivity. In one patient the diagnosis was made directly after birth, allowing analysis of the role of LigIV in the development of specific immune cells. Absolute numbers of B cells were reduced 100-fold and αβ T cells 10-fold, whereas γδ cells were normal. Spectratyping of all three cell populations showed a diverse...[Show more]
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|Source:||Journal of Immunology|
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