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Article

A severe form of human combined immunodeficiency due to mutations in DNA ligase IV.

Journal of immunology (Baltimore, Md. : 1950) - 15 Apr 2006

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

Abstract excerpt

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 alphabeta T cells 10-fold, whereas...

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Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 16585603
DOI: 10.4049/jimmunol.176.8.5060

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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