Novel mutations in TNFRSF7/CD27: Clinical, immunologic, and genetic characterization of human CD27 deficiency.

doi:10.1016/j.jaci.2015.02.022

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Article

Novel mutations in TNFRSF7/CD27: Clinical, immunologic, and genetic characterization of human CD27 deficiency.

The Journal of allergy and clinical immunology - 1 Sept 2015

Alkhairy Omar K, Perez-Becker Ruy, Driessen Gertjan J, Abolhassani Hassan, van Montfrans Joris, Borte Stephan, Choo Sharon, Wang Ning, Tesselaar Kiki, Fang Mingyan, Bienemann Kirsten, Boztug Kaan, Daneva Ana, Mechinaud Francoise, Wiesel Thomas, Becker Christian, Dückers Gregor, Siepermann Kathrin, van Zelm Menno C, Rezaei Nima, van der Burg Mirjam, Aghamohammadi Asghar, Seidel Markus G, Niehues Tim, Hammarström Lennart

Abstract excerpt

BACKGROUND: The clinical and immunologic features of CD27 deficiency remain obscure because only a few patients have been identified to date. OBJECTIVE: We sought to identify novel mutations in TNFRSF7/CD27 and to provide an overview of clinical, immunologic, and laboratory phenotypes in patients with CD27 deficiency. METHODS: Review of the medical records and molecular, genetic, and flow cytometric analyses of...

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PMID: 25843314
DOI: 10.1016/j.jaci.2015.02.022

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

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