Novel mutations in TNFRSF7/CD27: Clinical, immunologic, and genetic characterization of human CD27 deficiency Omar K. Alkhairy, MD, Ruy Perez-Becker,

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Presentation transcript:

Novel mutations in TNFRSF7/CD27: Clinical, immunologic, and genetic characterization of human CD27 deficiency Omar K. Alkhairy, MD, Ruy Perez-Becker, MD, Gertjan J. Driessen, MD, PhD, Hassan Abolhassani, MD, Joris van Montfrans, MD, PhD, Stephan Borte, MD, Sharon Choo, MD, Ning Wang, PhD, Kiki Tesselaar, PhD, Mingyan Fang, PhD, Kirsten Bienemann, MD, Kaan Boztug, MD, Ana Daneva, MSc, Francoise Mechinaud, MD, Thomas Wiesel, MD, Christian Becker, MD, Gregor Dückers, MD, Kathrin Siepermann, MD, Menno C. van Zelm, PhD, Nima Rezaei, MD, PhD, Mirjam van der Burg, PhD, Asghar Aghamohammadi, MD, PhD, Markus G. Seidel, MD, Tim Niehues, MD, Lennart Hammarström, MD, PhD Journal of Allergy and Clinical Immunology Volume 136, Issue 3, Pages 703-712.e10 (September 2015) DOI: 10.1016/j.jaci.2015.02.022 Copyright © 2015 American Academy of Allergy, Asthma & Immunology Terms and Conditions

Fig 1 Locations of all known mutations in patients with CD27 deficiency (P1-P17, Table I). Journal of Allergy and Clinical Immunology 2015 136, 703-712.e10DOI: (10.1016/j.jaci.2015.02.022) Copyright © 2015 American Academy of Allergy, Asthma & Immunology Terms and Conditions

Fig E1 A, Family pedigree (P15 an P16). /, Deceased; double line, consanguinity; half-filled symbol, heterozygous; solid black symbols, homozygous; open symbols, unknown. B, Sequence analysis of CD27 (reverse primer; c.G287A/p.C96Y mutation in gray): homozygous mutation in P15 and heterozygous mutation in the mother (III.2). C, Sequence analysis of CD27 (forward primer; c.G287A/p.C96Y mutation in gray): homozygous mutation in P15 (IV.3) and P16 (IV.1) and a heterozygous mutation in the father (III.1) and 2 siblings (IV.4 and IV.2). Journal of Allergy and Clinical Immunology 2015 136, 703-712.e10DOI: (10.1016/j.jaci.2015.02.022) Copyright © 2015 American Academy of Allergy, Asthma & Immunology Terms and Conditions

Fig E2 Flow cytometric immunophenotyping in P11 to P14 and relatives with different CD27 mutations compared with healthy control subjects. Het, Heterozygous; Hom, homozygous. Journal of Allergy and Clinical Immunology 2015 136, 703-712.e10DOI: (10.1016/j.jaci.2015.02.022) Copyright © 2015 American Academy of Allergy, Asthma & Immunology Terms and Conditions

Fig E3 Flow cytometric immunophenotyping showing the fraction of CD21+ and CD27+ B cells within the CD19+ B-cell fraction was determined in a healthy control subject, the father of P16 (heterozygous p.C96Y), and P16 (homozygous p.C96Y). The switched memory B-cell panel shows absent surface CD27 expression for P16. Other heterozygous family members had expression patterns similar to the father. PE, Phycoerythrin; PerCP, peridinin-chlorophyll-protein complex. Journal of Allergy and Clinical Immunology 2015 136, 703-712.e10DOI: (10.1016/j.jaci.2015.02.022) Copyright © 2015 American Academy of Allergy, Asthma & Immunology Terms and Conditions