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. 2018 Jan 29;8:2015. doi: 10.3389/fimmu.2017.02015

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Copyright © 2018 Caorsi, Rusmini, Volpi, Chiesa, Pastorino, Sementa, Uva, Grossi, Lanino, Faraci, Minoia, Signa, Picco, Martini, Ceccherini and Gattorno.

This is an open-access article distributed under the terms of the Creative Commons Attribution License (CC BY). The use, distribution or reproduction in other forums is permitted, provided the original author(s) and the copyright owner are credited and that the original publication in this journal is cited, in accordance with accepted academic practice. No use, distribution or reproduction is permitted which does not comply with these terms.

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(A) Multiple caries in CD70 deficient patient. (B) Histologic analysis of patient’s lymph node showing follicular hyperplasia with paracortical expansion (top left), germinal centers with normal appearance (top right), follicular lysis (lower panels). (C) Copies of EBV DNA (above) and number of CD20 cells (below) detected in the patient. Arrows represent the infusions of rituximab. (D) Family pedigree with the c.163-2A>G variant of the CD70 gene, heterozygous in carriers, and homozygous in the patient. (E) CD70 genomic region and cDNA sequence of the first 3 exons in the patient is depicted, revealing the exon 2 skipping in the electropherogram at the bottom.