Identification of a homozygous loss‐of‐function mutation in RASGRP1 in two siblings with Hodgkin lymphoma and defective immunity to EBV Identification.

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Identification of a homozygous loss‐of‐function mutation in RASGRP1 in two siblings with Hodgkin lymphoma and defective immunity to EBV Identification of a homozygous loss‐of‐function mutation in RASGRP1 in two siblings with Hodgkin lymphoma and defective immunity to EBV Pedigree of the family in which the c.1910_1911insAG mutation in RASGRP1 was identified. The arrow indicates the proband (P1.1) who was analyzed by WES.EBV load in the blood of patient P1.1 is shown as the number of EBV copies detected by PCR at different time points (black circles). Arrows correspond to the anti‐CD20/rituximab treatments received by the patient with the age (year, y; month, m) of patient at the time of the treatment.Schematic representation of intron–exon organization of the RASGRP1 gene and its correspondence at protein level with the different domains of RASGRP1 shown: the Ras exchanger motif (REM), the Ras‐guanine exchange factor (RasGEF), the EF‐hand, the C1, and the bZIP domains. The mutation is indicated by an arrow at gene and protein levels.DNA electropherograms of the family showing the g.38786931_38786932insAG mutation in P1.1 and P1.2 that is shown in the box.Expression of RASGRP1 transcript in T‐cell blasts of healthy control and the patient P1.1 (Pat.). The relative expression of full‐length RASGRP1 transcript was examined by qRT–PCR in T‐cell blasts of a healthy control and P1.1. Fourfold serial dilutions of cDNAs (1, 0.5, 0.25, and 0.12) were used for amplification of each transcript after quantitation. Base pair markers are shown on the left. PCR products were verified by sequencing showing the expression of c.1910_1911insAG RASGRP1 transcript in the cells of the patient.Immunoblots for RASGRP1 expression in T‐cell blasts from a healthy control (Ctr.) and P1.1 (Pat.) from two different samples (#1 and #2) (left panel). Comparison of RASGRP1 expression in T‐cell blasts of control (Ctr.) and patient (Pat.) and in HEK293T cells transfected with empty vector, WT‐RASGRP1 or RASGRP1A638GfsX16 (right panel). RASGRP1 detection using the anti‐RASGRP1 antibody MABS146. Actin was used as a loading control. The presence of truncated RASGRP1A638GfsX16 species detected in HEK293T is indicated by asterisks in the right panel. One representative of three independent experiments from different blood samples. Source data are available online for this figure. Sarah Winter et al. EMBO Mol Med. 2018;10:188-199 © as stated in the article, figure or figure legend