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. Author manuscript; available in PMC: 2019 Mar 5.
Published in final edited form as: Nat Immunol. 2016 Oct 24;17(12):1352–1360. doi: 10.1038/ni.3575

Figure 1. Identification of human RASGRP1 deficiency.

Figure 1

(a) Pedigree of the index family: double lines indicate consanguinity; filled black indicates the index patient; diagonal lines indicate deceased siblings. (b) Computed tomography scan of the index patient showing bronchiectatic segments, centrilobular nodular opacities, and paratracheal, subcarinal and bilateral hilar lymphadenopathy. (c) Longitudinal peripheral blood lymphocyte counts (exact measurements, Supplementary Table 1); gray dotted lines represent reference values. (d) Capillary sequencing confirmation of the stop-gain mutation in RASGRP1 (c. C726T, p. Arg246*). (e) RASGRP1 protein domains: red arrow indicates position of the stop-gain mutation; black arrow indicates the Thr184 PKC-phosphorylation site (Thr184#). (f) Cropped immunoblot analysis of wild-type (WT) and mutant (Arg246*) RASGRP1 tagged at the amino terminus with Strep-HA-in doxycyclin-inducible HEK293T cells. *, expected size of the truncated protein. (g) Cropped immunoblot analysis of full-length RASGRP1 in EBV-immortalized B cells from the patient (P1) and two normal donors (ND). Data are representative of four (f) or two (g) independent experiments.