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Case Reports
. 2019 Nov 12;3(21):3432-3435.
doi: 10.1182/bloodadvances.2019000575.

Thrombotic thrombocytopenic purpura and defective apoptosis due to CASP8/10 mutations: the role of mycophenolate mofetil

F Fioredda  1 , E Cappelli  1 , A Mariani  1 , A Beccaria  1 , E Palmisani  1 , A Grossi  2 , I Ceccherini  2 , R Venè  3 , C Micalizzi  1 , M Calvillo  1 , F Pierri  1 , I Mancini  4 , F Peyvandi  5   6 , F Corsolini  7 , C Dufour  1 , M Miano  1
Affiliations
Case Reports

Thrombotic thrombocytopenic purpura and defective apoptosis due to CASP8/10 mutations: the role of mycophenolate mofetil

F Fioredda et al. Blood Adv. .

Abstract

  1. Immunological dysregulation may underlie unusual autoimmune diseases, which also deserve to be investigated from a genetic point of view.

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Conflict of interest statement

Conflict-of-interest disclosure: I.M. has received honoraria for participating as a speaker at an educational meeting organized by Instrumentation Laboratory and for participating at a Sanofi advisory board meeting. F.P. is a member of the scientific advisory board of Bioverativ, Roche, Sanofi, and Takeda. The remaining authors declare no competing financial interests.

Figures

Figure 1.
Figure 1.
Lower cell death after stimulation of apoptosis by FAS-L/TRAIL and reduction of CASP8 and PARP cleavage due to reduced activity of CASP10 protein in our patient (pt) compared to the control. (A) Apoptosis proteins cleavage and cell death induced by FAS-L (10 ng/mL); values given as percentage. (B) Apoptosis proteins cleavage and cell death stimulated by TRAIL (100 mM); values given as percentage. cl, cleaved; wt, wild type.
See this image and copyright information in PMC

References

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