LM is a 42-year-old woman who has been afflicted with bouts of
systemic lupus erythematosus (SLE) on and off since being diagnosed
in her early 20’s. Immunosuppressive agents, Hydroxychloroquine and
Prednisone, have been effective at managing symptoms; however, the
condition has currently “flared” and she is experiencing fevers,
joint pain and swelling and skin rashes that the Hydroxychloroquine
and Prednisone no longer suppress. The primary care prescriber
reviews the literature quickly, sees that the purine analog
azathioprine can be used to manage SLE, and wishes to change to
this course of therapy. As you have the genomic history of LM, you
are consulted on this case. What would be your recommendation for
LM?
What are the gene(s) relevant to this case?
What is your recommendation and why?
FOR ACADEMIC PURPOSES ONLY - NOT FOR CLINICAL USE Test Details Gene Genotype Alleles Tested CYP2C19 *1/*1 *2/2 Phenotype Normal Metabolizer Normal Metabolizer CYP2D6 CYP3A5 *3/3 Poor Metabolizer *2,*3,*4, *4B, *5, *6, 7, 8, 9,*17 *2,3,*4,*4M, *6,*7, 8, 9, 10,*12, *14A,*14B,*17,*29,35,41 *1D,*2,3,*3B,*3C, 6,*7,*8,*9 *1B, *2, 3, 12, 17,*22 -1639G>A *2,3,4,5,6,*11 CYP3A4 *1/*1B VKORC1 - 16396> AG/G *1/*1 CYP2C9 Normal Metabolizer Low Warfarin Sensitivity Normal Metabolizer NormalMetabolizer Normalfunction Normal CYP2 B6 *1/*1 *6,*9 521T>C,388A>G SLCO101 521T>CT/T CFTR rs75527207 G/G Numerous DPYD *1/*1 Numerous Normal Metabolizer Poor Metabolizer TP MT *2, *3A, *3B, 3C4 Norma G6PD HLA-B*15:02 *2/*3 B/B negative/negative negative/ negative negative negative negative negative positive/ negative Numerous All HLA B*15 All HLAB*57 HLA-B*57:01 HLA-B*58:01 Negative Negative Negative Negative Positive All HLAB*58 HLA-A*31:01 All HLAA*31 HLA-A*32:01 All HLAA*32 Cancer Biopsy, cfDNA & IHC Test Details: Cancer Gene Gene Status Phenotype
LM is a 42-year-old woman who has been afflicted with bouts of systemic lupus erythematosus (SLE) on and off since being
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LM is a 42-year-old woman who has been afflicted with bouts of systemic lupus erythematosus (SLE) on and off since being
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