Table 5 Features of gene mutation in 8 SPTCL cases
Patient | HAVCR2(TIM-3) | Germline status | Blood and immune system disease genetic susceptibility gene testing |
|---|---|---|---|
P9 | Y82C | Homozygous | – |
P10 | Y82C | Homozygous | – |
P11 | Y82C | Homozygous | – |
P16 | Y82C | Homozygous | – |
P17 | Negative | – | – |
P2 | – | Non-Synonymous | RAD9A:Chr11: NM_004584, exon8:c.A716G p.H239R,VF:44.00% |
P6 | – | Non-Synonymous | KLF1:Chr19:NM_006563:exon2:c.T544C,p.F182L,VF:41.18%;GALT:Chr9,NM_000155:exon10:c.A940G,p.N314D,VF:46.67%; GALC:Chr14:NM_000153:exon16:c.T1901C,p.L634S,,VF:36.73% |
P7 | – | Non-Synonymous | CARD9:Chr9-139,265,289:NM_052813:exon5:c.627 + 4C > T, Chronic mucocutaneous candidiasis type 2; CYBB:ChrX-37665739:NM_000397:exon11:c.1414G > A,p.G472S,Chronic granuloma, immunodeficiency type 34; LRBA:Chr4-151,935,743:NM_006726:exon2:c.52G > A,p.G18R,Immunodeficiency type 8 with autoimmune disease; LIG4:Chr13-108,861,645:NM_002312:exon2:c.1972A > G,p.I658V,LIG4 syndrome |