Table 1

Genotype and phenotype of allospecific T-cell clones from WAS 995C>T patient

Genotype (WT CGA-Arg)No. of clones carrying specified genotype
WASp expression +/−Present in primary cells*CD3
First blood draw
Second blood draw
CD4†CD8‡NDTotal% of totalTotal% of total
995C>T germline mutation (Stop) 112§ 8 15 135 50.6 69 50.0 − + 
% CD4 or CD8 clones with germline mutation 65 18        
Class I          
    995C>T>A (Arg) 33 6 15 54 20.2 31 22.5 + + 
    995C>T>C (Wt-Arg) 0 0 2 2 0.7 0 0.0 ND + 
    995C>T>G (Gly) 3 1 3 7 2.6 3 2.2 + + 
    995C>T, 996G>C (Ser) 9 8 3 20 7.5 7 5.1 + + 
    995C>T, 996G>T (Leu) 0 0 0 1∥ 0.4 0 0.0 + + 
    995C>T, 997A>C (Cys) 0 3 0 3 1.1 0 0.0 + + 
    CD4 or CD8 clones with class I genotype, % 26 40        
    Total class I    86 32.2 41 29.7   
Class II          
    995C>T, IVS9 −1G>A 0 5 3 8 3.0 3 2.2 + + 
    995C>T, IVS9 −2A>C    0 0.0 1 0.7 + − 
    995C>T, IVS9 −2A>G    0 0.0 1 0.7 + − 
    995C>T, IVS9 −3C>G 1 11 2 14 5.2 4 2.9 + + 
    995C>T, IVS9 −3C>T 1 0 0 1 0.4 3 2.2 + + 
    995C>T, IVS9 −6C>G    0 0.0 1 0.7 + − 
    995C>T, IVS9 −7T>G 0 0 1 1 0.4 0 0.0 ND + 
    995C>T, IVS9 −7T>A 2 0 0 2 0.7 0 0.0 + − 
    995C>T, IVS9 −12C>G 2 0 0 2 0.7 2 1.4 + + 
    995C>T, IVS9 −24C>G 2 0 0 2 0.7 3 2.2 + (weak) + 
    995C>T, IVS9 −27C>G    0 0.0 1 0.7 + (weak) − 
    995C>T, IVS9 −84G>C    0 0.0 1 0.7 + (weak) + 
    CD4 or CD8 clones with class II genotype, % 5 36        
    Total class II    30 11.2 20 14.5   
Class III          
    995C>T, 988G>T    0 0.0 1 0.7 + − 
    995C>T, 999G>C    0 0.0 1 0.7 + (weak) − 
    995C>T, 1007C>T 2 0 0 2 0.7 0 0.0 + − 
    995C>T, 1095C>T 0 0 1 1 0.4 0 0.0 ND + 
    995C>T, 1109C>T, 1110C>T 1 0 0 1 0.4 0 0.0 ND − 
    995C>T, 1124C>T 0 0 1 1 0.4 2 1.4 + (weak) + 
    995C>T, 1155C>G    0 0.0 1 0.7 + (weak) − 
    CD4 or CD8 clones with class III genotype, % 2 0        
    Total class III    5 1.9 5 3.6   
Class IV          
    995C>T, del IVS9 −84 to −21 (64 bp) 0 1 0 1 0.4 0 0.0 + − 
    995C>T, del IVS9 −32 to −18 (15 bp)    0 0.0 2 1.4 + − 
    del IVS9 −74 to exon 10 1045 (154 bp) 0 1 0 1 0.4 0 0.0 + + 
    del exon 10 968 to 1057 (90 bp, 30 aa) 0 0 1 1 0.4 0 0.0 ND − 
    995C>T, del exon 10 976 to 991 (16 bp) 1 0 0 1 0.4 0 0.0 + − 
    del exon 10 984 to 1028 (45 bp, 15 aa) 0 1 1 2 0.7 1 0.7 + − 
    del exon 10 988 to 1050 (63 bp, 21 aa) 1 0 0 1 0.4 0 0.0 ND − 
    del exon 10 992 to 997 (6 bp, 2 aa) 1 0 0 1 0.4 0 0.0 + − 
    995C>T, del exon 10 996 to 998 (3 bp) 2 0 0 2 0.7 0 0.0 ND − 
    CD4 or CD8 clones with class IV genotype, % 3 7        
    Total class IV    10 3.7 3 2.2   
Total no. of clones 173 45 48 267 100.0 138 100.0   
CD4 or CD8 clones, % 65 17        
Genotype (WT CGA-Arg)No. of clones carrying specified genotype
WASp expression +/−Present in primary cells*CD3
First blood draw
Second blood draw
CD4†CD8‡NDTotal% of totalTotal% of total
995C>T germline mutation (Stop) 112§ 8 15 135 50.6 69 50.0 − + 
% CD4 or CD8 clones with germline mutation 65 18        
Class I          
    995C>T>A (Arg) 33 6 15 54 20.2 31 22.5 + + 
    995C>T>C (Wt-Arg) 0 0 2 2 0.7 0 0.0 ND + 
    995C>T>G (Gly) 3 1 3 7 2.6 3 2.2 + + 
    995C>T, 996G>C (Ser) 9 8 3 20 7.5 7 5.1 + + 
    995C>T, 996G>T (Leu) 0 0 0 1∥ 0.4 0 0.0 + + 
    995C>T, 997A>C (Cys) 0 3 0 3 1.1 0 0.0 + + 
    CD4 or CD8 clones with class I genotype, % 26 40        
    Total class I    86 32.2 41 29.7   
Class II          
    995C>T, IVS9 −1G>A 0 5 3 8 3.0 3 2.2 + + 
    995C>T, IVS9 −2A>C    0 0.0 1 0.7 + − 
    995C>T, IVS9 −2A>G    0 0.0 1 0.7 + − 
    995C>T, IVS9 −3C>G 1 11 2 14 5.2 4 2.9 + + 
    995C>T, IVS9 −3C>T 1 0 0 1 0.4 3 2.2 + + 
    995C>T, IVS9 −6C>G    0 0.0 1 0.7 + − 
    995C>T, IVS9 −7T>G 0 0 1 1 0.4 0 0.0 ND + 
    995C>T, IVS9 −7T>A 2 0 0 2 0.7 0 0.0 + − 
    995C>T, IVS9 −12C>G 2 0 0 2 0.7 2 1.4 + + 
    995C>T, IVS9 −24C>G 2 0 0 2 0.7 3 2.2 + (weak) + 
    995C>T, IVS9 −27C>G    0 0.0 1 0.7 + (weak) − 
    995C>T, IVS9 −84G>C    0 0.0 1 0.7 + (weak) + 
    CD4 or CD8 clones with class II genotype, % 5 36        
    Total class II    30 11.2 20 14.5   
Class III          
    995C>T, 988G>T    0 0.0 1 0.7 + − 
    995C>T, 999G>C    0 0.0 1 0.7 + (weak) − 
    995C>T, 1007C>T 2 0 0 2 0.7 0 0.0 + − 
    995C>T, 1095C>T 0 0 1 1 0.4 0 0.0 ND + 
    995C>T, 1109C>T, 1110C>T 1 0 0 1 0.4 0 0.0 ND − 
    995C>T, 1124C>T 0 0 1 1 0.4 2 1.4 + (weak) + 
    995C>T, 1155C>G    0 0.0 1 0.7 + (weak) − 
    CD4 or CD8 clones with class III genotype, % 2 0        
    Total class III    5 1.9 5 3.6   
Class IV          
    995C>T, del IVS9 −84 to −21 (64 bp) 0 1 0 1 0.4 0 0.0 + − 
    995C>T, del IVS9 −32 to −18 (15 bp)    0 0.0 2 1.4 + − 
    del IVS9 −74 to exon 10 1045 (154 bp) 0 1 0 1 0.4 0 0.0 + + 
    del exon 10 968 to 1057 (90 bp, 30 aa) 0 0 1 1 0.4 0 0.0 ND − 
    995C>T, del exon 10 976 to 991 (16 bp) 1 0 0 1 0.4 0 0.0 + − 
    del exon 10 984 to 1028 (45 bp, 15 aa) 0 1 1 2 0.7 1 0.7 + − 
    del exon 10 988 to 1050 (63 bp, 21 aa) 1 0 0 1 0.4 0 0.0 ND − 
    del exon 10 992 to 997 (6 bp, 2 aa) 1 0 0 1 0.4 0 0.0 + − 
    995C>T, del exon 10 996 to 998 (3 bp) 2 0 0 2 0.7 0 0.0 ND − 
    CD4 or CD8 clones with class IV genotype, % 3 7        
    Total class IV    10 3.7 3 2.2   
Total no. of clones 173 45 48 267 100.0 138 100.0   
CD4 or CD8 clones, % 65 17        

ND indicates not determined.

*

Indicates whether genotype, first identified in allospecific T-cell clone was also confirmed in uncultured, immunomagnetically isolated CD3+ (including CD3+/CD8−) cells.

†

Allospecific T-cell clones initiated either with CD3+/CD8− cells or with total PBMCs and subsequently identified by fluorescence-activated cell sorting (FACS) to be CD4+.

‡

Allospecific T-cell clones initiated with CD8+ cells or with total PBMCs and subsequently identified by FACS to be CD8+.

§

Indicated is the number of primary T-cell clones with the specified genotypes.

∥

This 996G>T clone was of CD4−/CD8− phenotype.

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