Table 4

Analysis of NEMO gene mosaicism in various cell lineages for each patient

PatientMutationAge at analysisCD4, % (proportion)CD8, % (proportion)CD14, % (proportion)CD19, % (proportion)
Duplication 2 y 90 100 4.0 
Duplication 15 mo 45 66 4.0 
D311E 3 y 2.4 9.9 1.2 
A169P 12 y 0 (0/19) 24 (9/37) 0 (0/19) 0 (0/47) 
L227P 3 y 0 (0/25) 0 (0/35) 0 (0/30) 0 (0/25) 
R182P 4 y 18 (5/28) 17 (9/52) 0 (0/27) 0 (0/33) 
R175P 6 y 0.4 (1/25) 39 (11/28) 0 (0/28) 0 (0/25) 
Q348X 8 y 38 (6/16) 47 (9/19) 0 (0/33) 0 (0/25) 
R175P 15 y 30 (9/30) 36 (12/33) 0 (0/23) 0 (0/14) 
10 1167 ins C 9 mo PBMC 9.3 (4/43) 
PatientMutationAge at analysisCD4, % (proportion)CD8, % (proportion)CD14, % (proportion)CD19, % (proportion)
Duplication 2 y 90 100 4.0 
Duplication 15 mo 45 66 4.0 
D311E 3 y 2.4 9.9 1.2 
A169P 12 y 0 (0/19) 24 (9/37) 0 (0/19) 0 (0/47) 
L227P 3 y 0 (0/25) 0 (0/35) 0 (0/30) 0 (0/25) 
R182P 4 y 18 (5/28) 17 (9/52) 0 (0/27) 0 (0/33) 
R175P 6 y 0.4 (1/25) 39 (11/28) 0 (0/28) 0 (0/25) 
Q348X 8 y 38 (6/16) 47 (9/19) 0 (0/33) 0 (0/25) 
R175P 15 y 30 (9/30) 36 (12/33) 0 (0/23) 0 (0/14) 
10 1167 ins C 9 mo PBMC 9.3 (4/43) 

For patients 1 to 3, data represent the percentages of NEMOnormal cells in each lineage, as assessed by flow cytometry. For patients 4 to 10, the ratio indicates the number of wild-type NEMO clones in various cell lineages as compared with the total number of clones analyzed, based on subcloning and sequencing analysis.

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