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Table 1.

Antibodies used for flow cytometry

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Figure 1.

High percentages of CD56bright NK cells in two symptomatic TAP-deficient patients.

PBMC from four normal donors and the patients were stained with fluorochrome-conjugated antibodies and analyzed by flow cytometry. Expression of CD16 and CD56 is shown on gated CD3CD19 lymphocytes (one representative experiment). Percentages of CD56bright NK cells among total NK cells are indicated for each donor.

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Table 2.

NK cell subsets in TAP-deficient patients and healthy control donors

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Table 3.

Characteristics of patients with diseases other than TAP deficiency

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Table 4.

NK cell subsets in additional healthy donors and patients with diseases other than TAP deficiency

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Figure 2.

Dramatic over-expression of NKG2A on both CD56bright and CD56dim NK cell subsets of symptomatic TAP-deficient patients.

Mean fluorescence intensities (MFI) of NKG2A were expressed relative to the values of a randomly chosen healthy donor arbitrarily considered as 100%. Mean values of different subject groups were calculated. ND: normal donors (n = 17); CF: cystic fibrosis patients (N = 2), V: vasculitis patients (n = 5), inf. R.I.: infected respiratory insufficiency (n = 5), uninf. R.I.: uninfected respiratory insufficiency (n = 5); EFA, EMO: symptomatic TAP-deficient patients; DFH, SFH: asymptomatic TAP-deficient patients.

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Figure 3.

Over-expression of ILT2 on CD56dim NK cells of symptomatic and asymptomatic patients.

Mean fluorescence intensities (MFI) of ILT2 were expressed relative to the values of a randomly chosen control donor arbitrarily considered as 100%. Mean values of different subject groups were calculated. ND: normal donors (n = 17); CF: cystic fibrosis patients (N = 2), V: vasculitis patients (n = 5), inf. R.I.: infected respiratory insufficiency (n = 5), uninf. R.I.: uninfected respiratory insufficiency (n = 5); EFA, EMO: symptomatic TAP-deficient patients; DFH, SFH: asymptomatic TAP-deficient patients.

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Figure 4.

TAP-deficient PHA-induced T cell blasts are resistant to killing by activated autologous NK cells even in the presence of antibodies masking inhibitory receptors.

A standard 51Chromium release assay was performed with activated NK cells from two normal donors (NK ND A, NK ND B) and of patient EMO (NK EMO) as effectors and TAP-deficient PHA-induced T cell blasts from patient EMO as targets. The effector to target (E/T) ratio was 6/1. Masking Ab were used at a concentration of 10 µg/ml. Indicated values correspond to the percentages of specific lysis.

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