| Patient (kindred) | Mutation | PKCδ expression | p40phox phosphorylation | ROS production in circulating phagocytes | ROS production in monocyte-derived cells |
|---|---|---|---|---|---|
| P1 (A) | p.R614W/p.R614W | Impaired (EBV-B cells) | Impaired after PMA and Pansorbin (EBV-B cells) | NT | Impaired after PMA, PMA + IFN-γ and PMA + LPS (MDMs and MDDCs) |
| P2 (B) | p.G248S/p.G248S | Normal (EBV-B cells and MDMs) | Impaired after PMA and Pansorbin (EBV-B cells and MDMs) | Impaired after PMA (neutrophils and monocytes) | Impaired after PMA, PMA + IFN-γ and PMA + LPS (MDMs and MDDCs) |
| P3 (C) | p.G510S/p.G510S | Impaired (EBV-B cells, neutrophils, and MDMs) | Impaired after PMA and Pansorbin (EBV-B cells and MDMs) | Impaired after PMA and E. coli (neutrophils and monocytes) | Impaired after PMA, PMA + IFN-γ and PMA + LPS (MDMs and MDDCs) |
| P4 (C) | p.G510S/p.G510S | NT | NT | NT | NT |
| P5 (C) | p.G510S/p.G510S | Impaired (EBV-B cells) | Impaired after PMA and Pansorbin (EBV-B cells) | Impaired after PMA (neutrophils and monocytes) | Impaired after PMA, PMA + IFN-γ and PMA + LPS (MDMs and MDDCs) |
| P6 (D) | c.1352 + 1G>A/c.1352 + 1G>A | Abolished (EBV-B cells) | Impaired (EBV-B cells) | Impaired after PMA (neutrophils and monocytes) | Impaired after PMA, PMA + IFN-γ and PMA + LPS (MDMs and MDDCs) |
| P7 (E) | p.G432W | NT | NT | NT | NT |
| P8 (E) | p.G432W | NT | NT | NT | NT |
| P9 (E) | p.G432W | NT | NT | NT | NT |
| P10 (F) | c.788-2A>G/p.Q191* | Abolished (EBV-B cells) | Impaired after PMA and Pansorbin (EBV-B cells) | Impaired after PMA (neutrophils and monocytes) | Impaired after PMA, PMA + IFN-γ and PMA + LPS (MDMs and MDDCs) |
| P11 (F) | c.788-2A>G/p.Q191* | Abolished (EBV-B cells) | Impaired after PMA and Pansorbin (EBV-B cells) | Impaired after PMA (neutrophils and monocytes) | Impaired after PMA, PMA + IFN-γ and PMA + LPS (MDMs and MDDCs) |
| P12 (G) | c.1293_1294insA/c.1293_1294insA | NT | NT | NT | NT |
| P13 (H) | c.571 + 2dup/c.571 + 2dup | Abolished (EBV-B cells, neutrophils, monocytes, and MDMs) | Impaired after PMA and Pansorbin (EBV-B cells) | Impaired after PMA (neutrophils and monocytes) | Impaired after PMA, PMA + IFN-γ and PMA + LPS (MDMs and MDDCs) |
| P14 (I) | c.1384C>T/c.1384C>T | Abolished (MDMs) | Impaired (MDMs) | Impaired after PMA and E. coli (neutrophils and monocytes) | Impaired after PMA and PMA + IFN-γ (MDMs) |
| P15 (I) | c.1384C>T/c.1384C>T | NT | NT | Impaired after PMA and E. coli (neutrophils and monocytes) | Impaired after PMA and PMA + IFN-γ (MDMs) |
| P16 (J) | c.642del/c.642del | Abolished (MDMs) | Impaired (MDMs) | Impaired after PMA and E. coli (neutrophils and monocytes) | Impaired after PMA and PMA + IFN-γ (MDMs) |
| P17 (J) | c.642del/c.642del | Abolished (MDMs) | Impaired (MDMs) | Impaired after PMA and E. coli (neutrophils and monocytes) | Impaired after PMA and PMA + IFN-γ (MDMs) |
| Patient (kindred) | Mutation | PKCδ expression | p40 | ROS production in circulating phagocytes | ROS production in monocyte-derived cells |
|---|---|---|---|---|---|
| p.R614W/p.R614W | Impaired (EBV-B cells) | Impaired after PMA and Pansorbin (EBV-B cells) | NT | Impaired after PMA, PMA + IFN-γ and PMA + LPS (MDMs and MDDCs) | |
| p.G248S/p.G248S | Normal (EBV-B cells and MDMs) | Impaired after PMA and Pansorbin (EBV-B cells and MDMs) | Impaired after PMA (neutrophils and monocytes) | Impaired after PMA, PMA + IFN-γ and PMA + LPS (MDMs and MDDCs) | |
| p.G510S/p.G510S | Impaired (EBV-B cells, neutrophils, and MDMs) | Impaired after PMA and Pansorbin (EBV-B cells and MDMs) | Impaired after PMA and | Impaired after PMA, PMA + IFN-γ and PMA + LPS (MDMs and MDDCs) | |
| p.G510S/p.G510S | NT | NT | NT | NT | |
| p.G510S/p.G510S | Impaired (EBV-B cells) | Impaired after PMA and Pansorbin (EBV-B cells) | Impaired after PMA (neutrophils and monocytes) | Impaired after PMA, PMA + IFN-γ and PMA + LPS (MDMs and MDDCs) | |
| c.1352 + 1G>A/c.1352 + 1G>A | Abolished (EBV-B cells) | Impaired (EBV-B cells) | Impaired after PMA (neutrophils and monocytes) | Impaired after PMA, PMA + IFN-γ and PMA + LPS (MDMs and MDDCs) | |
| p.G432W | NT | NT | NT | NT | |
| p.G432W | NT | NT | NT | NT | |
| p.G432W | NT | NT | NT | NT | |
| c.788-2A>G/p.Q191* | Abolished (EBV-B cells) | Impaired after PMA and Pansorbin (EBV-B cells) | Impaired after PMA (neutrophils and monocytes) | Impaired after PMA, PMA + IFN-γ and PMA + LPS (MDMs and MDDCs) | |
| c.788-2A>G/p.Q191* | Abolished (EBV-B cells) | Impaired after PMA and Pansorbin (EBV-B cells) | Impaired after PMA (neutrophils and monocytes) | Impaired after PMA, PMA + IFN-γ and PMA + LPS (MDMs and MDDCs) | |
| c.1293_1294insA/c.1293_1294insA | NT | NT | NT | NT | |
| c.571 + 2dup/c.571 + 2dup | Abolished (EBV-B cells, neutrophils, monocytes, and MDMs) | Impaired after PMA and Pansorbin (EBV-B cells) | Impaired after PMA (neutrophils and monocytes) | Impaired after PMA, PMA + IFN-γ and PMA + LPS (MDMs and MDDCs) | |
| c.1384C>T/c.1384C>T | Abolished (MDMs) | Impaired (MDMs) | Impaired after PMA and | Impaired after PMA and PMA + IFN-γ (MDMs) | |
| c.1384C>T/c.1384C>T | NT | NT | Impaired after PMA and | Impaired after PMA and PMA + IFN-γ (MDMs) | |
| c.642del/c.642del | Abolished (MDMs) | Impaired (MDMs) | Impaired after PMA and | Impaired after PMA and PMA + IFN-γ (MDMs) | |
| c.642del/c.642del | Abolished (MDMs) | Impaired (MDMs) | Impaired after PMA and | Impaired after PMA and PMA + IFN-γ (MDMs) |
Functional results obtained in cell lines (EBV-B cells) or primary cells (neutrophils, monocytes, MDMs, and MDDCs). EBV-B cells, EBV-immortalized B cells; NT, not tested.
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