APECED patients whose PBMCs were tested for cytokine responses
| Patient | AIRE mutation | Age | CMC | FACS sample | Sample at 72 h | Neutralizing antibody titer against: | Binding antibodies against: a | |||||
| IFN-ω | IL-17A | IL-17F | IL-22 | IL-17A | IL-17F | IL-22 | ||||||
| yr | ||||||||||||
| A | c.[769C>T] + [769C>T]b | 29 | Yes | No | No | 20,000 | <32 | 38 | 9,000 | 0.12 | 3.11 | 0.17 |
| Bc | c.[21_43dup23] + [21_43dup23] | 10 | Yes | Yes | Yes | >51,200 | 250,000 | 75 | 9,000 | 3.85 | 2.43 | 0.55 |
| C | c.[769C>T] + [769C>T] | 17 | Yes | Yes | Yes | >51,200 | <32 | 56 | 5,500 | 0.07 | 1.30 | 0.28 |
| D | c.[1064-1068dupCCCGG] + [1064-1068dupCCCGG] | 18 | Yes | Yes | Yes | >51,200 | <32 | 1,250 | >525,000 | 0.83 | 3.64 | 1.81 |
| E | c.[769C>T] + [769C>T] | 18 | Yes | No | No | >51,200 | <32 | 350 | 160,000 | 0.70 | 3.52 | 1.01 |
| F | c.[769C>T] + [769C>T] | 23 | Yes | No | Yes | 20,000 | 15,000 | 1,300 | 95,000 | 3.90 | 3.90 | 0.79 |
| G | c.[769C>T] + [769C>T] | 60 | Yes | Yes | Yes | 12,800 | <32 | 300 | 13,000 | 0.39 | 3.89 | 0.64 |
| H | c.[769C>T] + [967_979del13] | 20 | Yes | No | Yes | 100,000 | <32 | 5,500 | 4,500 | 2.98 | 3.90 | 0.25 |
| I | c.[967_979del13] + [1163_1164insA] | 24 | Yes | No | Yes | 256,000 | nd | 9,200 | 3,300 | 0.09 | 3.90 | 0.56 |
| J | c.[879 + 1G>A] + [879 + 1G>A] | 48 | No | Yes | No | 30,000 | <32 | <32 | <32 | 0.30 | 0.29 | 0.18 |
| Kc | c.[967_979del13] + [967_979del13] | 21 | No | Yes | Yes | >51,200 | <32 | <32 | <32 | 0.17 | 0.40 | 0.24 |
| L | c.[769C>T] + [c.274C>T] | 55 | No | No | Yes | 12,000 | <32 | <32 | <32 | 0.04 | 0.03 | 0.16 |
| M | c.[967_979del13] + [c.274C>T] | 29 | No | Yes | Yes | 200,000 | <32 | <32 | 930 | 0 | 0.03 | 0.21 |
| Nd | c. [682T>G] + [=] | 40 | No | Yes | Yes | 9,000 | <32 | <32 | <32 | 0.01 | 0.16 | ND |
| Patient | AIRE mutation | Age | CMC | FACS sample | Sample at 72 h | Neutralizing antibody titer against: | Binding antibodies against: a | |||||
| IFN-ω | IL-17A | IL-17F | IL-22 | IL-17A | IL-17F | IL-22 | ||||||
| yr | ||||||||||||
| A | c.[769C>T] + [769C>T]b | 29 | Yes | No | No | 20,000 | <32 | 38 | 9,000 | 0.12 | 3.11 | 0.17 |
| Bc | c.[21_43dup23] + [21_43dup23] | 10 | Yes | Yes | Yes | >51,200 | 250,000 | 75 | 9,000 | 3.85 | 2.43 | 0.55 |
| C | c.[769C>T] + [769C>T] | 17 | Yes | Yes | Yes | >51,200 | <32 | 56 | 5,500 | 0.07 | 1.30 | 0.28 |
| D | c.[1064-1068dupCCCGG] + [1064-1068dupCCCGG] | 18 | Yes | Yes | Yes | >51,200 | <32 | 1,250 | >525,000 | 0.83 | 3.64 | 1.81 |
| E | c.[769C>T] + [769C>T] | 18 | Yes | No | No | >51,200 | <32 | 350 | 160,000 | 0.70 | 3.52 | 1.01 |
| F | c.[769C>T] + [769C>T] | 23 | Yes | No | Yes | 20,000 | 15,000 | 1,300 | 95,000 | 3.90 | 3.90 | 0.79 |
| G | c.[769C>T] + [769C>T] | 60 | Yes | Yes | Yes | 12,800 | <32 | 300 | 13,000 | 0.39 | 3.89 | 0.64 |
| H | c.[769C>T] + [967_979del13] | 20 | Yes | No | Yes | 100,000 | <32 | 5,500 | 4,500 | 2.98 | 3.90 | 0.25 |
| I | c.[967_979del13] + [1163_1164insA] | 24 | Yes | No | Yes | 256,000 | nd | 9,200 | 3,300 | 0.09 | 3.90 | 0.56 |
| J | c.[879 + 1G>A] + [879 + 1G>A] | 48 | No | Yes | No | 30,000 | <32 | <32 | <32 | 0.30 | 0.29 | 0.18 |
| Kc | c.[967_979del13] + [967_979del13] | 21 | No | Yes | Yes | >51,200 | <32 | <32 | <32 | 0.17 | 0.40 | 0.24 |
| L | c.[769C>T] + [c.274C>T] | 55 | No | No | Yes | 12,000 | <32 | <32 | <32 | 0.04 | 0.03 | 0.16 |
| M | c.[967_979del13] + [c.274C>T] | 29 | No | Yes | Yes | 200,000 | <32 | <32 | 930 | 0 | 0.03 | 0.21 |
| Nd | c. [682T>G] + [=] | 40 | No | Yes | Yes | 9,000 | <32 | <32 | <32 | 0.01 | 0.16 | ND |
Positive is a value >0.4 for anti–IL-17A and anti–IL-17F and >0.2 for anti–IL-22.
The mutation c.769C>T causes truncated AIRE protein p.R257X.
PBMCs from patients B and K were tested repeatedly 6 mo apart. The results (unpublished data) were similar to the first stimulation.
Dominant mutation p.G228W.