Table I.

APECED patients whose PBMCs were tested for cytokine responses

PatientAIRE mutationAgeCMCFACS sampleSample at 72 hNeutralizing antibody titer against:Binding antibodies against: a
IFN-ωIL-17AIL-17FIL-22IL-17AIL-17FIL-22
yr
Ac.[769C>T] + [769C>T]b29YesNoNo20,000<32389,0000.123.110.17
Bcc.[21_43dup23] + [21_43dup23]10YesYesYes>51,200250,000759,0003.852.430.55
Cc.[769C>T] + [769C>T]17YesYesYes>51,200<32565,5000.071.300.28
Dc.[1064-1068dupCCCGG] + [1064-1068dupCCCGG]18YesYesYes>51,200<321,250>525,0000.833.641.81
Ec.[769C>T] + [769C>T]18YesNoNo>51,200<32350160,0000.703.521.01
Fc.[769C>T] + [769C>T]23YesNoYes20,00015,0001,30095,0003.903.900.79
Gc.[769C>T] + [769C>T]60YesYesYes12,800<3230013,0000.393.890.64
Hc.[769C>T] + [967_979del13]20YesNoYes100,000<325,5004,5002.983.900.25
Ic.[967_979del13] + [1163_1164insA]24YesNoYes256,000nd9,2003,3000.093.900.56
Jc.[879 + 1G>A] + [879 + 1G>A]48NoYesNo30,000<32<32<320.300.290.18
Kcc.[967_979del13] + [967_979del13]21NoYesYes>51,200<32<32<320.170.400.24
Lc.[769C>T] + [c.274C>T]55NoNoYes12,000<32<32<320.040.030.16
Mc.[967_979del13] + [c.274C>T]29NoYesYes200,000<32<3293000.030.21
Ndc. [682T>G] + [=]40NoYesYes9,000<32<32<320.010.16ND
  • a Positive is a value >0.4 for anti–IL-17A and anti–IL-17F and >0.2 for anti–IL-22.

  • b The mutation c.769C>T causes truncated AIRE protein p.R257X.

  • c PBMCs from patients B and K were tested repeatedly 6 mo apart. The results (unpublished data) were similar to the first stimulation.

  • d Dominant mutation p.G228W.