Table I.

APS-I patients tested

PatientsGenderAgeOriginAIRE genotypeAuto-Abs againstMucocutaneous candidiasis phenotype
LuminexELISAAge of onsetClinical features
IFN-αIL-17AIL-17FIL-22IL-17AIL-17FIL-22
APS-I 1M12 yrSaudi Arabia845insc/845insc8,5847,4061,87411,8100.110.212.4118 moMouth, nails, esophagus
APS-I 2M9 yrAfricac958del/c958del1,0701,26423,96313,6610.032.162.416 yrNails, scalp, eyes
APS-I 3M13 yrAfricac958del/c958del6,4674,82428,27113,2650.032.612.51Nails
APS-I 4F26 yrNorth Africaex6_8del/ex6_8del10,8368281,7657610.020.110.2616 yrNails, scalp
APS-I 5M25 yrNorth Africaex6_8del/ex6_8del12,7851,44816,9802,7580.041.330.267 yrNails, scalp, digestive tract
APS-I 6F10 yrNorth Africaex6_8del/ex6_8del3,7051,99816,7425,69111.091 moMouth, eyes, vulva
APS-I 7M10 yrFranceR257X/P539L20,10927,52325,40918,4462.291.952.832 moMouth, esophagus, respiratory tract
APS-I 8F21 yrIreland964del13/964del1314,1691921,6455,9140.020.130.213 yrMouth, scalp, skin
APS-I 9M20 yrIreland964del13/964del1312,3254556,13511,3450.030.312.063 yrMouth, nails, perineum
APS-I 10F29 yrUK964del13/964del139,37173415,14061500.110.034 yrMouth, esophagus, nails
APS-I 11F36 yrUK964del13/964del1312,0781484,4391020.010.150.16ChildhoodMouth, esophagus, vagina
APS-I 12F41 yrUK964del13/964del136,09817,20124,8379,7490.160.470.644 yrMouth, nails, vagina, anus
APS-I 13F18 yrIreland964del13/964del1313,3793675482,7080.020.10.18ChildhoodSkin, scalp
APS-I 14M12 yrIreland964del13/964del1313,55524,98317,13122,2250.360.351.06Few weeksMouth, nails, scalp
APS-I 15M18 yrUK964del13/964del1316,90628,48425,90720,5852.340.51.073 yrMouth, nails
APS-I 16M18 yrUK964del13/964del1315,47328,26223,92612,0341.890.520.33 yrMouth, nails
APS-I 17M13 yrIreland964del13/964del138,08680523,91714,5580.020.640.915 yrMouth, nails
APS-I 18F10 yrUK964del13/964del1313,0535,28227,40915,2360.031.520.61Few weeksMouth
APS-I 19M6 yrUK964del13/964del1313,79713,58828,02513,5750.251.841.83BirthMouth, perineum
APS-I 20M17 yrUK964del13/964del1311,94611,27225,9042,1290.080.390.127 yrPenis, perineum
APS-I 21M9 yrUK964del13/964del1313,12775212,04818,0390.080.441.112 yrEsophagus, nails
APS-I 22F52 yrUK964del13/c.769C>T8,01295522,8864,502NDNDNDChildhoodMouth
APS-I 23M16 moHungaryR257X/R257X23,21620,0354,53121,0120.550.082.31None
APS-I 24M18 yrHungaryR257X/C449fsX47923,4861,70828,01218,9370.051.970.45None
APS-I 25M14 yrHungaryR257X/L323fsX37323,9232,0259,1695,2590.060.150.18None
APS-I 26F21 yrHungaryR257X/R257X23,12012,35928,83411,5830.432.860.16None
APS-I 27M28 yrCanada964del13/964del1321,2257377,5765,0470.020.090.043 yrMucosa, skin, nails, eyes, scalp
APS-I 28F31 yrCanada964del13/964del1322,32426,21425,0641,1780.910.780.03BirthMucosa, skin, nails, eyes, scalp
APS-I 29F16 yrCanadadelT253/R257X24,0992,26813,56315,8990.080.790.142 yrNails
APS-I 30M19 yrCanadadelT253/R257X21,4421534481,2640.030.040.243 yrMucosa, skin, nails
APS-I 31F5 yrCanada964del13/964del1322,79826,12028,66719,9541.99>31.836 moMucosa
APS-I 32F31 yrUK964del13/964del1314,7182,15527,22214,358NDNDND15 yrMouth, nails
APS-I 33F7 yrUK964del13/964del1315,33225,64826,35822,808NDNDND4 yrMouth, nails, scalp
  • Sex; age; country of origin; AIRE genotype; levels of auto-Abs against IFN-α, IL-17A, IL-17F, and IL-22 measured by Luminex (FI values) or classical ELISA (OD values); and candidiasis phenotype are shown.