Table 3.
List of the 67 significant genes differentially expressed comparing immune dysregulation, polyendocrinopathy, enteropathy, X-linked (IPEX) patients and their parents. Up-regulated genes in IPEX patients included relevant immune response-related genes; interleukin (IL)-8, IL-18, CD31 and interferon (IFN)-γ-receptor 1, while FcεR-I, signal transducer and activator of transcription-4 (STAT4), CD3δ, CD3ε and CD3ζ, CXCR4 and CCL5 were among the most down-regulated genes
| Gene activation* | |||||||
|---|---|---|---|---|---|---|---|
| Probe set | Gene symbol | Name | IPEX | Parents | Fold change | P-value | |
| 1 | 210354_at | IFN-G | IFN-γ | 40·08 | 106·06 | 0·38 | 0·0000008 |
| 2 | 205758_at | CD8A | CD8a molecule | 184·79 | 752·34 | 0·25 | 0·0000028 |
| 3 | 204655_at | CCL5 | Chemokine (C-C motif) L5 | 1187·55 | 3769·35 | 0·32 | 0·0000045 |
| 4 | 1405_i_at | CCL5 | Chemokine (C-C motif) L5 | 1092·18 | 3233·23 | 0·34 | 0·0000088 |
| 5 | 212501_at | CEBPB | CCAAT/enhancer binding protein (C/EBP), β | 5270·75 | 2930·74 | 1·8 | 0·0000092 |
| 6 | 203685_at | BCL2 | B cell CLL/lymphoma 2 | 109·71 | 302·31 | 0·36 | 0·0000102 |
| 7 | 214032_at | ZAP70 | ζ-chain (TCR)-associated protein kinase 70 kDa | 271·16 | 686·86 | 0·39 | 0·0000111 |
| 8 | 206118_at | STAT4 | Signal transducer and activator of transcription 4 | 280·86 | 720·5 | 0·39 | 0·0000267 |
| 9 | 211676_s_at | IFN-GR1 | IFN-γ receptor 1 | 1446·24 | 925·76 | 1·56 | 0·000039 |
| 10 | 212195_at | IL-6ST | IL-6 signal transducer (gp130, oncostatin M receptor) | 511·1 | 829·61 | 0·62 | 0·0000432 |
| 11 | 211734_s_at | FCER1A | Fc fragment of IgE, high affinity I, receptor for; α polypeptide | 122·17 | 381·85 | 0·32 | 0·0000574 |
| 12 | 211506_s_at | IL-8 | IL-8 | 1229·78 | 700·46 | 1·76 | 0·0000608 |
| 13 | 202741_at | PRKACB | Protein kinase, cAMP-dependent, catalytic, β | 590·06 | 1080·34 | 0·55 | 0·0000901 |
| 14 | 208488_s_at | CR1 | Complement component (3b/4b) receptor 1 (Knops blood group) | 471·89 | 178·43 | 2·64 | 0·000195 |
| 15 | 202426_s_at | RXRA | Retinoid X receptor, α | 243·78 | 148·31 | 1·64 | 0·0002419 |
| 16 | 32541_at | PPP3CC | Protein phosphatase 3 (formerly 2B), catalytic subunit, γ isoform | 169·9 | 279·14 | 0·61 | 0·0002587 |
| 17 | 210556_at | NFATC3 | Nuclear factor of activated T cells, cytoplasmic, calcineurin-dependent 3 | 235·76 | 406·52 | 0·58 | 0·0003062 |
| 18 | 207334_s_at | TGF-BR2 | Transforming growth factor, β receptor II (70/80 kDa) | 43·52 | 85·6 | 0·51 | 0·0003105 |
| 19 | 208637_x_at | ACTN1 | Actinin, α 1 | 335·43 | 201·62 | 1·66 | 0·0003203 |
| 20 | 214617_at | PRF1 | Perforin 1 (pore forming protein) | 1949·45 | 3816·41 | 0·51 | 0·0003764 |
| 21 | 205831_at | CD2 | CD2 molecule | ′435·7 | 1111·33 | 0·39 | 0·0003955 |
| 22 | 205798_at | IL7R | IL-7 receptor | 1083·05 | 3854·88 | 0·28 | 0·0004234 |
| 23 | 206170_at | ADRB2 | Adrenergic, β-2, receptor, surface | 71·89 | 135·33 | 0·53 | 0·0004319 |
| 24 | 201329_s_at | ETS2 | v-ets erythroblastosis virus E26 oncogene homologue 2 (avian) | 423·64 | 238·09 | 1·78 | 0·0005064 |
| 25 | 202859_x_at | IL8 | IL-8 | 3278·21 | 2057·88 | 1·59 | 0·000712 |
| 26 | 210031_at | CD247 | CD247 molecule | 939·33 | 1980·45 | 0·47 | 0·0007122 |
| 27 | 208981_at | PECAM1 | Platelet/endothelial cell adhesion molecule (CD31 antigen) | 1539·05 | 973·44 | 1·58 | 0·0007861 |
| 28 | 204790_at | SMAD7 | SMAD family member 7 | 43·78 | 119·01 | 0·37 | 0·0008775 |
| 29 | 204891_s_at | LCK | Lymphocyte-specific protein tyrosine kinase | 683·74 | 1624·99 | 0·42 | 0·0009013 |
| 30 | 215223_s_at | SOD2 | Superoxide dismutase 2, mitochondrial | 1776·67 | 883·36 | 2·01 | 0·0010719 |
| 31 | 202201_at | BLVRB | Biliverdin reductase B [flavin reductase (NADPH)] | 1247 | 718·53 | 1·74 | 0·0010769 |
| 32 | 206099_at | PRKCH | Protein kinase C, η | 210·75 | 419·15 | 0·5 | 0·0011349 |
| 33 | 205159_at | CSF2RB | CSF2 R, β (granulocyte-macrophage) | 1594·02 | 837·8 | 1·9 | 0·0012975 |
| 34 | 220034_at | IRAK3 | IL-1 receptor-associated kinase 3 | 233·17 | 134·12 | 1·74 | 0·0013425 |
| 35 | 208636_at | ACTN1 | Actinin, α 1 | 627·36 | 341·48 | 1·84 | 0·0014019 |
| 36 | 202742_s_at | PRKACB | Protein kinase, cAMP-dependent, catalytic, β | 294·34 | 510·06 | 0·58 | 0·0016042 |
| 37 | 212249_at | PIK3R1 | Phosphoinositide-3-kinase, regulatory subunit 1 (p85 α) | 299·47 | 539·65 | 0·55 | 0·0016352 |
| 38 | 204890_s_at | LCK | Lymphocyte-specific protein tyrosine kinase | 371·51 | 864·54 | 0·43 | 0·0016548 |
| 39 | 206244_at | CR1 | Complement component (3b/4b) receptor 1 (Knops blood group) | 243·02 | 105·49 | 2·3 | 0·0018088 |
| 40 | 202789_at | PLCG1 | Phospholipase C, γ 1 | 102·32 | 224·48 | 0·46 | 0·001989 |
| 41 | 210038_at | PRKCQ | Protein kinase C, θ | 266·17 | 666·04 | 0·4 | 0·0020766 |
| 42 | 207000_s_at | PPP3CC | Protein phosphatase 3 (formerly 2B), catalytic subunit, γ isoform | 159·99 | 280·98 | 0·57 | 0·0021735 |
| 43 | 211919_s_at | CXCR4 | Chemokine (CXC motif) receptor 4 | 2143·05 | 3372 | 0·64 | 0·0022819 |
| 44 | 203749_s_at | RARA | Retinoic acid receptor, α | 201·54 | 137·24 | 1·47 | 0·00261 |
| 45 | 206341_at | IL-2RA | IL-2 receptor, α | 26·57 | 47·78 | 0·56 | 0·0029684 |
| 46 | 218764_at | PRKCH | Protein kinase C, eta | 539·32 | 1044·76 | 0·52 | 0·0035346 |
| 47 | 206295_at | IL-18 | IL-18 (IFN-γ-inducing factor) | 101·68 | 67·22 | 1·51 | 0·0038569 |
| 48 | 203680_at | PRKAR2B | Protein kinase, cAMP-dependent, regulatory, type II, β | 279·27 | 182·61 | 1·53 | 0·0039945 |
| 49 | 209545_s_at | RIPK2 | Receptor-interacting serine-threonine kinase 2 | 725·53 | 520·11 | 1·39 | 0·0040329 |
| 50 | 205321_at | EIF2S3 | Eukaryotic translation initiation factor 2, subunit 3 γ, 52 kDa | 381·03 | 593·83 | 0·64 | 0·0042516 |
| 51 | 217028_at | CXCR4 | Chemokine (CXC motif) receptor 4 | 3897·23 | 5792·91 | 0·67 | 0·0047524 |
| 52 | 212239_at | PIK3R1 | Phosphoinositide-3-kinase, regulatory subunit 1 (p85 α) | 514·72 | 969·17 | 0·53 | 0·0053206 |
| 53 | 217281_x_at | IL-8 | IL-8 | 91·46 | 47·08 | 1·94 | 0·0053833 |
| 54 | 214732_at | SP1 | Sp1 transcription factor | 53·16 | 32·09 | 1·66 | 0·0055414 |
| 55 | 217552_x_at | CR1 | Complement component (3b/4b) receptor 1 (Knops blood group) | 755·77 | 221·14 | 3·42 | 0·0057036 |
| 56 | 210039_s_at | PRKCQ | Protein kinase C, theta | 163·02 | 344·84 | 0·47 | 0·0057336 |
| 57 | 216033_s_at | FYN | FYN oncogene related to SRC, FGR, YES | 869·01 | 1260·7 | 0·69 | 0·0059456 |
| 58 | 209201_x_at | CXCR4 | Chemokine (CXC motif) receptor 4 | 1645·65 | 2668·73 | 0·62 | 0·0059718 |
| 59 | 204731_at | TGF-BR3 | Transforming growth factor, β receptor III | 394·58 | 829·35 | 0·48 | 0·0060871 |
| 60 | 205456_at | CD3E | CD3e molecule, epsilon (CD3–TCR complex) | 293·32 | 722·44 | 0·41 | 0·0062648 |
| 61 | 210145_at | PLA2G4A | Phospholipase A2, group IVA (cytosolic, calcium-dependent) | 52·4 | 35·04 | 1·5 | 0·0067767 |
| 62 | 209615_s_at | PAK1 | p21/Cdc42/Rac1-activated kinase 1 (STE20 homologue, yeast) | 212·87 | 152·72 | 1·39 | 0·0067792 |
| 63 | 201328_at | ETS2 | v-ets erythroblastosis virus E26 oncogene homologue 2 (avian) | 414·19 | 220·44 | 1·88 | 0·0068566 |
| 64 | 204852_s_at | PTPN7 | Protein tyrosine phosphatase, non-receptor type 7 | 108·76 | 170·37 | 0·64 | 0·0069018 |
| 65 | 201017_at | EIF1AX | Eukaryotic translation initiation factor 1A, X-linked | 177·87 | 324·3 | 0·55 | 0·0069616 |
| 66 | 213539_at | CD3D | CD3d molecule, δ (CD3–TCR complex) | 700·22 | 1956·46 | 0·36 | 0·0080763 |
| 67 | 218284_at | SMAD3 | SMAD family member 3 | 148·87 | 215·06 | 0·69 | 0·0089997 |
*
Geometric mean of detected fluorescence. NAPDH: nicotinamide adenine dinucleotide phosphate; cAMP: cyclic adenosine-5′-monophosphate; TCR: T cell receptor.