Table 2.
Autoantigens in APECED patients and their associated disease manifestation.
| Autoantigen | Tissue of origin | Associated clinical manifestation |
|---|---|---|
| IFN-ω | Cytokine | APECED, Thymoma, Myasthenia gravis, RAG deficiency |
| IFN-α | Cytokine | APECED (protection from type 1 diabetes?), Thymoma, Myasthenia gravis, RAG deficiency |
| IFN-β | Cytokine | Unclear |
| IFN-λ | Cytokine | Unclear |
| IL-6 | Cytokine | Unclear |
| IL-17A | Cytokine | Chronic mucocutaneous candidiasis |
| IL-17F | Cytokine | Chronic mucocutaneous candidiasis |
| IL-22 | Cytokine | Chronic mucocutaneous candidiasis |
| NACHT leucine-rich-repeat protein 5 (NALP5) |
Parathyroid, ovary, breast, testis | Hypoparathyroidism |
| Calcium-sensing receptor (CaSR) | Parathyroid, pancreas, kidney | Hypoparathyroidism |
| 21-hydroxylase (CYP21A2) | Adrenal gland | Primary adrenal insufficiency |
| 17-α-hydroxylase (CYP17A1) | Adrenal gland | Primary adrenal insufficiency, ovarian failure |
| Thyroglobulin (TG) | Thyroid | Hypothyroidism |
| Thyroid peroxidase (TPO) | Thyroid | Hypothyroidism |
| Islet antigen-2 (IA-2) | Pancreas | Type I diabetes |
| Potassium channel-regulating protein (KCNRG) |
Lung, cervix | Autoimmune pneumonitis |
| Bactericidal/permeability-increasing fold- containing B1 (BPIFB1) |
Lung, stomach, esophagus, cervix | Autoimmune pneumonitis |
| Aromatic L-amino acid decarboxylase (AADC) |
Kidney, intestine, brain, liver, pancreas |
Autoimmune hepatitis, vitiligo |
| Cytochrome P450 1A2 (CYP1A2) | Liver | Autoimmune hepatitis |
| CYP2A6 | Liver | Autoimmune hepatitis |
| Tryptophan hydroxylase (TPH) | Multiple | Intestinal dysfunction, autoimmune hepatitis, autoimmune gastritis |
| Hydrogen-Potassium ATPase | Stomach | Autoimmune gastritis |
| Intrinsic factor | Stomach | Pernicious anemia |
| Glutamic acid decarboxylase (GAD65) | Pancreas, brain | Intestinal dysfunction, vitiligo |
| Histidine decarboxylase (HDC) | Brain, stomach, lung | Intestinal dysfunction |
| Defensin, alpha 5 (DEFA5) | Paneth cells | Intestinal dysfunction |
| Side chain cleavage enzyme (CYP11A1) | Adrenal, ovary, testis | Primary adrenal insufficiency, ovarian failure, testicular failure |
| Transglutaminase 4 | Prostate | Prostatitis (male infertility) |
| Testis-specific gene 10 protein (TSGA10) | Testis, brain | Unclear |
| Tudor domain containing protein 6 (TDRD6) | Testis, brain | Hypopituitarism (growth hormone deficiency) |
| Melanoma antigen family B 2 (MAGEB2) | Testis, female germ cells | Unclear |
| Protein disulfide isomerase-like testis (PDILT) |
Testis | Unclear |
| Tyrosine hydroxylase (TH) | Brain, adrenal | Alopecia, enamel hypoplasia |
| SOX9/SOX10 | Nervous system, breast | Vitiligo |
| Myelin protein 0 | Nervous system | Neuropathy |
| Interphotoreceptor retinoid‐binding protein | Retina | Retinitis pigmentosa |