Table 1. Baseline demographic, genetic, and clinical characteristics of the 22 APS-1 patients with SARS-CoV-2 infection included in this study.
| Patient no. | Ancestry/residence | Age (yr) | Sex | AIRE variants | IFN-α, IFN-β, IFN-ω auto-Ab positivity | Prior noninfectious clinical manifestations | Prior infections | Treatments at the time of SARS-CoV-2 infection diagnosis |
|---|---|---|---|---|---|---|---|---|
| 1 | European/Italy | 32 | F | R203X/R203X | IFN-α and IFN-ω positive | AI, HP, ectodermal dystrophy, hypogonadism PA, enteropathy | CMC | Hydrocortisone, fludrocortisone, calcium, iron, magnesium, vitamin B12, folic acid, cholecalciferol, PTH, HRT, mesalamine, pancreatic enzyme replacement therapy, rifaximin |
| 2 | European/Scotland | 35 | F | L323SfsX51/L323SfsX51 | IFN-α and IFN-ω positive | AI, HP, hypogonadism, gastroparesis | None | Hydrocortisone, fludrocortisone, estrogen, PTH |
| 3 | European/USA | 48 | F | L323SfsX51/S64TfsX71 | IFN-α, IFN-β, and IFN-ω positive | AI, HP, HT, hypogonadism, Sjögren’s syndrome | CMC | Hydrocortisone, fludrocortisone, calcitriol, levothyroxine, HRT |
| 4 | European/France | 21 | M | R257X/P539L | IFN-α and IFN-ω positive | AI, HP, enteropathy, DM, HT, asplenia, exocrine pancreatic insufficiency, myocarditis | CMC | Hydrocortisone, fludrocortisone, levothyroxine, insulin, fluconazole, trimethoprim/sulfamethoxazole, pancreatic enzymes, monthly IVIg |
| 5 | European/Russia | 34 | M | NT | IFN-ω positive | AI, HP, enteropathy, nail dystrophy | None | Hydrocortisone, fludrocortisone, calcitriol |
| 6 | European/Russia | 13 | F | R257X/R257X | NT | AI, HP, autoimmune hepatitis, enteropathy, pancreatitis, nephritis | CMC | Hydrocortisone, fludrocortisone, calcium, amlodipine, enalapril, rituximab (treatment initiation in October 2017 with re-dosing every 6 mo; last dose 8 mo prior to SARS-CoV-2 infection diagnosis), monthly IVIg |
| 7 | European/Russia | 28 | M | R257X/R257X | IFN-α and IFN-ω positive | AI, HP, enteropathy, alopecia, ptosis, enamel dysplasia | CMC | Hydrocortisone, fludrocortisone, calcitriol, fluconazole |
| 8 | European/Russia | 32 | F | R257X/R257X | IFN-α and IFN-ω positive | AI, HP, hypogonadism, enteropathy, autoimmune hepatitis, alopecia, vitiligo, asplenia, Sjögren’s syndrome, PA, deep vein thrombosis, ptosis, enamel dysplasia, cataract | CMC, pneumonia | Hydrocortisone, fludrocortisone, calcium carbonate, alfacalcidol, fluconazole, rivaroxaban |
| 9 | European/Russia | 14 | M | R257X/R257X | IFN-α and IFN-ω positive | AI, DM, alopecia, enamel dysplasia, asthma | CMC | Hydrocortisone, fludrocortisone, fluconazole |
| 10 | European/Russia | 8 | F | R257X/E298X | IFN-α and IFN-ω positive | AI, HP, enteropathy, alopecia, PA, autoimmune hepatitis, autoimmune encephalitis | CMC | Hydrocortisone, fludrocortisone, calcitriol, fluconazole, monthly IVIg |
| 11 | European/Russia | 28 | F | R257X/R257X | IFN-α and IFN-ω positive | HP | CMC | Alfacalcidol, fluconazole |
| 12 | European/Russia | 16 | M | R257X/R257X | IFN-α and IFN-ω positive | enamel hypoplasia | CMC | Fluconazole |
| 13 | European/Russia | 20 | F | R257X/R257X | IFN-α and IFN-ω positive | AI, HP, hypogonadism, HT | CMC | Hydrocortisone, fludrocortisone, alfacalcidol, levothyroxine, HRT |
| 14 | European/France | 31 | F | NT | IFN-α and IFN-ω positive | AI, HP, hypogonadism, PA, hypopituitarism, achalasia | CMC | Hydrocortisone, levothyroxine |
| 15 | European/USA | 45 | M | S64TfsX71/L323SfsX51 | IFN-α and IFN-ω positive | AI, HP, HT, end-stage renal disease, alopecia, PA, vitiligo, enteropathy | CMC | Hydrocortisone, fludrocortisone, calcium, ruxolitinib |
| 16 | European/France | 38 | F | NT | IFN-α and IFN-ω positive | AI, HP, myocarditis, PA, hypogonadism, cutaneous lupus | CMC, urinary tract infections | Hydrocortisone, fludrocortisone, PTH, iron, magnesium, 1-0-HRT, perindopril, vitamin C, posaconazole |
| 17 | European/Sweden | 8 | F | P538L/P538L | IFN-α and IFN-ω positive | AI, HP, urticarial eruption, vitiligo, lupus-like systemic inflammation | None | Hydrocortisone, fludrocortisone, alfacalcidol calcium, magnesium |
| 18 | European/France | 11 | M | NT | IFN-α and IFN-ω positive | AI, HP, HT | CMC | Hydrocortisone, fludrocortisone, calcium, levothyroxine, tacrolimus |
| 19 | European/England | 18 | M | c.242T>C/C.1265delC | IFN-α and IFN-ω positive | AI, HP, urticarial eruption, DM, alopecia, hypogonadism | CMC | Hydrocortisone, fludrocortisone, calcium |
| 20 | European/France | 15 | F | NT | IFN-α and IFN-ω positive | HP, ovarian insufficiency, retinitis | CMC | Hydrocortisone, fludrocortisone, calcium, weekly methotrexate |
| 21 | European/Russia | 10 | M | R257X/R257X | IFN-α and IFN-ω positive | AI, HP, urticarial eruption, enteropathy, retinitis | CMC | Hydrocortisone, fludrocortisone, calcium, calcitriol, fluconazole |
| 22 | European/Russia | 30 | F | R257X/L323SfsX51 | IFN-ω positive | AI, HP, hypogonadism | None | Hydrocortisone, fludrocortisone, calcitriol |
AI, adrenal insufficiency; DM, diabetes mellitus; F, female; HP, hypoparathyroidism; HRT, hormone replacement therapy; HT, hypothyroidism; M, male; NT, not tested; PA, pernicious anemia; PTH, parathyroid hormone.