Skip to Main Content
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/residenceAge (yr)SexAIRE variantsIFN-α, IFN-β, IFN-ω auto-Ab positivityPrior noninfectious clinical manifestationsPrior infectionsTreatments at the time of SARS-CoV-2 infection diagnosis
European/Italy 32 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 
European/Scotland 35 L323SfsX51/L323SfsX51 IFN-α and IFN-ω positive AI, HP, hypogonadism, gastroparesis None Hydrocortisone, fludrocortisone, estrogen, PTH 
European/USA 48 L323SfsX51/S64TfsX71 IFN-α, IFN-β, and IFN-ω positive AI, HP, HT, hypogonadism, Sjögren’s syndrome CMC Hydrocortisone, fludrocortisone, calcitriol, levothyroxine, HRT 
European/France 21 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 
European/Russia 34 NT IFN-ω positive AI, HP, enteropathy, nail dystrophy None Hydrocortisone, fludrocortisone, calcitriol 
European/Russia 13 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 
European/Russia 28 R257X/R257X IFN-α and IFN-ω positive AI, HP, enteropathy, alopecia, ptosis, enamel dysplasia CMC Hydrocortisone, fludrocortisone, calcitriol, fluconazole 
European/Russia 32 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 
European/Russia 14 R257X/R257X IFN-α and IFN-ω positive AI, DM, alopecia, enamel dysplasia, asthma CMC Hydrocortisone, fludrocortisone, fluconazole 
10 European/Russia 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 R257X/R257X IFN-α and IFN-ω positive HP CMC Alfacalcidol, fluconazole 
12 European/Russia 16 R257X/R257X IFN-α and IFN-ω positive enamel hypoplasia CMC Fluconazole 
13 European/Russia 20 R257X/R257X IFN-α and IFN-ω positive AI, HP, hypogonadism, HT CMC Hydrocortisone, fludrocortisone, alfacalcidol, levothyroxine, HRT 
14 European/France 31 NT IFN-α and IFN-ω positive AI, HP, hypogonadism, PA, hypopituitarism, achalasia CMC Hydrocortisone, levothyroxine 
15 European/USA 45 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 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 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 NT IFN-α and IFN-ω positive AI, HP, HT CMC Hydrocortisone, fludrocortisone, calcium, levothyroxine, tacrolimus 
19 European/England 18 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 NT IFN-α and IFN-ω positive HP, ovarian insufficiency, retinitis CMC Hydrocortisone, fludrocortisone, calcium, weekly methotrexate 
21 European/Russia 10 R257X/R257X IFN-α and IFN-ω positive AI, HP, urticarial eruption, enteropathy, retinitis CMC Hydrocortisone, fludrocortisone, calcium, calcitriol, fluconazole 
22 European/Russia 30 R257X/L323SfsX51 IFN-ω positive AI, HP, hypogonadism None Hydrocortisone, fludrocortisone, calcitriol 
Patient no.Ancestry/residenceAge (yr)SexAIRE variantsIFN-α, IFN-β, IFN-ω auto-Ab positivityPrior noninfectious clinical manifestationsPrior infectionsTreatments at the time of SARS-CoV-2 infection diagnosis
European/Italy 32 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 
European/Scotland 35 L323SfsX51/L323SfsX51 IFN-α and IFN-ω positive AI, HP, hypogonadism, gastroparesis None Hydrocortisone, fludrocortisone, estrogen, PTH 
European/USA 48 L323SfsX51/S64TfsX71 IFN-α, IFN-β, and IFN-ω positive AI, HP, HT, hypogonadism, Sjögren’s syndrome CMC Hydrocortisone, fludrocortisone, calcitriol, levothyroxine, HRT 
European/France 21 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 
European/Russia 34 NT IFN-ω positive AI, HP, enteropathy, nail dystrophy None Hydrocortisone, fludrocortisone, calcitriol 
European/Russia 13 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 
European/Russia 28 R257X/R257X IFN-α and IFN-ω positive AI, HP, enteropathy, alopecia, ptosis, enamel dysplasia CMC Hydrocortisone, fludrocortisone, calcitriol, fluconazole 
European/Russia 32 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 
European/Russia 14 R257X/R257X IFN-α and IFN-ω positive AI, DM, alopecia, enamel dysplasia, asthma CMC Hydrocortisone, fludrocortisone, fluconazole 
10 European/Russia 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 R257X/R257X IFN-α and IFN-ω positive HP CMC Alfacalcidol, fluconazole 
12 European/Russia 16 R257X/R257X IFN-α and IFN-ω positive enamel hypoplasia CMC Fluconazole 
13 European/Russia 20 R257X/R257X IFN-α and IFN-ω positive AI, HP, hypogonadism, HT CMC Hydrocortisone, fludrocortisone, alfacalcidol, levothyroxine, HRT 
14 European/France 31 NT IFN-α and IFN-ω positive AI, HP, hypogonadism, PA, hypopituitarism, achalasia CMC Hydrocortisone, levothyroxine 
15 European/USA 45 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 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 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 NT IFN-α and IFN-ω positive AI, HP, HT CMC Hydrocortisone, fludrocortisone, calcium, levothyroxine, tacrolimus 
19 European/England 18 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 NT IFN-α and IFN-ω positive HP, ovarian insufficiency, retinitis CMC Hydrocortisone, fludrocortisone, calcium, weekly methotrexate 
21 European/Russia 10 R257X/R257X IFN-α and IFN-ω positive AI, HP, urticarial eruption, enteropathy, retinitis CMC Hydrocortisone, fludrocortisone, calcium, calcitriol, fluconazole 
22 European/Russia 30 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.

Close Modal

or Create an Account

Close Modal
Close Modal