Diagnosis of APS-1 in Two Siblings Following Life-Threatening COVID-19 Pneumonia

Impact of SARS-CoV-2 infection and COVID-19 on patients with inborn errors of immunity

“…Over the past 2 years, outcomes of SARS-CoV-2 infection have been reported for ∼1330 individuals with IEI. These studies range from reports of single cases or small numbers of patients 42 , 43 , 44 , 45 , 46 , 47 , 48 , 49 , 50 , 51 , 52 , 53 , 54 , 55 , 56 , 57 , 58 , 59 , 60 , 61 , 62 , 63 , 64 , 65 , 66 , 67 , 68 , 69 , 70 , 71 , 72 , 73 , 74 , 75 , 76 , 77 , 78 , 79 , 80 , 81 , 82 , 83 , 84 , 85 , 86 , 87 , 88 to cohort studies from Iran, 89 , 90 , 91 Turkey, 92 , 93 , 94 Brazil, 95 , 96 Israel, 97 Italy, 98 , 99 , 100 , 101 Spain, 102 the United Kingdom, 15 , 103 , 104 Mexico, 105 Denmark, 106 , 107 Poland, 108 …”

“…First, the age of affected IEI patients was markedly younger than the general population (∼28 years vs ∼50-plus years). 16 , 44 , 79 , 81 , 84 , 89 , 91 , 93 , 94 , 95 , 100 , 102 , 103 , 104 , 108 , 109 , 110 , 115 There were also differences in age at infection for different IEI. Thus, SARS-CoV-2–infected patients with CVID, periodic fevers, or complement defects were generally older, and patients with defects in innate immune cell signaling due to pathogenic variants in IRAK4, MYD88, or IFNAR1 / IFNAR2 were generally younger, than the entire cohort of published IEI patients ( Fig 1 , A ).…”

“… 15 , 16 , 44 , 81 , 91 , 92 , 94 , 102 , 105 , 109 , 111 , 115 Third, duration of disease—likely a result of prolonged viremia and virus shedding—was longer (1-6 months vs 1-2 weeks), and the likelihood of reinfection was greater, than observed for the general population. 46 , 55 , 59 , 77 , 83 , 84 , 92 , 99 , 100 , 104 , 106 , 107 , 116 Thus, COVID-19 generally manifests clinically at a younger age, runs a more protracted course, and has a more severe outcome requiring hospitalization and/or ICU admission in many individuals with IEI compared to the epidemiology of SARS-CoV-2 infection in the general population ( Fig 2 ). 16 , 44 This is reminiscent of findings for SARS-CoV-2 infection in patients with cystic fibrosis.…”

Diagnostic Accuracy of Methods for Detection of Antibodies against Type I Interferons in Patients with Endocrine Disorders

“…Due to the severity of COVID-19 and their medical history, APS-1 was suspected and the patients underwent appropriate molecular testing. In addition to a mutation in the AIRE gene, the patients were found to carry auto-Abs against IFN-I [12]. Currently, there are also suggestions about the possible role of autoantibodies against IFN-I in other severe viral and malignant diseases, especially in the elderly [13].…”

Diagnostic Accuracy of Methods for Detection of Antibodies against Type I Interferons in Patients with Endocrine Disorders

“…MDPI and/or the editor(s) disclaim responsibility for any injury to people or property resulting from any ideas, methods, instructions, or products referred to in the content. AIRE gene, the patients were found to carry auto-Abs against IFN-I [12]. Thus, the longstanding opinion that there is no increased susceptibility to viral infections in patients with APS-1, despite the presence of auto-Abs against IFN-I [13], is refuted.…”