Host Defenses to Viruses: Lessons from Inborn Errors of Immunity

Leonardi, Lucia; Rivalta, Beatrice; Leone, F.; Cancrini, Caterina; Caffarelli, Carlo; Marseglia, Gian Luigi; Cardinale, Fabio

doi:10.3390/medicina58020248

Cited by 6 publications

(3 citation statements)

References 44 publications

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“…However, contrary to former reports [3,21], bacterial infections were also predominantly detected in CID patients. Viral infections tended to be higher in patients with immune dysregulation, which could be explained as a result of the susceptibility to viruses in distinct gene mutations of this category [26].…”

Section: Discussionmentioning

confidence: 96%

Autoimmune versus Non-autoimmune Cutaneous Features in Monogenic Patients with Inborn Errors of Immunity

Sharifinejad

Azizi

Rasouli

et al. 2023

Biology

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Cutaneous manifestations are one of the most common presentations among patients with inborn errors of immunity (IEI). These skin manifestations are often among the first presenting features in the majority of patients preceding the IEI diagnosis. We studied 521 available monogenic patients with IEI listed in the Iranian IEI registry up to November 2022. We extracted each patient’s demographic information, detailed clinical history of cutaneous manifestations, and immunologic evaluations. The patients were then categorized and compared based on their phenotypical classifications provided by the International Union of Immunological Societies. Most patients were categorized into syndromic combined immunodeficiency (25.1%), non-syndromic combined immunodeficiency (24.4%), predominantly antibody deficiency (20.7%), and diseases of immune dysregulation (20.5%). In total, 227 patients developed skin manifestations at a median (IQR) age of 2.0 (0.5–5.2) years; a total of 66 (40.7%) of these patients initially presented with these manifestations. Patients with cutaneous involvement were generally older at the time of diagnosis [5.0 (1.6–8.0) vs. 3.0 (1.0–7.0) years; p = 0.022]. Consanguinity was more common among patients who developed skin disorders (81.4% vs. 65.2%, p < 0.001). The overall skin infection rate and the type of dominant pathogens were significantly different among the IEI patients in different phenotypical classifications (p < 0.001). Atopic presentation, including urticaria, was highly prevalent among patients with congenital defects of phagocytes (p = 0.020). The frequency of eczema was also significantly higher among cases with both syndromic and non-syndromic combined immunodeficiency (p = 0.009). In contrast, autoimmune cutaneous manifestations, including alopecia and psoriasis, were most common in patients with immune dysregulation (p = 0.001) and defects in intrinsic or innate immunity (p = 0.031), respectively. The presence of autoimmune cutaneous complications significantly improved the survival rate of IEI patients (p = 0.21). In conclusion, cutaneous manifestations were observed in nearly 44% of Iranian patients with monogenic IEI. A considerable number of patients with cutaneous involvements developed these disorders as their first manifestation of the disease, which was particularly noticeable in patients with non-syndromic combined immunodeficiency and phagocytic defects. The neglected skin disorders in IEI patients might delay diagnosis, which is generally established within a 3-year interval from the development of skin-related problems. Cutaneous disorders, especially autoimmune features, might indicate a mild prognosis in IEI patients.

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Section: Discussionmentioning

confidence: 96%

Autoimmune versus Non-autoimmune Cutaneous Features in Monogenic Patients with Inborn Errors of Immunity

Sharifinejad

Azizi

Rasouli

et al. 2023

Biology

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“…Recent studies underline that critical illness or even death among children with COVID-19 is most commonly seen in patients with comorbidities (respiratory, cardiovascular disorders, obesity, neurological or oncological disease) and the presence of co-infections [3][4][5]. In addition, age is an important risk factor for disease severity-premature babies, infants and adolescents are at greater risk for poor COVID-19 outcomes [3,5,6].…”

Section: Introductionmentioning

confidence: 99%

“…The course of any viral infection as well as COVID-19 will depend on the characteristics of the pathogen (its structure, viral load and the site of penetration into the host's cells), the type of host immune response and transmission environment, along with its influencing factors [6,7]. It must be mentioned that external factors (stress, sleep, nutrition and microbiota type) can undergo corrections, but the host genetic factor cannot be corrected or changed, and has a very significant impact on the course of the viral infection [6].…”

Section: Introductionmentioning

confidence: 99%

Genes Polymorphisms and Their Association with COVID-19 Severity in Children

Kozak,

Pavlyshyn,

Kamyshnyi

et al. 2023

Preprint

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Coronavirus disease (COVID-19) and its outcomes remain one of the most challenging problems today. COVID-19 in children could be asymptomatic but can result in a fatal outcome, therefore, prediction of the disease severity is important. The goal was to investigate the human genetic factors that could be associated with COVID-19 severity in children. Single nucleotide polymor-phisms of the following genes were studied: ACE2 (rs2074192), IFNAR2 (rs2236757), TYK2 (rs2304256), OAS1 (rs10774671), OAS3 (rs10735079), CD40 (rs4813003), FCGR2A (rs1801274) and CASP3 (rs113420705). In the case-control study were 30 children with mild or moderate course of the disease; 30 with severe COVID-19 symptoms and multisystem inflammatory syndrome in children (MIS -C) and 15 healthy who did not have COVID-19 infection (PCR negative, Ig G negative). The study revealed that ACE2 rs2074192 (allele T), IFNAR2 rs2236757 (allele A), OAS1 rs10774671 (allele A), CD40 rs4813003 (allele C), CASP3 rs113420705 (allele C) and male sex contribute to severe course COVID-19 infection, and MIS-C in 85.6% of cases. The World Health Organization reported new COVID-19 variants may cause previously unseen symptoms in chil-dren. Although the study has limitation due to cohort size, the findings can help provide a better understanding of SARS-CoV-2 infection and proactive pediatric patient management.

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