Pediatric with Gaucher disease and Covid-19: Case report of uncommon manifestation of Covid-19 in chest Ct

Khalili, Mitra; Baeis, Mehdi Gholamzadeh; Saneifard, Hedyeh; Ghanaie, Roxana Mansour; Shamsian, Bibi Shahin

doi:10.1016/j.visj.2021.100966

Cited by 4 publications

(11 citation statements)

References 7 publications

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Section: Resultsmentioning

confidence: 99%

“…Phagocytic diseases were the sixth most-common IEIs in children who experienced COVID-19 (n = 54, 7.6%) [ 19 , 40 , 43 , 46 , 48 , 52 , 53 , 61 – 63 , 65 , 74 , 77 , 81 , 90 , 92 , 95 , 98 , 101 , 107 , 117 , 124 , 127 ] (see Additional file 2 : Table S3). Among them, 26 have chronic granulomatous disease (48.1% of all phagocytic diseases) [ 40 , 43 , 46 , 48 , 53 , 62 , 65 , 74 , 81 , 90 , 92 , 95 , 98 , 124 ], 8 have Shwachman-Diamond syndromes (14.8%) [ 61 , 95 , 101 ], 6 have HAX1 deficiencies (11.1%) [ 74 , 77 , 124 ], 2 have Glycogen storage diseases type 1b (3.7%) [ 62 ], and 2 have Elastase deficiency (3.7%) [ 81 , 127 ]. The remaining 10 patients have JAGN1 deficiency (n = 1) [ 117 ]; poikiloderma with neutropenia (n = 1) [ 107 ]; cystic fibrosis (n = 1) [ 19 ]; leukocyte adhesion deficiency type 3 (n = 1) [ 65 ]; GATA2 deficiency (n = 1) [ 95 ]; undefined leukopenia (n = 1) [ 46 ]; and unspecified phagocytic diseases (n = 4) [ 52 , 63 , 101 , 124 ].…”

Section: Resultsmentioning

confidence: 99%

“…The remaining 10 patients have JAGN1 deficiency (n = 1) [ 117 ]; poikiloderma with neutropenia (n = 1) [ 107 ]; cystic fibrosis (n = 1) [ 19 ]; leukocyte adhesion deficiency type 3 (n = 1) [ 65 ]; GATA2 deficiency (n = 1) [ 95 ]; undefined leukopenia (n = 1) [ 46 ]; and unspecified phagocytic diseases (n = 4) [ 52 , 63 , 101 , 124 ]. The most frequent main genetic causes of phagocytic diseases in children infected with SARS-CoV-2 were CYBB (n = 9) [ 40 , 43 , 46 , 90 , 92 , 95 ], HAX1 deficiency (n = 6) [ 74 , 77 , 124 ], SDBS deficiency (n = 5) [ 61 , 101 ], NCF1 (n = 3) [ 62 , 92 ], ELANE (n = 2) [ 81 , 127 ], and SLC37A4 (n = 2) [ 62 ]. For patients with phagocytic diseases who acquired SARS-CoV-2, the median interquartile range (IQR) age was 96 months [22.5 to 180], with a male predominance [n = 26, 48.1%] [ 19 , 40 , 43 , 46 , 48 , 52 , 53 , 62 , 65 , 74 , 90 , 92 , 95 , 98 , 101 , 107 , 127 ], and majority of the patients belonged to White (Caucasian) (n = 28, 51.8%) [ 43 , 46 , 52 , 61 – 63 , 81 , 95 , 107 , 124 ], Persian (n = 11, 20.4%) [ 19 , 48 , 53 , 74 , 77 ,…”

Section: Resultsmentioning

confidence: 99%

“…The most frequent main genetic causes of phagocytic diseases in children infected with SARS-CoV-2 were CYBB (n = 9) [ 40 , 43 , 46 , 90 , 92 , 95 ], HAX1 deficiency (n = 6) [ 74 , 77 , 124 ], SDBS deficiency (n = 5) [ 61 , 101 ], NCF1 (n = 3) [ 62 , 92 ], ELANE (n = 2) [ 81 , 127 ], and SLC37A4 (n = 2) [ 62 ]. For patients with phagocytic diseases who acquired SARS-CoV-2, the median interquartile range (IQR) age was 96 months [22.5 to 180], with a male predominance [n = 26, 48.1%] [ 19 , 40 , 43 , 46 , 48 , 52 , 53 , 62 , 65 , 74 , 90 , 92 , 95 , 98 , 101 , 107 , 127 ], and majority of the patients belonged to White (Caucasian) (n = 28, 51.8%) [ 43 , 46 , 52 , 61 – 63 , 81 , 95 , 107 , 124 ], Persian (n = 11, 20.4%) [ 19 , 48 , 53 , 74 , 77 , 98 , 117 ] and Hispanic (n = 9, 16.7%) [ 40 , 65 , 95 ] ethnicity. In those phagocytic diseases patients, few studies reported on specific allele changes (n = 5, 9.2%) [ 62 , 77 , 107 , 124 , 127 ].…”

Section: Resultsmentioning

confidence: 99%

“…For patients with phagocytic diseases who acquired SARS-CoV-2, the median interquartile range (IQR) age was 96 months [22.5 to 180], with a male predominance [n = 26, 48.1%] [ 19 , 40 , 43 , 46 , 48 , 52 , 53 , 62 , 65 , 74 , 90 , 92 , 95 , 98 , 101 , 107 , 127 ], and majority of the patients belonged to White (Caucasian) (n = 28, 51.8%) [ 43 , 46 , 52 , 61 – 63 , 81 , 95 , 107 , 124 ], Persian (n = 11, 20.4%) [ 19 , 48 , 53 , 74 , 77 , 98 , 117 ] and Hispanic (n = 9, 16.7%) [ 40 , 65 , 95 ] ethnicity. In those phagocytic diseases patients, few studies reported on specific allele changes (n = 5, 9.2%) [ 62 , 77 , 107 , 124 , 127 ]. Reported modes of inheritance for the phagocytic diseases in children were autosomal recessive (n = 32, 59.2%) [ 19 , 53 , 61 , 62 , 65 , 74 , 77 , 81 , 92 , 101 , 107 , 117 , 124 ], X-linked (n = 12, 22.2%) [ 40 , 43 , 46 , 48 , 90 , 92 , 95 ] or autosomal dominant ...…”

Section: Resultsmentioning

confidence: 99%

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Severity of SARS-CoV-2 infection in children with inborn errors of immunity (primary immunodeficiencies): a systematic review

Alhumaid,

Al Mutared,

Al Alawi

et al. 2023

Allergy Asthma Clin Immunol

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Background Inborn errors of immunity (IEIs) are considered significant challenges for children with IEIs, their families, and their medical providers. Infections are the most common complication of IEIs and children can acquire coronavirus disease 2019 (COVID-19) even when protective measures are taken. Objectives To estimate the incidence of severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) infection in children with IEIs and analyse the demographic parameters, clinical characteristics and treatment outcomes in children with IEIs with COVID-19 illness. Methods For this systematic review, we searched ProQuest, Medline, Embase, PubMed, CINAHL, Wiley online library, Scopus and Nature through the Preferred Reporting Items for Systematic Reviews and Meta Analyses (PRISMA) guideline for studies on the development of COVID-19 in children with IEIs, published from December 1, 2019 to February 28, 2023, with English language restriction. Results Of the 1095 papers that were identified, 116 articles were included in the systematic review (73 case report, 38 cohort 4 case-series and 1 case–control studies). Studies involving 710 children with IEIs with confirmed COVID-19 were analyzed. Among all 710 IEIs pediatric cases who acquired SARS-CoV-2, some children were documented to be admitted to the intensive care unit (ICU) (n = 119, 16.8%), intubated and placed on mechanical ventilation (n = 87, 12.2%), suffered acute respiratory distress syndrome (n = 98, 13.8%) or died (n = 60, 8.4%). Overall, COVID-19 in children with different IEIs patents resulted in no or low severity of disease in more than 76% of all included cases (COVID-19 severity: asymptomatic = 105, mild = 351, or moderate = 88). The majority of children with IEIs received treatment for COVID-19 (n = 579, 81.5%). Multisystem inflammatory syndrome in children (MIS-C) due to COVID-19 in children with IEIs occurred in 103 (14.5%). Fatality in children with IEIs with COVID-19 was reported in any of the included IEIs categories for cellular and humoral immunodeficiencies (n = 19, 18.6%), immune dysregulatory diseases (n = 17, 17.9%), innate immunodeficiencies (n = 5, 10%), bone marrow failure (n = 1, 14.3%), complement deficiencies (n = 1, 9.1%), combined immunodeficiencies with associated or syndromic features (n = 7, 5.5%), phagocytic diseases (n = 3, 5.5%), autoinflammatory diseases (n = 2, 3%) and predominantly antibody deficiencies (n = 5, 2.5%). Mortality was COVID-19-related in a considerable number of children with IEIs (29/60, 48.3%). The highest ICU admission and fatality rates were observed in cases belonging to cellular and humoral immunodeficiencies (26.5% and 18.6%) and immune dysregulatory diseases (35.8% and 17.9%) groups, especially in children infected with SARS-CoV-2 who suffered severe combined immunodeficiency (28.6% and 23.8%), combined immunodeficiency (25% and 15%), familial hemophagocytic lymphohistiocytosis (40% and 20%), X-linked lymphoproliferative diseases-1 (75% and 75%) and X-linked lymphoproliferative diseases-2 (50% and 50%) compared to the other IEIs cases. Conclusion Children with IEIs infected with SARS-CoV-2 may experience higher rates of ICU admission and mortality in comparison with the immunocompetent pediatric populations. Underlying immune defects does seem to be independent risk factors for severe SARS-CoV-2 infection in children with IEIs, a number of children with SCID and CID were reported to have prolonged infections–though the number of patients is small–but especially immune dysregulation diseases (XLP1 and XLP2) and innate immunodeficiencies impairing type I interferon signalling (IFNAR1, IFNAR2 and TBK1).

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Section: Resultsmentioning

confidence: 99%

Section: Resultsmentioning

confidence: 99%

Section: Resultsmentioning

confidence: 99%

Section: Resultsmentioning

confidence: 99%

Section: Resultsmentioning

confidence: 99%

See 3 more Smart Citations

Severity of SARS-CoV-2 infection in children with inborn errors of immunity (primary immunodeficiencies): a systematic review

Alhumaid,

Al Mutared,

Al Alawi

et al. 2023

Allergy Asthma Clin Immunol

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The clinical spectrum of SARS-CoV-2 infection in Gaucher disease: Effect of both a pandemic and a rare disease that disrupts the immune system

Narayanan

Nair

Balwani

et al. 2022

Molecular Genetics and Metabolism

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Targeting the Complement–Sphingolipid System in COVID-19 and Gaucher Diseases: Evidence for a New Treatment Strategy

Trivedi

Magnusen

Rani

et al. 2022

IJMS

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Severe Acute Respiratory Syndrome Coronavirus-2 (SARS-CoV-2)-induced disease (COVID-19) and Gaucher disease (GD) exhibit upregulation of complement 5a (C5a) and its C5aR1 receptor, and excess synthesis of glycosphingolipids that lead to increased infiltration and activation of innate and adaptive immune cells, resulting in massive generation of pro-inflammatory cytokines, chemokines and growth factors. This C5a–C5aR1–glycosphingolipid pathway- induced pro-inflammatory environment causes the tissue damage in COVID-19 and GD. Strikingly, pharmaceutically targeting the C5a–C5aR1 axis or the glycosphingolipid synthesis pathway led to a reduction in glycosphingolipid synthesis and innate and adaptive immune inflammation, and protection from the tissue destruction in both COVID-19 and GD. These results reveal a common involvement of the complement and glycosphingolipid systems driving immune inflammation and tissue damage in COVID-19 and GD, respectively. It is therefore expected that combined targeting of the complement and sphingolipid pathways could ameliorate the tissue destruction, organ failure, and death in patients at high-risk of developing severe cases of COVID-19.

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Pediatric with Gaucher disease and Covid-19: Case report of uncommon manifestation of Covid-19 in chest Ct

Cited by 4 publications

References 7 publications

Severity of SARS-CoV-2 infection in children with inborn errors of immunity (primary immunodeficiencies): a systematic review

Severity of SARS-CoV-2 infection in children with inborn errors of immunity (primary immunodeficiencies): a systematic review

The clinical spectrum of SARS-CoV-2 infection in Gaucher disease: Effect of both a pandemic and a rare disease that disrupts the immune system

Targeting the Complement–Sphingolipid System in COVID-19 and Gaucher Diseases: Evidence for a New Treatment Strategy

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