Case Report: Generalised Panniculitis as a Post-COVID-19 Presentation in Aicardi-Goutières Syndrome Treated With Ruxolitinib

Pararajasingam, Abirami; Bradley, Rachel E.; Evans, Jennifer; Lowe, Ashima; Goodwin, Richard; Jolles, Stephen

doi:10.3389/fped.2022.837568

Cited by 4 publications

(8 citation statements)

References 49 publications

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Section: Resultsmentioning

confidence: 99%

“…Autoinflammatory diseases were the fifth most-common IEIs in children who experienced COVID-19 (n = 67, 9.4%) [ 7 , 19 , 40 , 48 , 62 , 65 , 70 , 73 , 75 , 81 , 95 , 97 , 103 , 115 , 118 , 119 , 125 , 128 ] (see Additional file 2 : Table S3). Among them, 36 have familial Mediterranean fever (53.7% of all autoinflammatory diseases) [ 7 , 62 , 65 , 70 , 75 , 115 , 128 ], 4 have Blau syndrome (6%) [ 62 , 125 ], 3 have Aicardi-Goutières syndrome (4.5%) [ 97 , 103 , 118 ], 3 have familial cold autoinflammatory syndromes 1 (4.5%) [ 65 , 128 ], 2 have ADA2 deficiency (3%) [ 73 , 125 ], 2 have NLRP1 deficiency (3%) [ 19 , 62 ], 2 have TNF receptor-associated periodic syndrome (%) [ 81 , 125 ], 2 have hyperpigmentation hypertrichosis, histiocytosis-lymphadenopathy plus syndrome SLC29A3 mutation (3%) [ 119 , 125 ], and 2 have RNASEH2B deficiency (3%) [ 95 ]. The remaining 11 patients have familial cold autoinflammatory syndrome 4 (n = 1) [ 81 ]; deficiency of the interleukin 1 receptor antagonist (n = 1) [ 48 ]; pyogenic sterile arthritis, pyoderma gangrenosum, acne (PAPA) syndrome, hyperzincemia and hypercalprotectinemia (n = 1) [ 62 ]; mevalonate kinase deficiency (n = 1) [ 81 ]; SAMHD1 deficiency (n = 1) [ 95 ]; A20 deficiency (n = 1) [ 118 ]; Majeed syndrome (n = 1) [ 125 ]; STING-like disease (n = 1) [ 125 ]; CARD14 mediated psoriasis (n = 1) [ 125 ]; and unspecified autoinflammatory diseases (n =...…”

Section: Resultsmentioning

confidence: 99%

“…For patients with autoinflammatory diseases who acquired SARS-CoV-2, the median interquartile range (IQR) age was 108 months [78 to 168], with a male predominance [n = 32, 47.8%] [ 7 , 19 , 40 , 62 , 65 , 70 , 75 , 95 , 115 , 125 , 128 ], and majority of the patients belonged to White (Caucasian) (n = 50, 74.6%) [ 7 , 62 , 70 , 73 , 75 , 81 , 95 , 97 , 115 , 118 , 128 ], Hispanic (n = 6, 8.9%) [ 40 , 65 , 95 , 125 ] and Black (n = 5, 7.5%) [ 125 ] ethnicity. In those autoinflammatory diseases patients, few studies reported on specific allele changes (n = 4, 6%) [ 62 , 103 , 125 , 128 ]. Reported modes of inheritance for the autoinflammatory diseases in children were autosomal recessive (n = 50, 74.6%) [ 7 , 19 , 48 , 62 , 65 , 70 , 73 , 75 , 81 , 95 , 103 , 115 , 119 , 125 , 128 ], or autosomal dominant (n = 13, 19.4%) [ 62 , 65 , 81 , 118 , 125 , 128 ], however, mode of inheritance in these autoinflammatory diseases cases was unknown in a few percentage of patients (n = 4, 6%) [ 19 , 40 , 97 , 118 ].…”

Section: Resultsmentioning

confidence: 99%

“…In those autoinflammatory diseases patients, few studies reported on specific allele changes (n = 4, 6%) [ 62 , 103 , 125 , 128 ]. Reported modes of inheritance for the autoinflammatory diseases in children were autosomal recessive (n = 50, 74.6%) [ 7 , 19 , 48 , 62 , 65 , 70 , 73 , 75 , 81 , 95 , 103 , 115 , 119 , 125 , 128 ], or autosomal dominant (n = 13, 19.4%) [ 62 , 65 , 81 , 118 , 125 , 128 ], however, mode of inheritance in these autoinflammatory diseases cases was unknown in a few percentage of patients (n = 4, 6%) [ 19 , 40 , 97 , 118 ]. COVID-19 in children with autoinflammatory diseases was asymptomatic (12/67 = 17.9%) [ 7 , 65 , 70 , 75 , 95 , 103 ], mild (35/67 = 52.2%) [ 40 , 65 , 73 , 75 , 81 , 97 , 115 , 119 , 128 ], moderate (2/67 = 3%) [ 81 , 115 ] or severe (3/67 = 4.5%) [ 19 , 48 ].…”

Section: Resultsmentioning

confidence: 99%

“…Reported modes of inheritance for the autoinflammatory diseases in children were autosomal recessive (n = 50, 74.6%) [ 7 , 19 , 48 , 62 , 65 , 70 , 73 , 75 , 81 , 95 , 103 , 115 , 119 , 125 , 128 ], or autosomal dominant (n = 13, 19.4%) [ 62 , 65 , 81 , 118 , 125 , 128 ], however, mode of inheritance in these autoinflammatory diseases cases was unknown in a few percentage of patients (n = 4, 6%) [ 19 , 40 , 97 , 118 ]. COVID-19 in children with autoinflammatory diseases was asymptomatic (12/67 = 17.9%) [ 7 , 65 , 70 , 75 , 95 , 103 ], mild (35/67 = 52.2%) [ 40 , 65 , 73 , 75 , 81 , 97 , 115 , 119 , 128 ], moderate (2/67 = 3%) [ 81 , 115 ] or severe (3/67 = 4.5%) [ 19 , 48 ]. Most children with autoinflammatory diseases did not get MIS-C due to COVID-19 (47/67, 70.1%) [ 7 , 19 , 40 , 65 , 70 , 75 , 81 , 95 , 97 , 103 , 119 , 128 ], however, some children with autoinflammatory diseases were reported to experience MIS-C (18/67, 26.9%) [ 48 , 62 , 73 , 115 ...…”

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%

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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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2022

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Aicardi-Goutières syndrome type 6: report of ADAR variant and clinical outcome after ruxolitinib treatment in the neonatal period

Gabaldon-Albero,

Martin-Grau,

Marti-Masanet

et al. 2024

Pediatr Rheumatol

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Background Aicardi-Goutières Syndrome is a monogenic type 1 interferonopathy with infantile onset, characterized by a variable degree of neurological damage. Approximately 7% of Aicardi-Goutières Syndrome cases are caused by pathogenic variants in the ADAR gene and are classified as Aicardi-Goutières Syndrome type 6. Here, we present a new homozygous pathogenic variant in the ADAR gene. Currently, Janus Kinase inhibitors have been proposed to treat selected interferonopathies such as Aicardi-Goutières Syndrome, although limited information is available on its use and results in the neonatal presentation of this disease. Case presentation We present two siblings, a male neonate with congenital petechial rash, severe thrombopenia and generalized hypotonia and his deceased sister who had normal development until 5 months of age, when she suffered acute encephalopathy. We describe the clinical course, complementary examinations and follow-up with early treatment of the newborn with ruxolitinib. The homozygous variant c.2908G > A (p.Ala970Thr) in the ADAR gene was found in both siblings, parents were heterozygous carriers. Conclusions The homozygous variant c.2908G > A (p.Ala970Thr) in the ADAR gene causes Aicardi-Goutières Syndrome type 6. Intrafamilial phenotypic spectrum of the disease varies among individuals with the same pathogenic variant. Early initiation of ruxolitinib improved systemic signs but did not prevent the progression of neurological disease.

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Case Report: Generalised Panniculitis as a Post-COVID-19 Presentation in Aicardi-Goutières Syndrome Treated With Ruxolitinib

Cited by 4 publications

References 49 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

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Aicardi-Goutières syndrome type 6: report of ADAR variant and clinical outcome after ruxolitinib treatment in the neonatal period

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