Volume 8 • Number 2 • June 2021
Commentary
Original Article
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Introduction: The impact of SARS-CoV-2 infections in children has generally been described as relatively benign. However, since April 2020, there have been reports of a new multisystem inflammatory illness affecting children and related to COVID-19 termed multisystem inflammatory syndrome in children (MIS-C).Aim: To describe 3 cases of children diagnosed with MIS-C and discuss the disease spectrum.Methods: We collected and reviewed data from 3 cases diagnosed with MIS-C admitted to our pediatric ward between October 2020 and January 2021.Discussion: MIS-C is a newly described disease that spans a spectrum of phenotypes and severity, and while it shares clinical similarities with Kawasaki disease, it has a unique set of epidemiological, laboratory, and prognostic characteristics. In this review, we hope to add to the understanding of this new entity.Statement of Novelty: This report discusses 3 cases of MIS-C and elaborates on the spectrum and immunology of this entity. Our cases are unique in their relatively wide spectrum and variability. We hope our own experience with MIS-C adds to the accumulating knowledge and understanding of this emerging disease.
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Background: Coronavirus disease 2019 (Covid-19) remains a pandemic with multiple challenges to confirm patient infectivity: lack of sufficient tests, accurate results, validated quality, and timeliness of results. We hypothesize that a rapid 15-minute Point-Of-Care serological test to evaluate past infection complements diagnostic testing for Covid-19 and significantly enhances testing availability.Method: A three arm observational study at Sharp Healthcare, San Diego, California was conducted using the Clungene® lateral flow immunoassay (LFI) and compared with the Cobas® Roche real-time polymerase chain reaction (RT-PCR) results. Arm 1: Thirty-five (35) subjects with confirmed Covid-19 using RT-PCR were tested twice: prior to 14 days following symptom onset and once between 12 and 70 days. Arm 2: Thirty (30) subjects with confirmed Covid-19 using RT-PCR were tested 12-70 days post symptom onset. Arm 3: Thirty (30) subjects with a negative RT-PCR for Covid-19 were tested 1–10 days following the RT-PCR test date.Results: Specificity of confirmed negative Covid-19 by RT-PCR was 100% (95% CI, 88.4%–100.0%); meaning there was 100% negative positive agreement between the RT-PCR and the Clungene® serological test results. Covid-19 subjects tested prior to day 7 of symptom onset were antibody negative. In subjects 7–12 days following symptom onset with a confirmed positive Covid-19 by RT-PCR, the combined sensitivity of IgM and IgG was 58.6% (95% CI, 38.9%–76.5%). In subjects 13–70 days following symptom onset with a confirmed positive Covid-19 by RT-PCR, the combined sensitivity of IgM and IgG was 90.5% (95% CI, 80.4%–96.4%).Conclusion: The Clungene® lateral flow immunoassay (LFI) is a useful tool to confirm individuals with an adaptive immune response to severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) indicating past infection. Providing Point-Of-Care results within 15 minutes without any laboratory instrumentation or specialized software has an added value of increasing test availability to patients who have been symptomatic for more than 1 week to confirm past infection. Performance characteristics are optimal after 13 days with a sensitivity and specificity of 90% and 100%, respectively.Statement of novelty: Formal controlled clinical studies of Covid-19 antibody tests have been limited. This study demonstrates the utility of the 15 minute rapid Clungene® test and the potential for expanded use where Covid-19 RT-PCR testing and vaccination is limited.
Novel Mutation
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Background: Chronic mucocutaneous Candidiasis (CMCC) is characterized by recurrent or persistent fungal infections of the skin, nails, and oral and genital mucosae. There are several underlying genetic causes for CMCC, with mutations in Signal Transducer and Activator of Transcription-1 (STAT1) accounting for the majority of cases.Aim: To broaden the genotypic spectrum of CMCC caused by STAT1 mutations.Methods: We evaluated a young patient and her family with CMCC. Immune workup and targeted gene sequencing were performed.Results: The proband presented at 7 years of age with persistent oral thrush. Immune evaluation revealed her cellular and humoral immunity to be within normal range. Given that her family history was significant for oral lesions in father, siblings, and paternal family members, STAT1 gene sequencing was performed. A novel heterozygous missense c.G799A, predicting a p. Ala267Thr amino acid change within the coiled-coil domain, was identified in our patient and 3 of her family members.Conclusion: Gain-of-function mutations in STAT1 have been associated with a variety of phenotypes, ranging from isolated CMCC to severe fatal combined immunodeficiency, mycobacterial infections, autoimmune disorders, as well as malignancy and aneurysms. Here, we describe a novel STAT1 mutation, c.G799A, resulting in a very mild phenotype of isolated CMCC in 4 members of one kindred.Statement of novelty: We describe 4 patients with a mild phenotype of CMCC caused by a novel STAT1 heterozygous mutation.
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March 2024
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December 2023
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