Survey questionnaire: Health impacts and information needs in "long-COVID" : (Version 2)

Template for the Swedish national survey questionnaire directed to long-COVID / post-COVID sufferers in Swedish Facebook groups. The survey comprises questions on demographics, background factors, symptoms and changes over time, health impacts, information needs and practices, and validated scales for rating certain symptoms. The survey was produced for the research project CiLC-S - Crowdsourcing Long-COVID Sweden, and conducted in 2021. The survey is designed for anonymous participation and open digital methods distribution through social media and web channels.Part of the project Crowdsourcing LongCovid - Sweden (CiLC-S): https://www.hb.se/en/research/research-portal/projects/cilc-s---crowdsourcing-long-covid-sweden/</p

Severe combined immunodeficiency (SCID) presenting in childhood, with agammaglobulinemia, associated with novel compound heterozygous mutations in DCLRE1C

Severe combined immunodeficiency (SCID) can be caused by deleterious mutations in DCLRE1C, leading to deficient non-homologous end joining by compromising the function of the Artemis protein. This impairs the process of V(D)J recombination of the T- and B-cell receptors and typically results in radiosensitive T-, B-, NK+ SCID presenting during the first months of life. We present a case of a 3-year-old girl with two novel compound heterozygous variants in DCLRE1C (c.58G>C and c.374A>C) that were associated with marked reduced numbers of peripheral T- and B-cells and undetectable total serum IgG. Despite the severe laboratory phenotype, the patient had a normal development, albeit failure to thrive (-2.5 to -3 SD), during her first years of life including day-care attendance at preschool for 1.5 years. After being diagnosed with pneumonia the clinical picture of SCID was recognized and the girl successfully underwent hematopoietic stem-cell transplantation

Case report : IKZF1-related early-onset CID is expected to be missed in TREC-based SCID screening but can be identified by determination of KREC levels

This report illustrates a case that would have been missed in the most common screening algorithms used worldwide in newborn screening (NBS) for severe combined immunodeficiency (SCID). Our patient presented with a clinical picture that suggested a severe inborn error of immunity (IEI). The 6-month-old baby had normal T-cell receptor excision circle (TREC) levels but no measurable level of kappa-deleting recombination excision circles (KRECs) in the NBS sample. A de novo IKZF1-mutation (c.476A&gt;G, p.Asn159Ser) was found. The clinical picture, immunologic workup, and genetic result were consistent with IKZF1-related combined immunodeficiency (CID). Our patient had symptomatic treatment and underwent allogeneic hematopoietic cell transplantation (HCT). IKZF1-related CID is a rare, serious, and early-onset disease; this case provides further insights into the phenotype, including KREC status

Crowdsourcing Long COVID Sweden (CiLC-S): Exploring Digital Methods and Voluntary Health Data for Research and Response in Social Crises

We describe in this extended abstract the emergent, multi-disciplinary research project CiLC-S – Crowdsourcing Long COVID Sweden. The information science related part of the project aims to explore i) information needs and strategies of persons afflicted by long term health problems after a COVID-19 infection, and ii) alternative digital methods for inclusive, safe and efficient data collection for research and social response in the COVID-19 pandemic. The purpose of this presentation is to introduce the project and share some early ethical and methodological experiences as a foundation for discussions of current and future possibilities for information science research to respond to individual and societal information needs in the COVID-19 pandemic and similar large-scale social crises through innovative research questions and data collection methods.Finansiär och Projektinformation : Tillhör forskningsprojekt "CiLC-S - Crowdsourcing LångtidsCovid Sverige" placerat vid Högskolan i Borås: https://www.hb.se/en/research/research-portal/projects/cilc-s---crowdsourcing-long-covid-sweden/Två forskargrupper aktuella: "KIR - Kunskapens infrastrukturer" samt "Digitala kulturer och informationspraktiker".</p

Characterization of PRF1, STX11 and UNC13D genotype-phenotype correlations in familial hemophagocytic lymphohistiocytosis

Familial hemophagocytic lymphohistiocytosis (FHL) is a rare autosomal recessive lethal condition characterized by fever, cytopenia, hepatosplenomegaly and hemophagocytosis. The hallmark of FHL is defect apoptosis triggering and lymphocyte cellular cytotoxicity. Thus far three disease-causing genes (PRF1, UNC13D, STX11) have been identified. We performed a genotype-phenotype study in a large, multi-ethnic cohort of 76 FHL patients originating from 65 unrelated families. Biallelic mutations in PRF1, UNC13D and STX11 were demonstrated in 13/74 (18%), 6/61 (10%) and 14/70 (20%) patients, respectively. In 27/60 (45%) patients analyzed for all three genes, no molecular diagnosis was established. STX11 mutations were most common in Turkish families (7/28, 25%), whereas in Middle East families, PRF1 mutations were most frequent (6/13, 46%). No biallelic mutation was identified in most families of Nordic origin (13/14, 93%). Patients carrying PRF1 mutations had higher risk of early onset (age < 6 months) compared to patients carrying STX11 mutations [adjusted odds ratio 8.23 (95% confidence interval [CI] = 1.20-56.40), P = 0.032]. Moreover, patients without identified mutations had increased risk of pathological cerebrospinal fluid (CSF) at diagnosis compared to patients with STX11 mutations [adjusted odds ratio 26.37 (CI = 1.90-366.82), P = 0.015]. These results indicate that the disease-causing mutations in FHL have different phenotypes with regard to ethnic origin, age at onset, and pathological CSF at diagnosis