Inborn errors of immunity are associated with increased COVID-19-related hospitalization and intensive care compared to the general population.

Background: It is thought that patients with inborn errors of immunity (IEI) are more susceptible to severe coronavirus disease 2019 (COVID-19) than the general population, but a quantification of this potential risk is largely missing.

Objective: We assessed the impact of COVID-19 on patients with IEI.

Methods: A nationwide cohort study was performed to estimate the relative risk (RR) for hospitalization, intensive care, and death within 30 days after a positive severe acute respiratory syndrome coronavirus 2 test result in an IEI population (n = 2392) compared to the general population (n = 8,270,705) using data from Swedish national registries.

Risk of COVID-19 hospitalisation by HIV-status and SARS-CoV-2 vaccination status during pre- and post-Omicron era in a national register-based cohort study in Sweden.

Background: Data on the outcomes of COVID-19 in people living with HIV (PLHIV), specifically in relation to vaccination status, are lacking during the Omicron era.

Methods: This nationwide registry-based study included all resident in Sweden ≥18 years with a positive SARS-CoV-2 PCR test during January 2021-February 2023. We estimated adjusted odds ratios (adjOR) for COVID-19 hospitalisation and severe COVID-19 (ICU admission and 90-day mortality), categorised by SARS-CoV-2 vaccination status (0-1, 2, and ≥3 doses), and HIV-status.

The clinical spectrum of ataxia telangiectasia in a cohort in Sweden.

Ataxia telangiectasia (A-T), caused by biallelic variants in the gene, is a multisystemic and severe syndrome characterized by progressive ataxia, telangiectasia, hyperkinesia, immunodeficiency, increased risk of malignancy, and typically death before the age of 30. In this retrospective study we describe the phenotype of 14 pediatric and adult A-T patients evaluated at the Karolinska University Hospital in Sweden during the last 12 years. Most of the patients in this cohort were severely affected by ataxia and wheelchair use started at a median age of 9 years.

Product Choice Affects Risk of False-Positive Hepatitis B Virus Serology During Immunoglobulin Replacement Therapy.

Hepatitis B virus (HBV) core antigen antibodies passively transferred from immunoglobulin products used for replacement or immunomodulation may lead to unnecessary antiviral treatment for patients who are also starting immunosuppressive treatment. We have systematically assessed the contents of 93 commercial immunoglobulin batches and show that there are consistent product-specific differences in the levels of HBV core antigen antibodies and that choice of immunoglobulin product may have an impact on false-positivity rates.

Sex and Biology: Broader Impacts Beyond the Binary.

What are the implications of misunderstanding sex as a binary, and why is it essential for scientists to incorporate a more expansive view of biological sex in our teaching and research? This roundtable will include many of our symposium speakers, including biologists and intersex advocates, to discuss these topics and visibilize the link between ongoing reification of dyadic sex within scientific communities and the social, political, and medical oppression faced by queer, transgender, and especially intersex communities. As with the symposium as a whole, this conversation is designed to bring together empirical research and implementation of equity, inclusion, and justice principles, which are often siloed into separate rooms and conversations at academic conferences. Given the local and national attacks on the rights of intersex individuals and access to medical care and bodily autonomy, this interdisciplinary discussion is both timely and urgent.

SARS-CoV-2 Antibodies in Commercial Immunoglobulin Products Show Markedly Reduced Cross-reactivities Against Omicron Variants.

Purpose: Patients with antibody deficiencies often receive maintenance treatment with donor plasma-derived immunoglobulin (Ig) preparations to decrease the incidence and severity of infections. We have previously shown that IgG antibodies to the original SARS-CoV-2 strain were not consistently present in off-the-shelf Ig batches produced up to approximately 18 months after the first identified case of COVID-19 in the USA and that Ig batches with anti-SARS-CoV-2 IgG primarily contained vaccine-induced spike specific antibodies. This study aimed to investigate the degree of cross-reactivity between vaccine-induced anti-SARS-CoV-2 antibodies against Wuhan strain and subsequent viral variants.

Early relapse prediction after allogeneic hematopoietic stem cell transplantation for acute lymphoblastic leukemia (ALL) using lineage-specific chimerism analysis.

Relapse is a major cause of treatment failure after hematopoietic stem cell transplantation (HSCT) for acute leukemia. Here, we report a monocentric retrospective study of all HSCTs for B cell acute lymphoblastic leukemia (ALL) performed during the years 2005-2021 ( = 138, including 51 children), aiming to identify the optimal use of lineage-specific recipient-donor chimerism analysis for prediction of relapse. In adults, relapse was associated with increased recipient chimerism in CD3 bone marrow cells sampled at least 30 days before a relapse.

T cell receptor excision circles are potential predictors of survival in adult allogeneic hematopoietic stem cell transplantation recipients with acute myeloid leukemia.

Background: Lymphocyte neogenesis from primary lymphoid organs is essential for a successful reconstitution of immunity after allogeneic hematopoietic stem cell transplantation (HSCT). This single-center retrospective study aimed to evaluate T cell receptor excision circles (TREC) and kappa-deleting recombination excision circles (KREC) as surrogate markers for T and B cell recovery, as predictors for transplantation-related outcomes in adult acute myeloid leukemia (AML) patients.

Methods: Ninety adult patients diagnosed with AML and treated with HSCT between 2010 and 2015 were included in the study.

The Hidden Disease: Delayed Diagnosis in Duchenne Muscular Dystrophy and Co-Occurring Conditions.

Objective: Early diagnosis of Duchenne muscular dystrophy (DMD) is important for timely intervention to prolong function and preserve quality of life. The prevalence of various neurocognitive disorders is known to be higher in patients with DMD than the general population. In this study, we highlight cases of delayed DMD diagnosis that resulted from misattribution of early motor symptoms to co-occurring neurocognitive conditions.

Neutralizing SARS-CoV-2 Antibodies in Commercial Immunoglobulin Products Give Patients with X-Linked Agammaglobulinemia Limited Passive Immunity to the Omicron Variant.

Immunodeficient individuals often rely on donor-derived immunoglobulin (Ig) replacement therapy (IGRT) to prevent infections. The passive immunity obtained by IGRT is limited and reflects the state of immunity in the plasma donor population at the time of donation. The objective of the current study was to describe how the potential of passive immunity to SARS-CoV-2 in commercial off-the-shelf Ig products used for IGRT has evolved during the pandemic.

Lineage-specific early complete donor chimerism and risk of relapse after allogeneic hematopoietic stem cell transplantation for acute myeloid leukemia.

Recipient-donor chimerism is routinely analyzed after allogeneic hematopoietic stem cell transplantation (HSCT) to monitor engraftment and graft rejection. For malignancies, chimerism can also be used to screen for disease relapse post-HSCT but methodology and interpretation of results are not standardized and likely depend on underlying diagnosis. We have implemented highly sensitive and accurate methodologies for chimerism analysis for the purpose of improving relapse prediction.

Neuroinflammation Associated With Inborn Errors of Immunity.

The advent of high-throughput sequencing has facilitated genotype-phenotype correlations in congenital diseases. This has provided molecular diagnosis and benefited patient management but has also revealed substantial phenotypic heterogeneity. Although distinct neuroinflammatory diseases are scarce among the several thousands of established congenital diseases, elements of neuroinflammation are increasingly recognized in a substantial proportion of inborn errors of immunity, where it may even dominate the clinical picture at initial presentation.

COVID-19 in a patient with Good's syndrome and in 13 patients with common variable immunodeficiency.

Antibody deficiencies constitute the majority of primary immunodeficiencies in adults. These patients have a well-established increased risk of bacterial infections but there is a lack of knowledge regarding the relative risks upon contracting COVID-19. In this monocentric study the disease course of COVID-19 in 1 patient with Good's syndrome and in 13 patients with common variable immunodeficiency (CVID) is described.

Interleukin-22 Influences the Th1/Th17 Axis.

Interleukin-22 (IL-22) is secreted by a wide range of immune cells and its downstream effects are mediated by the IL-22 receptor, which is present on non-immune cells in many organs throughout the body. IL-22 is an inflammatory mediator that conditions the tissue compartment by upregulating innate immune responses and is also a homeostatic factor that promotes tissue integrity and regeneration. Interestingly, the IL-22 system has also been linked to many T cell driven inflammatory diseases.

The DQB103:02 Genotype and Treatment for Pain in People With and Without Multiple Sclerosis.

Murine models have demonstrated that the major histocompatibility complex (MHC) is associated with pain-like behavior in peripheral nerve injury, however, the same association has not been shown when considering injury to the central nervous system (CNS), which more closely mimics the damage to the CNS experienced by MS patients. Previous research has indicated the DQB103:02 allele of the class II HLA genes as being associated with development of neuropathic pain in persons undergoing inguinal hernia surgery or with lumbar spinal disk herniation. Whether this HLA allele plays a part in susceptibility to pain, has not, as far as we are aware, been previously investigated.

A small number of surgeons outside the control-limit: an observational study based on 9,482 cases and 208 surgeons performing primary total hip arthroplasties in western Sweden.

Background and purpose - Feedback programs relating to surgeon levels have been introduced in some orthopedic quality registers around the globe. The aim of an established surgeon feedback program is to help surgeons understand their practice and enable an analysis of their own results. There is no surgeon feedback program in Sweden in the orthopedic quality registers and there is a fear that a feedback system might pinpoint surgeons as poor performers, partly due to patient case mix.

Airway hyperresponsiveness, remodeling and inflammation in infants with wheeze.

Background: The relationship of airway hyperresponsiveness to airway remodeling and inflammation in infants with wheeze is unclear.

Objective: To investigate airway hyperresponsiveness, remodeling and inflammation in infants with wheeze and troublesome breathing.

Methods: Inclusion criteria were as follows: full-term, 3-23 months of age; doctor -diagnosed wheeze and persistent recurrent troublesome breathing; without obvious structural defect, suspicion of ciliary dyskinesia, cystic fibrosis, immune deficiency or specified use of corticosteroids.

Increased level of circulating cell-free mitochondrial DNA due to a single bout of strenuous physical exercise.

Purpose: Physical exercise is reported to affect the immune response in various ways. Thus, the levels of pro-inflammatory cytokines as well as the abundance of circulating leukocytes are changed. In this study, the occurence of circulating cell-free mitochondrial DNA (cfmtDNA) and nuclear DNA (nDNA) was investigated in connection with a single bout of strenuous physical exercise.

Surgical treatment of Vancouver type B periprosthetic femoral fractures: patient characteristics and outcomes of 1381 fractures treated in Sweden between 2001 and 2011.

Aims: We investigated patient characteristics and outcomes of Vancouver type B periprosthetic fractures treated with femoral component revision and/or osteosynthesis.

Patients And Methods: The study utilized data from the Swedish Hip Arthroplasty Register (SHAR) and information from patient records. We included all primary total hip arthroplasties (THAs) performed in Sweden since 1979, and undergoing further surgery due to Vancouver type B periprosthetic femoral fracture between 2001 and 2011.

Lower reoperation rate with locking plates compared with conventional plates in Vancouver type C periprosthetic femoral fractures: A register study of 639 cases in Sweden.

Aim: To investigate demographics and outcomes of Vancouver type C periprosthetic femoral fractures (PPFF) treated with open reduction and internal fixation.

Methods: Patient data were obtained from medical charts of cases reported to the Swedish Hip Arthroplasty Register and/or from the National Patient Register. Vancouver type C fractures undergoing surgery between 2001 and 2011, in patients who had received their primary THR between 1979 and 2011, were included.

IL-22 Binding Protein Promotes the Disease Process in Multiple Sclerosis.

Genome-wide association studies have mapped the specific sequence variants that predispose for multiple sclerosis (MS). The pathogenic mechanisms that underlie these associations could be leveraged to develop safer and more effective MS treatments but are still poorly understood. In this article, we study the genetic risk variant rs17066096 and the candidate gene that encodes IL-22 binding protein (IL-22BP), an antagonist molecule of the cytokine IL-22.

High annual surgeon volume reduces the risk of adverse events following primary total hip arthroplasty: a registry-based study of 12,100 cases in Western Sweden.

Background and purpose - Most earlier publications investigating whether annual surgeon volume is associated with lower levels of adverse events (AE), reoperations, and mortality are based on patient cohorts from North America. There is also a lack of adjustment for important confounders in these studies. Therefore, we investigated whether higher annual surgeon volume is associated with a lower risk of adverse events and mortality within 90 days following primary total hip arthroplasty (THA).

The design of the cemented stem influences the risk of Vancouver type B fractures, but not of type C: an analysis of 82,837 Lubinus SPII and Exeter Polished stems.

Background and purpose - In total hip replacements, stem design may affect the occurrence of periprosthetic femoral fracture. We studied risk factors for fractures around and distal to the 2 most used cemented femoral stems in Sweden. Patients and methods - This is a register study including all standard primary Lubinus SPII and Exeter Polished stems operated in Sweden between 2001 and 2009.

Incidence and demographics of 1751 surgically treated periprosthetic femoral fractures around a primary hip prosthesis.

Introduction: Periprosthetic femoral fractures (PPFF), treated surgically, have been recorded in the Swedish Hip Arthroplasty Register (SHAR) since 1979. It is postulated that fractures treated with other methods other than stem revision have a lower registration rate, which may lead to incomplete registry data and thus, inaccurate information. We collected all PPFFs surgically treated in Sweden between 2001 and 2011 with the purpose of studying the annual incidence, demographics and distribution of fracture types with regard to type of fixation.

Does surgeon experience affect patient-reported outcomes 1 year after primary total hip arthroplasty?

Background and purpose - Several studies have reported on the influence of various factors on patient-reported outcomes (PROs) after total hip arthroplasty (THA), but very few have focused on the experience of the surgeon. We investigated any association between surgeons' experience and PROs 1 year after primary THA. Patients and methods - Patient characteristics and surgical data at 10 hospitals in western Sweden were linked with PROs (EQ-5D-3L, Satisfaction Visual Analogue Scale (VAS), Pain VAS).