RESUMO
Coeliac disease is a common immune-mediated inflammatory disorder caused by dietary gluten in genetically susceptible individuals. While the diagnosis of coeliac disease is based on serological and histological criteria, HLA-DQ genotyping can be useful, especially in excluding the diagnosis in patients who do not carry the relevant DQ heterodimers: DQA1*05 DQB1*02, DQB1*03:02 or DQA1*02 DQB1*02 (commonly referred to as DQ2.5, DQ8 and DQ2.2, respectively). External quality assessment results for HLA genotyping in coeliac disease have revealed concerning errors in HLA genotyping, reporting and clinical interpretation. In response, these guidelines have been developed as an evidence-based approach to guide laboratories undertaking HLA genotyping for coeliac disease and provide recommendations for reports to standardise and improve the communication of results.
Assuntos
Doença Celíaca , Antígenos HLA-DQ , Humanos , Genótipo , Antígenos HLA-DQ/genética , Doença Celíaca/diagnóstico , Doença Celíaca/genética , Predisposição Genética para Doença , Reino UnidoRESUMO
The Welsh Transplantation and Immunogenetics Laboratory (WTAIL) is responsible for managing patient work-up for haematopoietic stem cell transplantation (HSCT), the only potentially curative option for many haematological and non-haematological conditions. Work-up requires regular communication between WTAIL and the transplanting clinicians, facilitated by weekly multidisciplinary team (MDT) meetings, to agree decisions and proceed through each work-up stage. Effective communication and minimising error are critical, as transplanting cells from a suboptimal donor could have severe or fatal consequences for the patient. We reviewed our HSCT patient management and identified issues including staff dissatisfaction with the inefficiency of the current (paper-based) system and concern about the potential for incidents caused by errors in manual transcription of patient information and tracking clinical decisions. Another driver for change was the COVID-19 pandemic, which prevented the usual face-to-face MDT meetings in which staff would show clinicians the paper records and reports; the shift to online MDT required new ways of sharing data. In this project we developed a new central reference point for our patient management data along with electronic patient summary sheets, designed with an eye to improving safety and efficiency. Over several improvement cycles we tested and refined the summary sheets with staff and clinicians and experimented with videoconferencing to facilitate data sharing. We conducted interviews with staff from which we concluded that the new process successfully reduced transcription and duplication and improved communication with the clinicians during the pandemic. Despite an increase in workload due to build-up of active patient work-up cases during the pandemic, staff reported that the new summaries enabled them to cope well. A key initiative was creation of a 'Task and Finish' group that helped establish continual improvement culture and identified additional areas for improvement which have been followed up in further improvement projects.
Assuntos
COVID-19 , Transplante de Células-Tronco Hematopoéticas , Humanos , Gestão da Informação , Pandemias , SARS-CoV-2RESUMO
Sensitisation to human leukocyte antigen (HLA) represents a significant barrier to kidney transplantation. Antibody removal and immune modulation strategies, known as 'desensitisation', aim to reduce levels of circulating HLA antibodies and increase transplant opportunities for highly sensitised patients (HSPs). However, the effects of desensitisation are generally transient and maintaining low or absent HLA antibody levels remains a substantial challenge. Furthermore, several studies report variation in patient response, with a proportion of desensitised patients able to replenish or maintain levels of circulating HLA specific antibodies despite receiving treatment to remove antibodies, antibody-producing plasma cells and their precursor B-cells. Various factors that influence the response to desensitisation have been proposed. However, the immune system is central, with differences in cytokine and leukocyte repertoire (i.e. the persistence of HLA antibody producing long-lived plasma cells (LLPCs) residing in the bone marrow) critical to desensitisation. Various cytokines are involved in commitment of B-cells to the LLPC fate, including interleukin (IL)-6, IL-21, B-cell activation factor (BAFF), a proliferation-inducing ligand (APRIL) and C-X-C motif chemokine 12 (CXCL12). Several studies have investigated variation in patient response to desensitisation with various immunological factors proposed as predictive biomarkers. However, this review reveals a need for larger studies to validate existing findings and a need for better understanding of the complex effects of desensitisation on immune profiles.