2025 Canadian resource guides for individuals and families affected by primary immunodeficiency

A diagnosis of immunodeficiency can be challenging for families as they navigate the emotional impact of this diagnosis, as well the potential financial burden of treatment. As is the case with many rare diseases, there existed a paucity of information for families looking for appropriate resources related to their diagnosis. The Primary Immunodeficiency Social Work Network was established in 2011 by Immunodeficiency Canada to develop a network of social workers across Canada who work with patients diagnosed with primary immunodeficiency. This network has had a focus on support programs, education, and research. Resource guides were created by the network with the goal of providing comprehensive support and information on resources available for families and individuals affected by primary immunodeficiency in each province as well as those available nationally. Statement of Novelty: National and provincial resources guides, reviewed and updated yearly, have been created for families and individuals affected by primary immunodeficiency.

A diagnosis of immunodeficiency can be challenging for families as they navigate the emotional impact of this diagnosis, as well as the potential financial burden of treatment. For rare diseases such as primary immunodeficiency (PI), patients are often required to take a proactive role in managing their own care and may be engaged with health care providers who have minimal experience with PI disease. These providers may also have limited access to information on the resources available for this population. A review of the information available showed that a paucity of information existed for these families who were looking for appropriate resources related to their diagnosis. The PI Social Work Network was established in 2011 by Immunodeficiency Canada to develop a network of social workers across Canada who work with patients diagnosed with PI. This network has had a focus on support programs, education, and research. Resource guides were created by the network to support families by providing information on both provincial as well as national resources available. While these lists are not exhaustive, there is an attempt to keep them as up to date as possible. If additional psychosocial support would be beneficial or a family requires support accessing resources, they should be directed to their local hospital social worker, or they may contact Wendy Shama, MSW, RSW, at Immunodeficiency Canada. Statement of novelty: National and provincial resources guides have been created for families and individuals affected by primary immunodeficiency.

Current classification and status of primary immunodeficiency diseases in Taiwan.

Primary Immunodeficiency Disease (PID), also known as Inborn Errors of Immunity (IEI), comprises a group of rare genetic disorders that impair the body's immune responses. These conditions result from monogenic germline mutations that affect the function of genes governing the innate and adaptive immune system. Therefore, individuals with PID are more susceptible to infectious diseases, allergies, and autoimmune and autoinflammatory conditions. The prevalence of PID has been on the rise, with the number of classified diseases reaching 404, and 430 genetic defects reported to cause these conditions. However, in Malaysia, genetic testing for PID is currently limited and needs to be outsourced to overseas laboratories, posing financial challenges for families. Moreover, limited research has focused on the knowledge and awareness of genetic testing among parents of children with PID in Malaysia. This study aims to address this gap and provide valuable insights into the knowledge, awareness, and perception of genetic testing among this specific population. This qualitative cross-sectional study utilised online open-ended, semi-structured focus group interviews to explore the perceptions and experiences of parents of children with Primary Immunodeficiency (PID). Participants were recruited through convenience sampling from the Malaysian Patient Organisation for Primary Immunodeficiencies (MyPOPI), a non-governmental organisation dedicated to providing support and raising awareness about PID. The study spanned from May 2023 to July 2023 and included participants from diverse regions of Malaysia who had undergone different diagnostic journeys in various hospitals. The focus group discussions yielded 11 sub-themes that highlighted the experiences, understanding and challenges of the participants regarding genetic testing based on the semi-structured questions. These sub-themes were then grouped into four main themes that are awareness and understanding of genetic testing, the journey towards diagnosis and treatment, emotional impact and psychological factors, and the importance of medical experts in diagnosing and managing PID, as well as public perception and awareness. In conclusion, this study highlights the diverse knowledge, awareness, and perception surrounding genetic testing for PID. Factors such as access to services, family history, and personal circumstances shape individuals' understanding of genetic testing. The importance of healthcare professionals, along with the need for improved accessibility and targeted communication strategies, is underscored to enhance understanding and reduce stigma surrounding genetic testing for rare diseases like PID.

Introduction Primary care providers have limited time for physical activity counseling. They can optimize counseling time by referring patients to community resources for more comprehensive support. To facilitate referrals, resource guides (lists of community opportunities with descriptive information) are often created but seldom used. We elicited the detailed opinions of providers about how to make resource guides more useful for them.

Health care organizations, including the Veterans Health Administration (VHA), are increasingly adopting programs to address social determinants of health. As part of a comprehensive social risk screening and referral model, tailored resource guides can support efforts to address unmet social needs. However, limited guidance is available on best practices for the development of resource guides in health care settings. This article describes the development of geographically tailored resource guides for a national VHA quality improvement initiative, Assessing Circumstances and Offering Resources for Needs (ACORN), which aims to systematically screen for and address social needs among veterans. We outline the rationale for using resource guides as a social needs intervention and provide a pragmatic framework for resource guide development and maintenance. We offer guidance based on lessons learned from the development of ACORN resource guides, emphasizing a collaborative approach with VHA social workers and other frontline clinical staff, as well as with community-based organizations. Our how-to guide provides steps for identifying high-yield resources along with formatting considerations to maximize accessibility and usability among patients. Resource guides can serve as a valuable cross-cutting component of health care organizations' efforts to address social needs. We provide a practical approach to resource guide development that may support successful implementation within the VHA and other clinical settings.

Unmet social needs lead to adverse health outcomes and contribute to health inequities. Efforts to screen for social determinants of health (SDOH) have occurred primarily within primary care. Here, we describe the feasibility of implementing a workflow for SDOH screening within 2 urology clinics in Charlotte, North Carolina. Our pilot was adapted from the WE CARE Model, which integrates a referral to community resources for patients identified with social needs and an optional followup with a navigator for additional assistance. Patients were screened with the validated Healthy Opportunities SDOH tool to assess food, housing, utilities, transportation and physical safety needs; 40 patients were screened at 2 urology clinics, totaling 80 patients. Surveys were sent to 16 clinicians and staff who participated in the pilot to assess feasibility of implementation. In all, 24/80 patients (30%) were screened for 1 or more social needs, with food and housing being the most frequent; 20/24 patients with social need (83%) successfully received a community resource guide, and 13 of those patients also requested a referral. All survey respondents either agreed or strongly agreed that screening was valuable and allowed them to better understand the needs of their patients. They also felt that understanding SDOH aligns with departmental goals and mission. Our results suggest that SDOH screening within a urological setting is feasible, and dedicated support staff should be available to ensure adequate followup for patients with unmet needs. Future work is needed to expand resources for patients and optimize workflow for clinicians.

Primary immunodeficiency diseases (PIDs) represent a typical group of rare diseases with high mortality and disability with regard to long-term outcome.Saving life and improving quality of life of the patients with PID remain to be the responsibility of the stakeholders from all aspects of the society.As the central player in the long run of PID campaign, pediatric immunologists should play a critical role in providing key epidemiological data in favor of political decision-making and social resource distribution. Key words: Primary immunodeficiency diseases; Stakeholder; Intravenous immunoglobulin; Newborn scree-ning; Hematopoitic stem cell transplantation

Primary immunodeficiency disease (PID) phenomeR (an integrated web-based ontology resource towards establishment of PID E-clinical decision support system)

Psychiatrists Write MH Resource for Black Community

Background: Primary immunodeficiencies (PIDs) are a heterogeneous group of disorders. The lack of comprehensive disease-specific mutation databases may hinder or delay classification of the genetic variants found in samples from these patients. This is especially true for familial hemophagocytic lymphohistiocytosis (FHL), a life-threatening PID classically considered an autosomal recessive condition, but with increasingly demonstrated genetic heterogeneity.Objective: The aim of this study was to build an open-access repository to collect detailed information on the known genetic variants reported in FHL.Methods: We manually reviewed more than 120 articles to identify all reported variants related to FHL. We retrieved relevant information about the allelic status, the number of patients with the same variant, and whether functional assays were done. We stored all the data retrieved in a PostgreSQL database and then built a website on top of it, using the Django framework.Results: The database designed (FHLdb) (https://www.biotoclin.org/FHLdb) contains comprehensive information on reported variants in the 4 genes related to FHL (PRF1, UNC13D, STXBP2, STX11). It comprises 240 missense, 69 frameshift, 51 nonsense, 51 splicing, 10 in-frame indel, 7 deep intronic, and 5 large rearrangement variants together with their allelic status, carrier(s) information, and functional evidence. All genetic variants have been classified as pathogenic, likely pathogenic, uncertain significance, likely benign or benign, according to the American College of Medical Genetics guidelines. Additionally, it integrates information from other relevant databases: clinical evidence from ClinVar and UniProt, population allele frequency from ExAC and gnomAD, and pathogenicity predictions from well-recognized tools (e.g., PolyPhen-2, SIFT). Finally, a diagram depicts the location of the variant relative to the gene exon and protein domain structures.Conclusion: FHLdb includes a broad range of data on the reported genetic variants in familial HLH genes. It is a free-access and easy-to-use resource that will facilitate the interpretation of molecular results of FHL patients, and it illustrates the potential value of disease-specific databases for other PIDs.

ObjectiveTo analyze the implementation of the Principles of Care (PoC) in primary immunodeficiencies (PID) in Southeast Asia (SEA) countries - six years after its call of action.MethodologyUsing the newly developed PID Life Index software, the index of implementation of principles of care in the management of PIDs patients involving the six participating SEA countries (Cambodia, Indonesia, Malaysia, Vietnam, Thailand, and Philippines) were extracted. For each of the six separate principles, the index from the six countries will be compared and presented based on the calculated index.ResultsComparative analysis of the six principles of care of PID in the SEA countries showed low diagnostic rate with minimal availability of diagnostic tests options. Generally, almost all SEA countries provide curative treatments, vaccines, and anti-infectious therapies although the reimbursement scheme varied in relieving patients’ financial burden. We also highlighted the active involvement of patient organizations in SEA, with main areas of work focused on advocacy and increasing awareness among public and healthcare professionals.Discussion and conclusionIt is applaudable that the SEA continent is gradually strengthening its work in management of PID, especially in Thailand and Vietnam. However, more emphasis must be placed among stakeholders in SEA countries towards successful implementation of the PoC for a holistic management of PID patients.

Health-related quality of life in primary immunodeficiencies: Impact of delayed diagnosis and treatment burden

PurposeTo describe the development and psychometric testing of a new questionnaire to measure the burden of immunoglobulin treatment (Ig) from the perspective of patients with primary immunodeficiencies (PID).Patients and MethodsAn online, cross-sectional survey was administered to PID patients across 10 countries (nine European and Canada) who were receiving either intravenous (IVIg) or subcutaneous (SCIg) immunoglobulin therapy. The range and distribution of the responses (ie, levels of missing data, floor and ceiling effects), exploratory factor analysis (using factor loadings of 0.4 or greater) and measures of internal consistency reliability (ie, Cronbach’s alpha coefficient, inter-item and item-total correlations) were used to identify the domain and item pool.ResultsIn total, 472 patients completed the questionnaire, of which 395 were included in the analysis (32% underwent IVIg and 67% underwent SCIg). The final instrument contained 34 items across eight domains of treatment burden (time, organisation and planning, leisure and social, interpersonal relationships, employment and education, travel, consequences of treatment and emotional) and an additional Ig treatment burden global question at the end of the measure. All the scales achieved good internal reliability (Cronbach’s alpha coefficient ranged from 0.70 to 0.85) and, with the exception of one item exceeded the minimum threshold of 0.35 for item-total correlations. Treatment burden was lower than anticipated across the different treatment routes and countries, although overall was more burdensome for patients undergoing IVIg compared to SCIg treatment.ConclusionThe IgBoT-35 appears to be a reliable, patient-generated questionnaire and may help to identify more individualised and preferred therapies for the PID patient when used in clinical practice. A new survey with a sample of US patients is currently being undertaken to further establish its validity and conceptual model. The overall Ig burden of treatment scores appeared to be low. PID patient preferences are important to guide treatment decisions and ensuring patients receive the right treatment at the right time.

The study of inbred populations has contributed remarkably to the description of new autosomal recessive primary immunodeficiencies (PIDs). Here, we examine the pattern of PIDs in North African populations and assess the impact of highly prevalent consanguinity. This review reports on the current status of pediatricians' awareness of PIDs in Egypt, Morocco, and Tunisia, where awareness of PIDs is relatively recent. The phenotypic distribution of PIDs is reported and compared among the three countries and with other populations. Data analysis reveals a prevalence of autosomal recessive forms and a peculiar distribution of major PID categories, particularly more combined immunodeficiencies than antibody disorders. In these endogamous communities, molecular diagnosis is critical to developing a genetic-based preventive approach. The organization of diagnosis and care services in these resource-limited settings faces many obstacles. Autosomal recessive PIDs are overrepresented; thus, it is critical to continue investigation of these diseases in order to better understand the underlying mechanisms and to improve patient care.