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Open research questions in Immunodeficiency and Autoimmune Disorders

58 unresolved questions extracted from the limitations and future-work sections of 286 Immunodeficiency and Autoimmune Disorders papers in our library. Each links back to the study that raised it.

What the literature leaves open

  • The broad spectrum of clinical phenotypes in inborn errors of immunity makes the diagnostic process challenging. The lack of established clinical decision limits for hypogammaglobulinemia tailored to specific populations.

    Calculated globulin as a surrogate marker for hypogammaglobulinemia: establishing clinical decision limits in a Brazilian population cohort · 2026 · DOI

  • The lack of established clinical decision limits for hypogammaglobulinemia tailored to specific populations. The need for a widely available, low-cost parameter for screening primary or secondary antibody deficiencies.

    Calculated globulin as a surrogate marker for hypogammaglobulinemia: establishing clinical decision limits in a Brazilian population cohort · 2026 · DOI

  • Most cases of IEIs do not have an identifiable monogenic causative variant. The search was limited to articles published in English. Conference abstracts and posters were excluded.

    Navigating primary and secondary immunodeficiency intersections: how to find IEI hidden within SID · 2026 · DOI

  • The distinction between IEI and SID is not always clear, leading to delayed diagnosis and treatment. Most cases of IEIs do not have an identifiable monogenic causative variant. There is a need for a comprehensive guide to help identify underlying IEIs in patients with haematological malignancies.

    Navigating primary and secondary immunodeficiency intersections: how to find IEI hidden within SID · 2026 · DOI

  • The complexity of the genetic basis of IgAD. The need to identify pleiotropic loci associated with IgAD and autoimmune diseases. The challenge of analyzing large-scale GWAS data.

    Investigating the shared genetic architecture between selective immunoglobulin A deficiency and autoimmune diseases · 2026 · DOI

  • The management of hematologic immune dysregulation is challenging due to the lack of standardized treatment strategies. The diagnosis of hematologic immune dysregulation can be difficult due to its heterogeneous presentation. The treatment of hematologic immune dysregulation requires a multidisciplinary approach.

    Treating hematologic immune dysregulation in inborn errors of immunity: a real-life multicenter study · 2026 · DOI

  • Diagnosing ARPC1B deficiency can be challenging due to its rarity and similarity to other autoimmune disorders. Treating ARPC1B deficiency can be challenging due to the lack of understanding of its mechanisms.

    Case Report: Sirolimus as management strategy for thrombocytopenia related to ARPC1B deficiency · 2026 · DOI

  • The diagnosis of GS can be challenging due to its variable clinical presentation. The treatment of GS is challenging due to the lack of established therapeutic measures. The management of GS requires careful monitoring for the development of immune-mediated complications.

    Good’s Syndrome: Delayed Onset of Thrombocytopenia and Chronic Diarrhea After 3 Years of Intravenous Immunoglobulin Maintenance Treatment · 2026 · DOI

  • The study suggests that future research should focus on developing new treatments for autoimmune polyendocrine syndrome type 1. The study suggests that future research should use its approach to evaluate the function of variants in other genes and diseases.

    Systematic and proactive evaluation of AIRE missense variant effects · 2026 · DOI

  • The study identifies a gap in the current approach to evaluating the function of AIRE missense variants, which is often reactive and slow. The study notes that two-thirds of reported clinical variants are missense, and more than half are variants of uncertain significance.

    Systematic and proactive evaluation of AIRE missense variant effects · 2026 · DOI

  • Distinguishing primary HIES from common allergic diseases. Overlapping phenotypes make diagnosis difficult. Limited availability of genetic testing.

    Hyper-IgE syndromes in pediatrics: clinical spectrum, differential diagnosis, and management · 2026 · DOI

  • Development of gene-corrective strategies for DOCK8 deficiency. Exploration of the use of CRISPR/Cas9 editing of autologous hematopoietic stem cells.

    Hyper-IgE syndromes in pediatrics: clinical spectrum, differential diagnosis, and management · 2026 · DOI

  • The complexity of the blood virome. The heterogeneity of autoimmune diseases. The need for comprehensive viral metagenomic profiling.

    Viral metagenomic analysis of the blood virome in patients with multiple autoimmune diseases · 2026 · DOI

  • There is a need to examine the relationship between family harmony and caregiver burden among caregivers of children with primary immunodeficiency. There is a lack of research on the potential benefits of home-based therapies in supporting caregiver and family well-being.

    Caregiving Burden and Family Harmony in Parents of Children with Primary Immunodeficiency · 2026 · DOI

  • Atypical, noninfectious SCID presentations can be challenging to diagnose - RAG1-associated SCID can have varying presentations

    Atypical presentation of <i>RAG1</i>-associated SCID: diagnostic challenges beyond infections and lymphocyte count · 2026 · DOI

  • The correlation between histopathological data, tissue remodeling, and consequent appearance of lymphoid tissues in imaging investigations has not been thoroughly explored. Splenic microtexture has not been specifically investigated in IEI patients.

    Sponge-like sonographic pattern of the spleen in immune dysregulation disorders · 2026 · DOI

  • Considering the promising findings of our analysis, further studies on larger cohorts will hopefully help refine the prevalence of the sponge-like pattern in patients with IEIs and its potential diagnostic role, as well as its prevalence in other non-IEI conditions characterized by broad immune dysregulation (i.

    Sponge-like sonographic pattern of the spleen in immune dysregulation disorders · 2026 · DOI

  • The study uses a cross-sectional design, which may not capture the complexities of the relationship between ACEs and autoimmunity. The sample is limited to Canadian undergraduate psychology students, which may not be representative of the broader population. The study relies on self-reported data, which may be subject to biases and errors.

    Characteristics of Adverse Childhood Experiences and Associations with Adult Autoimmunity and Health-Related Quality of Life · 2026 · DOI

  • Future studies should investigate the mechanisms underlying the relationship between ACEs and autoimmunity. Future studies should examine the effectiveness of interventions aimed at preventing or mitigating the negative effects of adverse childhood experiences. Future studies should consider the characteristics of ACE exposure in understanding the relationship between ACEs and autoimmunity.

    Characteristics of Adverse Childhood Experiences and Associations with Adult Autoimmunity and Health-Related Quality of Life · 2026 · DOI

  • The exact incidence of IEI is not known in the studied country. There is a need for more studies on the clinical and laboratory characteristics of patients with IEI.

    Retrospective Evaluation of Patients with Primary Immunodeficiency: Five Years of Experience · 2026 · DOI

  • The gap in understanding the connection between infectious agents and autoimmune thyroiditis. The need for further research on the role of Yersinia enterocolitica in triggering or exacerbating AIT.

    A rare connection between autoimmune thyroiditis and <i>Yersinia enterocolitica</i> infection affecting male reproductive health: A clinical case report · 2026 · DOI

  • There is a need for further research to improve the diagnosis and management of IPEX syndrome. The disease is rare, making it difficult to conduct large-scale studies.

    IMMUNE DYSREGULATION, POLYENDOCRINOPATHY, AND ENTEROPATHY, X-LINKED (IPEX SYNDROME): A REVIEW OF THE LITERATURE AND AN ORIGINAL CLINICAL OBSERVATION · 2026 · DOI

  • Large-scale real-world studies assessing the relationship between demographic characteristics and autoantibody positivity remain limited. The relationship between autoantibody positivity and demographic variables such as age and sex remains an area of ongoing clinical and epidemiological investigation.

    Age- and Sex-Related Variability in ANA, ANCA and Other Autoantibody Positivity: A Large Tertiary Care Cohort Study · 2026 · DOI

  • Therefore, we could not determine the diagnostic yield of testing, such as the proportion of patients who ultimately fulfilled classification or diagnostic criteria for systemic autoimmune rheumatic diseases, autoimmune liver diseases, or ANCA-associated vasculitis.

    Age- and Sex-Related Variability in ANA, ANCA and Other Autoantibody Positivity: A Large Tertiary Care Cohort Study · 2026 · DOI

  • The lack of certified reference materials and internationally harmonized standards for human immunological assays. The need for a strategic framework for immunogenicity assays under ISO/IEC 17025:2017.

    Validation of advanced immunoassays under ISO/IEC 17025:2017: a strategic framework for immunogenicity assays · 2026 · DOI

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58 open questions have been extracted from the limitations and future-work passages of 286 Immunodeficiency and Autoimmune Disorders papers in our library. Each one below links back to the study that raised it, so you can read the original claim in context.

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