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Open research questions in Immunodeficiency and Autoimmune Disorders

116 gap statements mined from Immunodeficiency and Autoimmune Disorders papers in our 4.5M-paper local library, which holds 699 papers on the topic — drawn mostly from each paper's own stated research gap, future-work, challenge and limitation notes, and its abstract. The ones listed below are a selection still marked open; each names the study that raised it, with a DOI link where the paper has one.

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What the literature leaves open

  • The lack of segregation analysis and the absence of functional validation for VUS are the major limitation for clinical integration of these variants.

    Whole Genome Sequencing as First Diagnostic Approach for Inborn Errors of Immunity in Adults: Diagnostic Yield and Clinical Correlations · 2026 · DOI

  • 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 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 paper suggests that future research should focus on improving diagnosis and treatment of primary immunodeficiencies. It also highlights the potential of artificial intelligence and machine learning in aiding diagnosis.

    Recent advances in primary immunodeficiencies · 2026 · DOI

  • This study has several limitations that should be considered when interpreting the findings. First, the sample size was relatively small (n=72) and was limited to a single IVIg therapy clinic at a medical faculty hospital in Konya, Türkiye; this may restrict the generalizability of the results.

    Caregiving Burden and Family Harmony in Parents of Children with Primary Immunodeficiency · 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 need for further research on the role of Yersinia enterocolitica in triggering or exacerbating AIT.

    A rare connection between autoimmune thyroiditis and Yersinia enterocolitica 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

  • Many immunodeficiencies are underdiagnosed. Limited access to clinical immunology, advanced cytometry, functional complement testing, or genetic sequencing. Need for a practical guide to suspicion, diagnosis, and management of immunodeficiencies in pediatrics.

    Immunodeficiencies in Pediatrics: A Practical Guide to Suspicion, Diagnosis, and Management · 2026 · DOI

  • 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 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

  • Given the age dependency and the potential for severe complications, genetic evaluation of close relatives should be considered, and longitudinal follow-up is warranted even in asymptomatic or subclinically affected carriers.

    Clinical and immunological characterization of NFKB1 haploinsufficiency in Japan · 2026 · DOI

  • The approach to H-ID is still considerably variable, often involving different medical subdisciplines, and standardized treatment strategies are warranted.

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

  • In addition, how individuals who meet expanded clinical criteria but lack identifiable AIRE variants evolve over time — whether representing early APECED, phenocopies, or a heterogeneous group of related immune-mediated conditions — remains to be determined.

    Performance of expanded diagnostic criteria for APECED in independent cohorts and implications for earlier diagnosis · 2026 · DOI

  • In order to enable prompt and reliable identification of affected patients, future research should concentrate on enhancing early diagnosis by the integration of next-generation sequencing, functional immunological assays, and new biomarkers. A deeper comprehension of genotype-phenotype relationships will enhance disease prognostication and assist customized treatment plans.

    PRECISION THERAPEUTICS IN PRIMARY IMMUNE REGULATORY DISORDERS: CURRENT ADVANCES AND FUTURE DIRECTIONS · 2026 · DOI

  • Immunosuppressors are mentioned as a treatment in combination strategies or as steroid-sparing agents, but specific reports on efficacy are lacking due to the difficulty in describing a specific response in multisystemic autoimmunity.

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

  • Although the delayed onset of thrombocytopenia and chronic diarrhea was considered compatible with late-onset TAMA, the precise cause(s) remain uncertain because histological findings from the upper gastrointestinal tract and bone marrow were unavailable.

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

  • We used our map to identify AIRE positions, which had not been previously reported as functionally important, as having either loss- or gain-of-function impacts according to our reporter activation assay.

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

  • Although the genotypic and phenotypic implications of these variants remain unclear, we chose to report them in order to provide a preliminary dataset that may contribute to future large-scale genetic and mechanistic studies. Consequently, autoimmune endocrinopathies may have been underreported in our cohort.

    Prevalence, associated clinical factors, and genetic characteristics of endocrinopathies in common variable immunodeficiency: a retrospective study of 95 adult patients from a single tertiary care center · 2026 · DOI

  • This study presents a cohort of 21 adults with IEI who underwent WGS as a first-tier genetic test, in a context where few studies have evaluated its diagnostic performance for IEI.

    Whole Genome Sequencing as First Diagnostic Approach for Inborn Errors of Immunity in Adults: Diagnostic Yield and Clinical Correlations · 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

  • It also notes that diagnosis can be delayed by several years, leading to irreversible organ damage.

    Recent advances in primary immunodeficiencies · 2026 · DOI

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

    Atypical presentation of RAG1-associated SCID: diagnostic challenges beyond infections and lymphocyte count · 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…

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

  • The study aims to assess the effects of postponing BCG vaccination on BCG-related…

    Response: Commentary: The effects of postponing BCG vaccination on the risk of BCG-related complications among patients with severe combined immunodeficiency disease in Saudi Arabia · 2026 · DOI

Most-cited papers in Immunodeficiency and Autoimmune Disorders

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Open questions raised by papers listed on this page include: (1) The lack of segregation analysis and the absence of functional validation for VUS are the major limitation for clinical integration of these variants (“Whole Genome Sequencing as First Diagnostic Approach for Inborn Errors of…”, 2026); (2) The lack of established clinical decision limits for hypogammaglobulinemia tailored to specific populations (“Calculated globulin as a surrogate marker for hypogammaglobulinemia:…”, 2026); (3) 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…”, 2026); (4) The paper suggests that future research should focus on improving diagnosis and treatment of primary immunodeficiencies (“Recent advances in primary immunodeficiencies”, 2026); (5) 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…”, 2026). 116 gap statements have been mined from Immunodeficiency and Autoimmune Disorders papers in our 4.5M-paper local library, which holds 699 papers on the topic; the gaps come from whichever of those papers state one. They are mostly the research gaps the authors state and the papers' abstracts, plus future-work, limitations and challenges passages. The ones listed below are a selection still marked open; each names the study that raised it, with a DOI link where the paper has one, so you can read the original claim in context.

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