ArticleClinical immunology (Orlando, Fla.)2019
Clinical presentation, immunologic features, and hematopoietic stem cell transplant outcomes for IKBKB immune deficiency.
Article in Clinical immunology (Orlando, Fla.), 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 15 papers.
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Who cites it
15 citing papers in PubMed, 30 citations in OpenAlex.
- Clinical Significance of IKBKB Mutations:Saudi medical journal · 2026Review
- Monogenic disorders of immunity: Common variants are not so rare.Cell genomics · 2026Review
- Inborn errors of immunity in Canadian First Nations and Nunavut Inuit Children: the tip of the iceberg.Paediatrics & child health · 2025Article
- Dual variants of uncertain significance in a case of hyper-IgM syndrome: implications for diagnosis and management.Frontiers in immunology · 2025Article
- Case Report: A novelFrontiers in immunology · 2025Article
- Defective kinase activity of IKKα leads to combined immunodeficiency and disruption of immune tolerance in humans.Nature communications · 2024Article
- Regional differences in pediatric pneumococcal vaccine schedules for Indigenous children in Canada: an environmental scan.BMC health services research · 2024Article
- Identification of steroid-induced osteonecrosis of the femoral head biomarkers based on immunization and animal experiments.BMC musculoskeletal disorders · 2024Article
- Mistuned NF-κB signaling in lymphocytes: lessons from relevant inborn errors of immunity.Clinical and experimental immunology · 2023Article
- The diagnosis of severe combined immunodeficiency (SCID): The Primary Immune Deficiency Treatment Consortium (PIDTC) 2022 Definitions.The Journal of allergy and clinical immunology · 2023Article
- Review
- Susceptibility to infection in early life: a growing role for human genetics.Human genetics · 2020Review
- T Cell Impairment Is Predictive for a Severe Clinical Course in NEMO Deficiency.Journal of clinical immunology · 2020Article
- A Novel Homozygous Mutation Destabilizes IKKβ and Leads to Human Combined Immunodeficiency.Frontiers in immunology · 2020Article
- Multiple Family Members With Delayed Cord Separtion and Combined Immunodeficiency With Novel Mutation inFrontiers in pediatrics · 2020Article
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Authors and funding
7 authors at 5 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
IKBKB immune deficiency is a rare but life-threatening primary immunodeficiency disorder, involving activation defects in adaptive and innate immunity. We present sixteen cases of a homozygous IKBKB mutation (c.1292dupG) in infants characterized by early-onset bacterial, viral, fungal and Mycobacterial infections. In most cases, T- and B-cells were quantitatively normal, but phenotypically naïve, with severe hypogammaglobulinemia. T-cell receptor excision circles were normal, meaning newborn screening by TREC analysis would miss IKBKB cases. Although IKBKB immune deficiency does not meet traditional laboratory based definitions for SCID, this combined immune deficiency appears to be at least as profound. Urgent HSCT, performed in eight patients, remains the only known curative therapy, although only three patients are survivors. Ongoing infections after transplant remain a concern, and may be due to combinations of poor social determinants of health, secondary graft failure, and failure of HSCT to replace non-hematopoietic cells important in immune function and dependent upon IKK/NF-κB pathways.
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