ArticleThe Journal of experimental medicine2013
Loss-of-function mutations in the IL-21 receptor gene cause a primary immunodeficiency syndrome.
Article in The Journal of experimental medicine, 2013. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 104 papers.
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Who cites it
104 citing papers in PubMed, 214 citations in OpenAlex.
- Article
- Primary atopic disorders: Monogenic insights into immunity.Journal of human immunity · 2026Review
- Cryptosporidiosis in inborn errors of immunity: a single center cohort and review of the literature.The Journal of infectious diseases · 2026Article
- Mixed Signals: T Cells as Architects of IgE Immunity.Immunological reviews · 2026Review
- Innate immunity and training to subvert original antigenic sin by the humoral immune response.eLife · 2025Article
- Article
- Exploring Monogenic, Polygenic, and Epigenetic Models of Common Variable Immunodeficiency.Human mutation · 2025Review
- Patients and mice with deficiency in the SNARE protein SYNTAXIN-11 have a secondary B cell defect.The Journal of experimental medicine · 2024Article
- Intestinal cDC1s provide cues required for CD4+ T cell-mediated resistance to Cryptosporidium.The Journal of experimental medicine · 2024Article
- Interleukin-21 receptor signaling promotes metabolic dysfunction-associated steatohepatitis-driven hepatocellular carcinoma by inducing immunosuppressive IgAMolecular cancer · 2024Article
- T-cell help in the germinal center: homing in on the role of IL-21.International immunology · 2024Article
- Unraveling the propensity of various genetic disorders and syndromes in the Koraga, an aboriginal tribe from southern India.Journal of biosciences · 2024Article
- Differential Diagnosis: Hepatic Complications in Inborn Errors of Immunity.Journal of clinical medicine · 2023Review
- IL-21 shapes germinal center polarization via light zone B cell selection and cyclin D3 upregulation.The Journal of experimental medicine · 2023Article
- Inborn errors of human B cell development, differentiation, and function.The Journal of experimental medicine · 2023Review
- The Th17/IL-17 Axis and Host Defense Against Fungal Infections.The journal of allergy and clinical immunology. In practice · 2023Review
- Inherited human ZNF341 deficiency.Current opinion in immunology · 2023Review
- The ups and downs of STAT3 function: too much, too little and human immune dysregulation.Clinical and experimental immunology · 2023Review
- JAK inhibitors differentially modulate B cell activation, maturation and function: A comparative analysis of five JAK inhibitors in anFrontiers in immunology · 2023Article
- Immunity to Cryptosporidium: Lessons from Acquired and Primary Immunodeficiencies.Journal of immunology (Baltimore, Md. : 1950) · 2022Article
44 more citing papers are in PubMed but not listed here.
Corrections and comments
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Authors and funding
26 authors at 14 institutions in 3 countries.
Funding
Abstract
Primary immunodeficiencies (PIDs) represent exquisite models for studying mechanisms of human host defense. In this study, we report on two unrelated kindreds, with two patients each, who had cryptosporidial infections associated with chronic cholangitis and liver disease. Using exome and candidate gene sequencing, we identified two distinct homozygous loss-of-function mutations in the interleukin-21 receptor gene (IL21R; c.G602T, p.Arg201Leu and c.240_245delCTGCCA, p.C81_H82del). The IL-21R(Arg201Leu) mutation causes aberrant trafficking of the IL-21R to the plasma membrane, abrogates IL-21 ligand binding, and leads to defective phosphorylation of signal transducer and activator of transcription 1 (STAT1), STAT3, and STAT5. We observed impaired IL-21-induced proliferation and immunoglobulin class-switching in B cells, cytokine production in T cells, and NK cell cytotoxicity. Our study indicates that human IL-21R deficiency causes an immunodeficiency and highlights the need for early diagnosis and allogeneic hematopoietic stem cell transplantation in affected children.
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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.