ArticleFrontiers in immunology2017
An Activating Janus Kinase-3 Mutation Is Associated with Cytotoxic T Lymphocyte Antigen-4-Dependent Immune Dysregulation Syndrome.
Article in Frontiers in immunology, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 24 papers.
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Who cites it
24 citing papers in PubMed, 35 citations in OpenAlex.
- Article
- Dissection of the trans-endocytosis and signal inhibition functions of CTLA-4 through the study of a disease-associated Y139C mutation.Cellular & molecular immunology · 2025Article
- The Burden of Non-Infectious Organ-Specific Immunopathology in Pediatric Common Variable Immunodeficiency.International journal of molecular sciences · 2025Review
- Spotlight on amino acid changing mutations in the JAK-STAT pathway: from disease-specific mutation to general mutation databases.Scientific reports · 2025Article
- Immunogenetic Landscape in Pediatric Common Variable Immunodeficiency.International journal of molecular sciences · 2024Review
- HeterozygousInternational journal of molecular sciences · 2024Article
- A Nationwide Study of the Delayed Diagnosis and the Clinical Manifestations of Predominantly Antibody Deficiencies andMedicina (Kaunas, Lithuania) · 2024Article
- Janus Kinase 3 (JAK3): A Critical Conserved Node in Immunity Disrupted in Immune Cell Cancer and Immunodeficiency.International journal of molecular sciences · 2024Review
- Role of Skewed X-Chromosome Inactivation in Common Variable Immunodeficiency.Journal of clinical immunology · 2024Article
- Selectivity, efficacy and safety of JAKinibs: new evidence for a still evolving story.Annals of the rheumatic diseases · 2024Review
- The effect of HLA genotype on disease onset and severity in CTLA-4 insufficiency.Frontiers in immunology · 2024Article
- DECTIN-1: A modifier protein in CTLA-4 haploinsufficiency.Science advances · 2023Article
- Functional Relevance of CTLA4 Variants: an Upgraded Approach to Assess CTLA4-Dependent Transendocytosis by Flow Cytometry.Journal of clinical immunology · 2023Article
- Interplay between epigenetic and genetic alterations in inborn errors of immunity.Trends in immunology · 2023Review
- JAKs and STATs from a Clinical Perspective: Loss-of-Function Mutations, Gain-of-Function Mutations, and Their Multidimensional Consequences.Journal of clinical immunology · 2023Review
- Current understanding of CTLA-4: from mechanism to autoimmune diseases.Frontiers in immunology · 2023Review
- JAK-STAT signaling in human disease: From genetic syndromes to clinical inhibition.The Journal of allergy and clinical immunology · 2021Review
- TACI Mutations in Primary Antibody Deficiencies: A Nationwide Study in Greece.Medicina (Kaunas, Lithuania) · 2021Article
- Immune checkpoint deficiencies and autoimmune lymphoproliferative syndromes.Biomedical journal · 2021Review
- Persistent Activation of Innate Immunity in Patients with Primary Antibody Deficiencies.Journal of immunology research · 2020Article
Corrections and comments
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Authors and funding
15 authors at 5 institutions in 4 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Heterozygous mutations in the cytotoxic T lymphocyte antigen-4 (CTLA-4) are associated with lymphadenopathy, autoimmunity, immune dysregulation, and hypogammaglobulinemia in about 70% of the carriers. So far, the incomplete penetrance of CTLA-4 haploinsufficiency has been attributed to unknown genetic modifiers, epigenetic changes, or environmental effects. We sought to identify potential genetic modifiers in a family with differential clinical penetrance of CTLA-4 haploinsufficiency. Here, we report on a rare heterozygous gain-of-function mutation in Janus kinase-3 (JAK3) (p.R840C), which is associated with the clinical manifestation of CTLA-4 haploinsufficiency in a patient carrying a novel loss-of-function mutation in CTLA-4 (p.Y139C). While the asymptomatic parents carry either the CTLA-4 mutation or the JAK3 variant, their son has inherited both heterozygous mutations and suffers from hypogammaglobulinemia combined with autoimmunity and lymphoid hyperplasia. Although the patient's lymph node and spleen contained many hyperplastic germinal centers with follicular helper T (T
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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.