ArticleBlood2012
A mutation in the human Uncoordinated 119 gene impairs TCR signaling and is associated with CD4 lymphopenia.
Article in Blood, 2012. The graph could read no effect estimate from its abstract, so it casts no vote on the map. An erratum has been issued. Cited by 34 papers, 1 of them a synthesis that pooled it.
What it found
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
34 citing papers in PubMed, 1 synthesis or guideline pooled it, 58 citations in OpenAlex.
- The Hitchhiker Guide to CD4Frontiers in immunology · 2021Pooled it
- UNC119 regulates T-cell receptor signalling in primary T cells and T acute lymphocytic leukaemia.Life science alliance · 2025Article
- SMAD4 Regulates the Expression of LCK Affecting Chimeric Antigen Receptor-T Cells Proliferation Through PI3K/Akt Signaling Pathway.Journal of cellular physiology · 2025Article
- Pediatric herpes zoster: should I be concerned for immunodeficiency? A review.Frontiers in pediatrics · 2025Review
- Disseminated Cryptococcus over pancreas, lung, and brain: a case report.Journal of medical case reports · 2024Article
- FOXI3 haploinsufficiency contributes to low T-cell receptor excision circles and T-cell lymphopenia.The Journal of allergy and clinical immunology · 2022Article
- Integrative and Comprehensive Pan-Cancer Analysis of Lymphocyte-Specific Protein Tyrosine Kinase in Human Tumors.International journal of molecular sciences · 2022Article
- An Under-Recognized Disease: A Rare Case of Idiopathic CD4 Lymphopenia Mislabeled as Primary Ciliary Dyskinesia.Children (Basel, Switzerland) · 2022Article
- Depletion of Ift88 in thymic epithelial cells affects thymic synapse and T-cell differentiation in aged mice.Anatomical science international · 2022Article
- The Structural and Biochemical Characterization of UNC119B Cargo Binding and Release Mechanisms.Biochemistry · 2021Article
- ARL3, a small GTPase with a functionally conserved role in primary cilia and immune synapses.Small GTPases · 2021Review
- The role of competing mechanisms on Lck regulation.Immunologic research · 2020Review
- Idiopathic CD4 Lymphocytopenia: Current Insights.ImmunoTargets and therapy · 2020Review
- A Ciliary View of the Immunological Synapse.Cells · 2019Review
- Humanized mouse models reveal an immunologic classification of idiopathic CD4 lymphocytopenia subtypes.JCI insight · 2019Article
- Biophysical basis underlying dynamic Lck activation visualized by ZapLck FRET biosensor.Science advances · 2019Article
- The Ciliary Machinery Is Repurposed for T Cell Immune Synapse Trafficking of LCK.Developmental cell · 2018Article
- Molecular Classification of Primary Immunodeficiencies of T Lymphocytes.Advances in immunology · 2018Review
- Immunology of Cryptococcal Infections: Developing a Rational Approach to Patient Therapy.Frontiers in immunology · 2018Review
- Cryptococcal meningitis: epidemiology, immunology, diagnosis and therapy.Nature reviews. Neurology · 2017Review
Corrections and comments
- Erratum issued
Authors and funding
2 authors at 1 institution in 1 country.
Funding
Abstract
Idiopathic CD4 lymphopenia (ICL) is an immunodeficiency disorder of unclear etiology. Here we describe a heterozygous dominant-negative missense mutation (codon 22 GGC→GTC; V22G) of the signaling adaptor protein Uncoordinated 119 (Unc119) in an ICL patient. The patient is a 32-year-old female with < 300 CD4 T cells/μL and with a history of recurrent sinusitis/otitis media, frequent episodes of shingles, a widespread fungal nail infection, fungal dermatitis, oral herpetic lesions, and bronchiolitis obliterans organizing pneumonia after 2 episodes of bacterial pneumonia. The patient's cells have reduced response to TCR stimulation, with impairment in both localization and enzymatic activation of the lymphocyte-specific kinase (Lck) resulting in decreased cell proliferation. Transduction of the mutant Unc119 but not wild-type Unc119 into normal T cells reproduces the signaling and proliferation defects. The mutation disrupts the Unc119-Lck interaction which is normally needed for stimulation of the Lck catalytic activity by TCR. The mutant protein also causes mislocalization of Lck to Rab11(+) perinuclear endosomes. The mutation is not present in 2 other patients with ICL, patients with secondary CD4 lymphopenia or 60 healthy subjects. The V22G mutation of Unc119 represents a novel genetic defect in ICL.
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What OpenQuestion holds
Registered trials
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.