ArticleBlood2012
The phenotype of human STK4 deficiency.
Article in Blood, 2012. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 172 papers, 1 of them a synthesis that pooled it.
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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.
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Who cites it
172 citing papers in PubMed, 1 synthesis or guideline pooled it, 322 citations in OpenAlex.
- Monogenic etiologies of persistent human papillomavirus infections: A comprehensive systematic review.Genetics in medicine : official journal of the American College of Medical Genetics · 2024Pooled it
- Autosomal dominant gain-of-function mutations in LCP1 cause a syndromic neutropenia and immunodeficiency.Genes & diseases · 2027Article
- A blended phenotype of primary immunodeficiency and Temtamy syndrome: Dual homozygosity forMolecular genetics and metabolism reports · 2026Article
- Hippo signaling regulates cuticle pigmentation and dopamine metabolism in Drosophila.PLoS genetics · 2026Article
- Fungal Infections in Disorders of Inborn Errors of Immunity.Clinical reviews in allergy & immunology · 2026Review
- Advances in Scalp Microbiome Research: Molecular Insights into the Metabolism-Inflammation-Barrier Axis and Dandruff Pathogenesis.Molecules (Basel, Switzerland) · 2026Review
- HAdV55 reprograms host 3D genome architecture and mitochondrial metabolism to drive pathogenesis.Cellular and molecular life sciences : CMLS · 2026Article
- Article
- In vivo CRISPR/Cas9 screens identify new regulators of B cell activation and plasma cell differentiation.The Journal of experimental medicine · 2026Article
- Immune-related actinopathies at the cross-road of immunodeficiency, autoimmunity and autoinflammation.Nature reviews. Immunology · 2026Review
- MST1 bridges LYN and SHP-1 to suppress FcεRI-mediated mast cell activation and allergic responses.Cellular & molecular immunology · 2026Article
- Serine/Threonine Kinase 4 Deficiency Caused by a Potential Novel c.248del, p.Pro83Leufs∗3 Mutation: A Case Report.Case reports in immunology · 2026Article
- Hippo signaling regulates cuticle pigmentation and dopamine metabolism inbioRxiv : the preprint server for biology · 2025Article
- Radix Scrophulariae regulates proliferation, apoptosis, and autophagy of rat thyroid cells via the MST1/Hippo signaling pathway.Scientific reports · 2025Article
- Pathological IgE Production in Inborn Errors of Immunity and Beyond.Immunological reviews · 2025Review
- The monogenic landscape of human infectious diseases.The Journal of allergy and clinical immunology · 2025Review
- Activation of the conserved Hippo kinases by inflammasome-triggered proteolytic cleavage controls programmed cell death in macrophages.Proceedings of the National Academy of Sciences of the United States of America · 2025Article
- Case Report of Two Independent Moroccan Families with Syndromic Epidermodysplasia Verruciformis and STK4 Deficiency.Viruses · 2024Article
- Epidermodysplasia Verruciformis and Vδ2 γδ T-cell Expansion in STK4 Deficiency.Journal of clinical immunology · 2024Article
- Proteomic analysis of cardiovascular disease-associated proteins in Korean patients with moderate-to-severe atopic dermatitis.The World Allergy Organization journal · 2024Article
112 more citing papers are in PubMed but not listed here.
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Authors and funding
16 authors at 9 institutions in 4 countries.
Funding
Abstract
We describe a novel clinical phenotype associating T- and B-cell lymphopenia, intermittent neutropenia, and atrial septal defects in 3 members of a consanguineous kindred. Their clinical histories included recurrent bacterial infections, viral infections, mucocutaneous candidiasis, cutaneous warts, and skin abscesses. Homozygosity mapping and candidate gene sequencing revealed a homozygous premature termination mutation in the gene STK4 (serine threonine kinase 4, formerly having the symbol MST1). STK4 is the human ortholog of Drosophila Hippo, the central constituent of a highly conserved pathway controlling cell growth and apoptosis. STK4-deficient lymphocytes and neutrophils exhibit enhanced loss of mitochondrial membrane potential and increased susceptibility to apoptosis. STK4 deficiency is a novel human primary immunodeficiency syndrome.
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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.