The DOI matches its Crossref record; 39 of the 39 references it cites were found in a registry or an index.
The phenotype of human STK4 deficiency
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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“DOCK8-and most MST1-deficient patients suffer from recurrent cutaneous viral infections, including α-HPV infections, but not from persistent EV-HPV infections (47,48).”
From Human RHOH deficiency causes T cell defects and susceptibility to EV-HPV infections (2012) · cites this paper as [47]
Citations
Cites
The Hippo–YAP pathway in organ size control and tumorigenesis: an updated version
Zhao, B., Li, L., Lei, Q., & Guan, K.-L. (2010) · Genes & Development · doi:10.1101/gad.1909210 · Cited by 1,144
Hippo Pathway Inhibits Wnt Signaling to Restrain Cardiomyocyte Proliferation and Heart Size
Heallen, T. R., Zhang, M., Wang, J., Bonilla-Claudio, M., Klysik, E., Johnson, R. L., & Martin, J. F. (2011) · Science · doi:10.1126/science.1199010 · Cited by 1,092
Zhou, D., Conrad, C., Xia, F., Park, J.-S., Payer, B., Yin, Y., Lauwers, G. Y., Thasler, W., Lee, J. T., Avruch, J., et al. (2009) · Cancer Cell · doi:10.1016/j.ccr.2009.09.026 · Cited by 913
A Conserved MST-FOXO Signaling Pathway Mediates Oxidative-Stress Responses and Extends Life Span
Lehtinen, M. K., Yuan, Z., Boag, P. R., Yang, Y., Villén, J., Becker, E. B. E., DiBacco, S., de la Iglesia, N., Gygi, S. P., Blackwell, T. K., et al. (2006) · Cell · doi:10.1016/j.cell.2006.03.046 · Cited by 858
A Homozygous CARD9 Mutation in a Family with Susceptibility to Fungal Infections
Glocker, E.-O., Hennigs, A., Nabavi, M., Schäffer, A. A., Woellner, C., Salzer, U., Pfeifer, D., Veelken, H., Warnatz, K., Tahami, F., et al. (2009) · New England Journal of Medicine · doi:10.1056/nejmoa0810719 · Cited by 800
Self-citationMammalian Mst1 and Mst2 kinases play essential roles in organ size control and tumor suppression
Song, H., Mak, K. K., Topol, L., Yun, K., Hu, J., Garrett, L., Chen, Y., Park, O., Chang, J., Simpson, R. M., et al. (2010) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.0911409107 · Cited by 583
Mutations in the gene encoding neutrophil elastase in congenital and cyclic neutropenia
Dale, D. C., Person, R., Bolyard, A. A., Aprikyan, A. A. G., Bos, C., Bonilla, M. A., Boxer, L. A., Kannourakis, G., Zeidler, C., Welte, K., et al. (2000) · Blood · doi:10.1182/blood.v96.7.2317 · Cited by 559
HAX1 deficiency causes autosomal recessive severe congenital neutropenia (Kostmann disease)
Klein, C., Grudzien, M., Appaswamy, G., Germeshausen, M., Sandrock, I., Schäffer, A. A., Rathinam, C., Boztug, K., Schwinzer, B., Rezaei, N., et al. (2007) · Nature Genetics · doi:10.1038/ng1940 · Cited by 506
Self-citationApoptotic Phosphorylation of Histone H2B Is Mediated by Mammalian Sterile Twenty Kinase
Cheung, W. L., Ajiro, K., Samejima, K., Kloc, M., Cheung, P., Mizzen, C. A., Beeser, A., Etkin, L. D., Chernoff, J., Earnshaw, W. C., et al. (2003) · Cell · doi:10.1016/s0092-8674(03)00355-6 · Cited by 485
Pendergrass, W., Wolf, N., & Poot, M. (2004) · Cytometry Part A · doi:10.1002/cyto.a.20033 · Cited by 473
Cited by
Targeting the Hippo pathway in cancer, fibrosis, wound healing and regenerative medicine
Dey, A., Varelas, X., & Guan, K.-L. (2020) · Nature Reviews Drug Discovery · doi:10.1038/s41573-020-0070-z · Cited by 860
Geng, J., Shi, Y., Zhang, J., Yang, B., Wang, P., Yuan, W., Zhao, H., Li, J., Qin, F., Hong, L., et al. (2021) · Nature Communications · doi:10.1038/s41467-021-23683-y · Cited by 290
Geng, J., Sun, X., Wang, P., Zhang, S., Wang, X., Wu, H., Hong, L., Xie, C., Li, X., Zhao, H., et al. (2015) · Nature Immunology · doi:10.1038/ni.3268 · Cited by 264
Regulation of TEAD Transcription Factors in Cancer Biology
Huh, H., Kim, D., Jeong, H.-S., & Park, H. (2019) · Cells · doi:10.3390/cells8060600 · Cited by 259
Inherited DOCK2 Deficiency in Patients with Early-Onset Invasive Infections
Dobbs, K., Domínguez Conde, C., Zhang, S.-Y., Parolini, S., Audry, M., Chou, J., Haapaniemi, E., Keles, S., Bilic, I., Okada, S., et al. (2015) · New England Journal of Medicine · doi:10.1056/nejmoa1413462 · Cited by 201
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Metadata
- Authors
- Abdollahpour, H., Appaswamy, G., Kotlarz, D., Diestelhorst, J., Beier, R., Schäffer, A. A., Gertz, E. M., Schambach, A., Kreipe, H. H., Pfeifer, D., Engelhardt, K. R., Rezaei, N., Grimbacher, B., Lohrmann, S., Sherkat, R., & Klein, C.
- Affiliations
- Department of Pediatric Hematology/Oncology, Hannover Medical School, Hannover, Germany;
- National Center for Biotechnology Information, National Institutes of Health, Department of Health and Human Services, Bethesda, MD;
- Department of Experimental Hematology, Hannover Medical School, Hannover, Germany;
- Institute of Pathology, Hannover Medical School, Hannover, Germany;
- Department of Hematology/Oncology, Core Facility II Genomics, Freiburg University Medical Center, Freiburg, Germany;
- Department of Immunology and Molecular Pathology, Royal Free Hospital & University College London, London, United Kingdom;
- Research Center for Immunodeficiencies, Pediatrics Center of Excellence, Children's Medical Center, Tehran University of Medical Sciences, Tehran, Iran;
- Department of Pediatric Cardiology, Hannover Medical School, Hannover, Germany; and
- Infectious Diseases Research Center, Department of Infectious Diseases, Isfahan University of Medical Sciences, Isfahan, Iran
- Venue
- Blood
- Publisher
- American Society of Hematology
- Published
- 2012-04-12
- Volume
- 119
- Issue
- 15
- Pages
- 3450-3457
- ISSN
- 0006-4971
- 1528-0020
- Cited by
- 325
- References
- 39
- Language
- en
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- CoChat. (2026). Citation check: The phenotype of human STK4 deficiency. https://app.cochat.ai/papers/10.1182/blood-2011-09-378158
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- Abdollahpour, H., Appaswamy, G., Kotlarz, D., Diestelhorst, J., Beier, R., Schäffer, A. A., Gertz, E. M., Schambach, A., Kreipe, H. H., Pfeifer, D., Engelhardt, K. R., Rezaei, N., Grimbacher, B., Lohrmann, S., Sherkat, R., & Klein, C. (2012). The phenotype of human STK4 deficiency. Blood. https://doi.org/10.1182/blood-2011-09-378158
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