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Defective neutrophil development and specific granule deficiency caused by a homozygous splice-site mutation in SMARCD2 |
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| Authors: | Ina Schim van der Loeff Evelien GG Sprenkeler Anton TJ Tool Mario Abinun Angela Grainger Karin R Engelhardt Michel van Houdt Hans Janssen Taco W Kuijpers Sophie Hambleton |
| Affiliation: | 1. Immunity & Inflammation Theme, Translational and Clinical Research Institute, Faculty of Medical Sciences, Newcastle University, Newcastle upon Tyne, United Kingdom;2. Great North Children’s Hospital (GNCH), Newcastle upon Tyne Hospitals NHS Foundation Trust, Newcastle upon Tyne, United Kingdom;3. Department of Blood Cell Research, Sanquin Research, Amsterdam University Medical Centre, University of Amsterdam, Amsterdam, The Netherlands;4. Department of Pediatric Immunology, Rheumatology and Infectious Disease, Emma Children’s Hospital, Amsterdam University Medical Centre, University of Amsterdam, Amsterdam, The Netherlands;5. Division of Biochemistry, The Netherlands Cancer Institute, Amsterdam, The Netherlands |
| Abstract: | |
| Keywords: | Splice-site mutation CEBPε lactoferrin chemotaxis neutrophil-specific granule deficiency phagocyte disorder inborn error of immunity CEBPε"} {"#name":"keyword" "$":{"id":"kwrd0050"} "$$":[{"#name":"text" "_":"CCAAT-enhancer-binding protein ε SGD"} {"#name":"keyword" "$":{"id":"kwrd0060"} "$$":[{"#name":"text" "_":"Specific granule deficiency SMARCD2"} {"#name":"keyword" "$":{"id":"kwrd0070"} "$$":[{"#name":"text" "_":"SWI/SNF-related matrix-associated actin-dependent regulator of chromatin subfamily D member 2 |
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