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Novel Missense Mutation inSP110Associated with Combined Immunodeficiency and Advanced Liver Disease Without VOD.

Authors
  • Delmonte, Ottavia M1
  • Baldin, Fabian2
  • Ovchinsky, Nadia3
  • Marquardsen, Florian2
  • Recher, Mike2
  • Notarangelo, Luigi D4
  • Kosinski, Slawomir M5
  • 1 Laboratory of Clinical Immunology and Microbiology, National Institutes of Allergy and Infectious Diseases, National Institute of Health, Bethesda, USA. [email protected]
  • 2 Immunodeficiency Clinic and Laboratory, Department Biomedicine, Basel University Hospital, Basel, Switzerland. , (Switzerland)
  • 3 Division of Pediatric Gastroenterology, Albert Einstein College of Medicine, Children's Hospital at Montefiore, The Bronx, NY, USA.
  • 4 Laboratory of Clinical Immunology and Microbiology, National Institutes of Allergy and Infectious Diseases, National Institute of Health, Bethesda, USA.
  • 5 Division of Allergy and Immunology, St. Joseph's University Medical Center, Paterson, NJ, USA. [email protected]
Type
Published Article
Journal
Journal of Clinical Immunology
Publisher
Springer-Verlag
Publication Date
Nov 13, 2019
Identifiers
DOI: 10.1007/s10875-019-00715-3
PMID: 31721003
Source
Medline
Language
English
License
Unknown
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