Journal article
Rapid genome sequencing identifies novel variants in complement factor I
Cold Spring Harbor molecular case studies, Vol.8(7), p.a006239
12/2022
DOI: 10.1101/mcs.a006239
PMCID: PMC9808552
PMID: 36577522
Abstract
Complement factor I deficiency (CFID; OMIM #610984) is a rare immunodeficiency caused by deficiencies in the serine protease complement factor I (CFI). CFID is characterized by predisposition to severe pneumococcal infection, often in infancy. We report a previously healthy adolescent male who presented with respiratory failure secondary to pneumococcal pneumonia and severe systemic inflammatory response. Rapid genome sequencing (rGS) identified compound heterozygous variants in
in the proband, with a novel maternally inherited likely pathogenic variant, a single nucleotide deletion resulting in premature stop (c.1646del; p.Asn549ThrfsTer25) and a paternally inherited novel likely pathogenic deletion (Chr 4:110685580-110692197del).
Details
- Title: Subtitle
- Rapid genome sequencing identifies novel variants in complement factor I
- Creators
- Katherine M Rodriguez - Rady Children's Hospital-San DiegoJordan Vaught - Department of Pediatrics, Immunology, and Rheumatology, Department of Pediatrics, University of California at San Diego, San Diego, California 92161, USAMichelle Dilley - Division of Allergy, Immunology, and Rheumatology, Department of Pediatrics, University of California at San Diego, San Diego, California 92161, USAKataryzna Ellsworth - Rady Children's Hospital-San DiegoAlaina Heinen - Rady Children's Hospital-San DiegoEdsel M Abud - Scripps ClinicYuzhou Zhang - University of IowaRichard J H Smith - University of IowaRobert Sheets - Division of Allergy, Immunology, and Rheumatology, Department of Pediatrics, University of California at San Diego, San Diego, California 92161, USABob Geng - Division of Allergy, Immunology, and Rheumatology, Department of Pediatrics, University of California at San Diego, San Diego, California 92161, USAHal M Hoffman - Division of Allergy, Immunology, and Rheumatology, Department of Pediatrics, University of California at San Diego, San Diego, California 92161, USAH Michael Worthen - Division of Pediatric Critical Care, Department of Pediatrics, University of California at San Diego, San Diego, California 92123, USADavid Dimmock - Rady Children's Hospital-San DiegoNicole G Coufal - Rady Children's Hospital-San Diego
- Resource Type
- Journal article
- Publication Details
- Cold Spring Harbor molecular case studies, Vol.8(7), p.a006239
- DOI
- 10.1101/mcs.a006239
- PMID
- 36577522
- PMCID
- PMC9808552
- NLM abbreviation
- Cold Spring Harb Mol Case Stud
- ISSN
- 2373-2865
- eISSN
- 2373-2873
- Language
- English
- Date published
- 12/2022
- Academic Unit
- Roy J. Carver Department of Biomedical Engineering; Molecular Physiology and Biophysics; Anatomy and Cell Biology; Stead Family Department of Pediatrics; Iowa Neuroscience Institute; Otolaryngology; Internal Medicine
- Record Identifier
- 9984354861802771
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