Rodriguez, Katherine M.;
Vaught, Jordan;
Dilley, Michelle;
Ellsworth, Kataryzna;
Heinen, Alaina;
Abud, Edsel M.;
Zhang, Yuzhou;
Smith, Richard J.H.;
Sheets, Robert;
Geng, Bob;
Hoffman, Hal M.;
Worthen, H. Michael;
Dimmock, David;
Coufal, Nicole G.
Rapid genome sequencing identifies novel variants in complement factor I
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Media type:
E-Article
Title:
Rapid genome sequencing identifies novel variants in complement factor I
Contributor:
Rodriguez, Katherine M.;
Vaught, Jordan;
Dilley, Michelle;
Ellsworth, Kataryzna;
Heinen, Alaina;
Abud, Edsel M.;
Zhang, Yuzhou;
Smith, Richard J.H.;
Sheets, Robert;
Geng, Bob;
Hoffman, Hal M.;
Worthen, H. Michael;
Dimmock, David;
Coufal, Nicole G.
Published:
Cold Spring Harbor Laboratory, 2022
Published in:
Molecular Case Studies, 8 (2022) 7, Seite a006239
Language:
English
DOI:
10.1101/mcs.a006239
ISSN:
2373-2865;
2373-2873
Origination:
Footnote:
Description:
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 inCFIin 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).