AI Article Synopsis
- - Complement factor I deficiency (CFID) is a rare immunodeficiency linked to issues with the complement factor I protein, leading to increased risk of severe infections, particularly from pneumococcus in infants.
- - A report discusses an otherwise healthy teenage boy who experienced respiratory failure due to pneumococcal pneumonia, indicating a severe inflammatory response.
- - Genetic analysis revealed he had two significant variants related to CFID: one from his mother that caused a premature stop in protein production and another deletion inherited from his father.
Article 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).
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Source |
|---|---|
| http://www.ncbi.nlm.nih.gov/pmc/articles/PMC9808552 | PMC |
| http://dx.doi.org/10.1101/mcs.a006239 | DOI Listing |
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