Evidence map›Paper›PMID 36577522›Full record

ArticleCold Spring Harbor molecular case studies2022

Rapid genome sequencing identifies novel variants in complement factor I.

Katherine M Rodriguez, Jordan Vaught, Michelle Dilley, Kataryzna Ellsworth, Alaina Heinen, Edsel M Abud, Yuzhou Zhang, Richard J H Smith, Robert Sheets, Bob Geng and 4 more

Open access · diamondAbstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in Cold Spring Harbor molecular case studies, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper, 1 of them a synthesis that pooled it.

0numbers the graph read from it
0cells of the map it votes in
1citing papers in PubMed, 1 pooled it
–field-weighted citation impact
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

1 citing paper in PubMed, 1 synthesis or guideline pooled it, 3 citations in OpenAlex.

  1. Pooled it
4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

14 authors at 4 institutions in 1 country.

Katherine M Rodriguez *Rady Children's Hospital, San Diego, California 92123, USA.ORCID 0000-0002-2892-5115
Jordan Vaught *Rady Children's Hospital, San Diego, California 92123, USA.
Michelle DilleyRady Children's Hospital, San Diego, California 92123, USA.
Kataryzna EllsworthRady Children's Institute for Genomic Medicine, San Diego, California 92123, USA.
Alaina HeinenRady Children's Institute for Genomic Medicine, San Diego, California 92123, USA.
Edsel M AbudDivision of Allergy, Immunology, and Rheumatology, Department of Pediatrics, University of California at San Diego, San Diego, California 92161, USA.
Yuzhou ZhangMolecular Otolaryngology and Renal Research Laboratories, University of Iowa, Iowa City, Iowa 52242, USA.
Richard J H SmithMolecular Otolaryngology and Renal Research Laboratories, University of Iowa, Iowa City, Iowa 52242, USA.
Robert SheetsRady Children's Hospital, San Diego, California 92123, USA.
Bob GengRady Children's Hospital, San Diego, California 92123, USA.
Hal M HoffmanRady Children's Hospital, San Diego, California 92123, USA.
H Michael WorthenRady Children's Hospital, San Diego, California 92123, USA.
David DimmockRady Children's Institute for Genomic Medicine, San Diego, California 92123, USA.
Nicole G CoufalRady Children's Hospital, San Diego, California 92123, USA.
University of California San Diego · USChildren’s Institute · USUniversity of Iowa · USScripps Health · US

Funding

ConProject-001U19HD077693 · NICHD · RADY PEDIATRIC GENOMICS & SYSTEMS MEDICINE INSTITUTE · PI KINGSMORE, STEPHEN FRANCIS · 2013 to 2018
$6.2M
C3 Glomerulopathy -- A Collaborative StudyR01DK110023 · NIDDK · UNIVERSITY OF IOWA · PI Patrick Breheny, Carla M Nester · 2017 to 2026
$5.6M
NICHD NIH HHS U19 HD077693NIDDK NIH HHS R01 DK110023
6 · The paper itself

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

Indexed as

Complement Factor IAdolescentChromosome MappingGenotypeHumansMaleComplement Factor Iatelectasiscoughelevated C-reactive protein levelelevated serum transaminases during infectionsexudative pleural effusionhyponatremialymphopeniamyocarditisnauseanormocytic anemiarespiratory failuresinus tachycardiaST segment elevationtension-type headacheunexplained fevers

Identifiers

PMID36577522
PMCPMC9808552
OpenAlexW4313311732

What OpenQuestion holds

Textmetadata
LicenceCC BY-NC
Read underepoch 390

Registered trials

None linked

Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.