Evidence map›Paper›PMID 29018476›Full record

ArticleFrontiers in genetics2017

Recurrent and Prolonged Infections in a Child with a Homozygous

Maha Zaki, Michaela Thoenes, Amit Kawalia, Peter Nürnberg, Rolf Kaiser, Raoul Heller, Hanno J Bolz

Open access · goldAbstract read
In one paragraph

Article in Frontiers in genetics, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 29 papers.

0numbers the graph read from it
0cells of the map it votes in
29citing papers in PubMed
2.5field-weighted citation impact, top 10% of its field
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

29 citing papers in PubMed, 49 citations in OpenAlex.

  1. Trial
  2. Article
  3. How loss-of-function mutations inJournal of translational autoimmunity · 2026
    Review
  4. Review
  5. Article
  6. L-serine metabolic regulation and host respiratory homeostasis.Frontiers in cellular and infection microbiology · 2025
    Review
  7. Journal of medical genetics · 2024
    Article
  8. Article
  9. Review
  10. World journal of clinical pediatrics · 2023
    Article
  11. Article
  12. Article
  13. Article
  14. Review
  15. Article
  16. Article
  17. Review
  18. Review
  19. Article
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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

7 authors at 4 institutions in 2 countries.

Maha ZakiHuman Genetics and Genome Research Division, Clinical Genetics Department, National Research CentreCairo, Egypt.
Michaela ThoenesInstitute of Human Genetics, University Hospital of CologneCologne, Germany.
Amit KawaliaCologne Center for Genomics, University of CologneCologne, Germany.
Peter NürnbergCologne Center for Genomics, University of CologneCologne, Germany.
Rolf KaiserInstitute of Virology, University Hospital of CologneCologne, Germany.
Raoul HellerInstitute of Human Genetics, University Hospital of CologneCologne, Germany.
Hanno J BolzInstitute of Human Genetics, University Hospital of CologneCologne, Germany.
University Hospital Cologne · DECologne Excellence Cluster on Cellular Stress Responses in Aging Associated Diseases · DENational Research Centre · EGUniversity of Cologne · DE

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

In an Egyptian girl born to consanguineous parents, whole-exome sequencing (WES) identified a homozygous mutation in

Indexed as

consanguinityIFIH1immunodeficiencyinfectionloss-of-functionwhole-exome sequencing

Identifiers

PMID29018476
PMCPMC5614965
OpenAlexW2758704676

What OpenQuestion holds

Textmetadata
LicenceCC BY
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.