Evidence map›Paper›PMID 35498362›Full record

ArticleClinical case reports2022

A child with bronchiectasis, chronic mucocutaneous candidiasis, and hypothyroidism secondary to STAT1 gain-of-function mutation: A case report and review of the literature.

Dhuha Alidrisi, Lama Maksood, Wed Alqahtani, Faisal Minshawi, Abdullah Aburziza, Waleed F Janem, Mohammed A Almatrafi

Open access · goldAbstract readCase Reports
In one paragraph

Article in Clinical case reports, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 2 papers.

0numbers the graph read from it
0cells of the map it votes in
2citing papers in PubMed
0.3field-weighted citation impact, top 46% 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

2 citing papers in PubMed, 4 citations in OpenAlex.

  1. Article
  2. Article
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 2 institutions in 1 country.

Dhuha AlidrisiDepartment of Pediatrics Security Forces Hospital Makkah Saudi Arabia.
Lama MaksoodMedical College of Umm Al-Qura University Makkah Saudi Arabia.
Wed AlqahtaniMedical College of Umm Al-Qura University Makkah Saudi Arabia.ORCID https://orcid.org/0000-0002-3445-8082
Faisal MinshawiDepartment of Laboratory Medicine Faculty of Applied Medical Sciences Umm Al-Qura University Makkah Saudi Arabia.ORCID https://orcid.org/0000-0003-4677-9614
Abdullah AburzizaDepartment of Pediatrics Umm Al-Qura University Makkah Saudi Arabia.
Waleed F JanemDepartment of Pediatrics Security Forces Hospital Makkah Saudi Arabia.
Mohammed A AlmatrafiDepartment of Pediatrics Umm Al-Qura University Makkah Saudi Arabia.ORCID https://orcid.org/0000-0003-1520-5482
Umm al-Qura University · SASecurity Forces Hospital · SA

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

STAT 1 GOF mutations are a rare cause of childhood primary immunodeficiency. Recurrent mucocutaneous candidiasis, chest infections, and autoimmune disease are all classic phenotype presentations. Rapid identification and diagnosis of this debilitating disease using whole exon sequencing may improve outcomes and minimize long-term sequelae.

Indexed as

immunodeficiencymucocutaneous candidiasisSTAT 1

Identifiers

PMID35498362
PMCPMC9040560
OpenAlexW4224882704

What OpenQuestion holds

Textmetadata
LicenceCC BY-NC-ND
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.