Evidence map›Paper›PMID 36335528›Full record

ReviewMycopathologia2023

Chinese Pedigree of Chronic Mucocutaneous Candidiasis Due to STAT1 Gain-of-Function Mutation: A Case Study and Literature Review.

Xu Wang, Weiwei Zhao, Feng Chen, Peiru Zhou, Zhimin Yan

Abstract readCase ReportsReview
PubMed Publisher
In one paragraph

Review in Mycopathologia, 2023. 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 44% 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. Review
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

5 authors at 2 institutions in 1 country.

Xu WangDepartment of Oral Medicine, Peking University School and Hospital of Stomatology & National Center of Stomatology & National Clinical Research Center for Oral Diseases & National Engineering Research Center of Oral Biomaterials and Digital Medical Devices, 22 ZhongguancunNandajie, Haidian District, Beijing, 100081, People's Republic of China.
Weiwei ZhaoDepartment of Oral Medicine, Peking University School and Hospital of Stomatology & National Center of Stomatology & National Clinical Research Center for Oral Diseases & National Engineering Research Center of Oral Biomaterials and Digital Medical Devices, 22 ZhongguancunNandajie, Haidian District, Beijing, 100081, People's Republic of China.
Feng ChenCentral Laboratory, Peking University School and Hospital of Stomatology, Beijing, 100081, People's Republic of China.
Peiru ZhouDepartment of Oral Medicine, Peking University School and Hospital of Stomatology & National Center of Stomatology & National Clinical Research Center for Oral Diseases & National Engineering Research Center of Oral Biomaterials and Digital Medical Devices, 22 ZhongguancunNandajie, Haidian District, Beijing, 100081, People's Republic of China. zhoupeiru1989@163.com.
Zhimin YanDepartment of Oral Medicine, Peking University School and Hospital of Stomatology & National Center of Stomatology & National Clinical Research Center for Oral Diseases & National Engineering Research Center of Oral Biomaterials and Digital Medical Devices, 22 ZhongguancunNandajie, Haidian District, Beijing, 100081, People's Republic of China. yzhimin96@163.com.
Peking University · CNNational Clinical Research Center for Digestive Diseases · CN

Funding

Beijing Natural Science Foundation 7204330National Natural Science Foundation of China 81570985National Natural Science Foundation of China 82170967
6 · The paper itself

Abstract

objectiveTo further elucidate the clinical, immunological and genetic features of chronic mucocutaneous candidiasis (CMC) due to STAT1 GOF mutation in the Chinese population.

methodsClinical data for a proband were collected, and pedigree analyses were performed. Whole-exome sequencing and targeted Sanger sequencing were conducted to explore genetic factors of a Chinese pedigree involving inherited CMC.

resultsAn autosomal dominant CMC pedigree was identified, and both the proband and his father had mucocutaneous Candida infections without involvement of other systems. A rare mutation (c.T1175C) in STAT1 was detected in this CMC pedigree. Multiple sequence alignment revealed that the amino acid position of this mutation (p.M392T) is evolutionarily conserved in vertebrate species. Serum IFN-α was elevated in patients harbouring the mutation. A total of 10 publications reporting 26 CMC patients with STAT1 GOF mutations were retrieved by literature review, and the most common mutation found in previously reported Chinese patients is T385M in the DNA-binding domain.

conclusionsSTAT1 GOF mutation at c.T1175C (p.M392T) may lead to mucocutaneous Candida infections and an increase in serum IFN-α. T385M in the DNA-binding domain is the most common STAT1 GOF mutation found in the Chinese population.

Indexed as

Candidiasis, Chronic MucocutaneousDNAEast Asian PeopleGain of Function MutationHumansInterferon-alphaMutationPedigreeSTAT1 Transcription FactorDNAInterferon-alphaSTAT1 protein, humanSTAT1 Transcription FactorChineseChronic mucocutaneous candidiasis (CMC)Gain-of-function (GOF) mutationSignal transducer and activator of transcription 1 (STAT1)

Identifiers

PMID36335528
OpenAlexW4308294081

What OpenQuestion holds

Textmetadata
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.