Evidence map›Paper›PMID 39707011›Full record

ArticleMycopathologia2024

Recurrent Enteritis and Intestinal Obstruction in a Patient with Chronic Mucocutaneous Candidiasis due to STAT1 Gain-of-Function Mutation.

Mingfen Luo, Huan Huang, Hanhui Nie, Yinghui Liu, Yangxia Chen, Fuying Zheng, Liyan Xi, Hongfang Liu

Abstract readCase Reports
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In one paragraph

Article in Mycopathologia, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 3 papers, 2 of them syntheses that pooled it.

0numbers the graph read from it
0cells of the map it votes in
3citing papers in PubMed, 2 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

3 citing papers in PubMed, 2 syntheses or guidelines pooled it.

  1. Pooled it
  2. Pooled it
  3. 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

8 authors.

Mingfen LuoDermatology Hospital, Southern Medical University, Guangzhou, China.
Huan HuangDermatology Hospital, Southern Medical University, Guangzhou, China.
Hanhui NieDermatology Hospital, Southern Medical University, Guangzhou, China.
Yinghui LiuDermatology Hospital, Southern Medical University, Guangzhou, China.
Yangxia ChenDermatology Hospital, Southern Medical University, Guangzhou, China.
Fuying ZhengDepartment of Gastroenterology, Nanfang Hospital, Southern Medical University, Guangzhou, Guangdong, China.
Liyan XiDermatology Hospital, Southern Medical University, Guangzhou, China.
Hongfang LiuDermatology Hospital, Southern Medical University, Guangzhou, China. sunflower1977@126.com.

Funding

National Natural Science Foundation of China 81601746National Natural Science Foundation of China 81873960National Natural Science Foundation of China 81902042
6 · The paper itself

Abstract

We presented a case of chronic mucocutaneous candidiasis (CMC) due to STAT1 GOF mutation with recurrent enteritis and intestinal obstruction. A 33-year-old woman complained of recurrent oral erosion and finger (toe) nails damage for over 30 years. Candida albicans were cultured from the oral mucosa and nails. Sanger sequencing revealed a gain-of-function mutation in STAT1 (c.A1159 G, p.T387A). Since the age of 37, she developed recurrent enteritis and intestinal obstruction. Laboratory examinations revealed an increased pSTAT1 protein expression and a decreased proportion of Th17 cells in peripheral blood lymphocyte (PBMC), with a high expression of pSTAT1 and scarce expression of IL17A observed in intestinal immunohistochemistry. Intestinal obstruction had not previously been reported as the main clinical manifestation in STAT1 GOF patients. We speculated that the low levels of IL17A impaired the intestinal barrier, which might lead to gastrointestinal disorders in this patient. This case expanded the clinical phenotype of heterozygous STAT1 GOF patients.

Indexed as

Candidiasis, Chronic MucocutaneousEnteritisGain of Function MutationInterleukin-17Intestinal ObstructionSTAT1 Transcription FactorTh17 CellsAdultCandida albicansFemaleHumansImmunohistochemistryLeukocytes, MononuclearMouth MucosaRecurrenceSequence Analysis, DNAIL17A protein, humanInterleukin-17STAT1 protein, humanSTAT1 Transcription FactorChronic mucocutaneous candidiasisEnteritisIntestinal obstructionpSTAT1STAT1 GOF mutation

Identifiers

PMID39707011

What OpenQuestion holds

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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.