Evidence map›Paper›PMID 32305064›Full record

ArticleBMC pediatrics2020

Eosinophilic colitis in a boy with a novel XIAP mutation: a case report.

Jiamei Tang, Xiaoying Zhou, Lan Wang, Guorui Hu, Bixia Zheng, Chunli Wang, Yan Lu, Yu Jin, Hongmei Guo, Zhifeng Liu

Open access · goldAbstract readCase Reports
PubMed Full text at PMC Publisher
In one paragraph

Article in BMC pediatrics, 2020. 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
1.0field-weighted citation impact, top 24% 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, 6 citations in OpenAlex.

  1. Review
  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

10 authors at 2 institutions in 1 country.

Jiamei TangDepartment of Gastroenterology, Children's Hospital of Nanjing Medical University, No. 72 Guangzhou Road, Nanjing, Jiangsu Province, 210008, China.
Xiaoying ZhouDepartment of Gastroenterology, Children's Hospital of Nanjing Medical University, No. 72 Guangzhou Road, Nanjing, Jiangsu Province, 210008, China.
Lan WangDepartment of Gastroenterology, Children's Hospital of Nanjing Medical University, No. 72 Guangzhou Road, Nanjing, Jiangsu Province, 210008, China.
Guorui HuDepartment of Gastroenterology, Children's Hospital of Nanjing Medical University, No. 72 Guangzhou Road, Nanjing, Jiangsu Province, 210008, China.
Bixia ZhengNanjing Key Laboratory of pediatrics, Children's Hospital of Nanjing Medical University, No. 72 Guangzhou Road, Nanjing, Jiangsu Province, 210008, China.
Chunli WangNanjing Key Laboratory of pediatrics, Children's Hospital of Nanjing Medical University, No. 72 Guangzhou Road, Nanjing, Jiangsu Province, 210008, China.
Yan LuDepartment of Gastroenterology, Children's Hospital of Nanjing Medical University, No. 72 Guangzhou Road, Nanjing, Jiangsu Province, 210008, China.
Yu JinDepartment of Gastroenterology, Children's Hospital of Nanjing Medical University, No. 72 Guangzhou Road, Nanjing, Jiangsu Province, 210008, China.
Hongmei GuoDepartment of Gastroenterology, Children's Hospital of Nanjing Medical University, No. 72 Guangzhou Road, Nanjing, Jiangsu Province, 210008, China.
Zhifeng LiuDepartment of Gastroenterology, Children's Hospital of Nanjing Medical University, No. 72 Guangzhou Road, Nanjing, Jiangsu Province, 210008, China. zfliu@njmu.edu.cn.
Second Affiliated Hospital of Nanjing Medical University · CNNanjing Medical University · CN

Funding

National Natural Science Foundation of China 81570470
6 · The paper itself

Abstract

backgroundX-linked inhibitor of apoptosis (XIAP) deficiency is a rare primary immunodeficiency disease characterized by haemophagocytic lymphohistiocytosis, recurrent splenomegaly and inflammatory bowel disease (IBD). The only curative treatment is haematopoietic stem cell transplant (HSCT). CASE PRESENTATION: Here, we report the case of a 22-month-old male with a long history of abdominal distension and anaemia. Clinical and laboratory findings were consistent with eosinophilic colitis. To identify the underlying disease, we performed exome sequencing, which showed an unreported frameshift mutation in the XIAP gene.

conclusionWe present eosinophilic colitis as the initial manifestation of XIAP deficiency for the first time in this article, which expands the mutation spectrum and phenotype of this disease.

Indexed as

ColitisInflammatory Bowel DiseasesLymphohistiocytosis, HemophagocyticHumansInfantMaleMutationPhenotypeX-Linked Inhibitor of Apoptosis ProteinXIAP protein, humanX-Linked Inhibitor of Apoptosis ProteinEosinophilic colitisGene detectionXIAP deficiency

Identifiers

PMID32305064
PMCPMC7165398
OpenAlexW3016557256

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.