Evidence map›Paper›PMID 31787977›Full record

ArticleFrontiers in immunology2019

Chronic Intestinal Pseudo-Obstruction and Lymphoproliferative Syndrome as a Novel Phenotype Associated With Tetratricopeptide Repeat Domain 7A Deficiency.

Marie-Thérèse El-Daher, Julie Lemale, Julie Bruneau, Claire Leveau, Frédéric Guerin, Nathalie Lambert, Jean-Sébastien Diana, Bénédicte Neven, Fernando E Sepulveda, Aurore Coulomb-L'Hermine and 4 more

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PubMed Full text at PMC Publisher
In one paragraph

Article in Frontiers in immunology, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 6 papers.

0numbers the graph read from it
0cells of the map it votes in
6citing papers in PubMed
0.6field-weighted citation impact, top 28% 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

6 citing papers in PubMed, 13 citations in OpenAlex.

  1. Review
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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

14 authors at 4 institutions in 1 country.

Marie-Thérèse El-DaherLaboratory of Normal and Pathological Homeostasis of the Immune System, INSERM UMR 1163, Paris, France.
Julie LemalePediatric Nutrition and Gastroenterology Department, Trousseau Hospital, Assistance Publique-Hôpitaux de Paris, Sorbonne Université, Paris, France.
Julie BruneauImagine Institute, Université de Paris, Paris, France.
Claire LeveauLaboratory of Normal and Pathological Homeostasis of the Immune System, INSERM UMR 1163, Paris, France.
Frédéric GuerinLaboratory of Normal and Pathological Homeostasis of the Immune System, INSERM UMR 1163, Paris, France.
Nathalie LambertCenter for the Study of Primary Immunodeficiencies, Necker Enfants Malades Hospital, Assistance Publique des Hôpitaux de Paris, Paris, France.
Jean-Sébastien DianaPediatric Hematology Department, Hôpital Necker-Enfants Malades, Assistance Publique-Hôpitaux de Paris, Paris, France; INSERM UMR 1163, Paris, France.
Bénédicte NevenPediatric Hematology Department, Hôpital Necker-Enfants Malades, Assistance Publique-Hôpitaux de Paris, Paris, France; INSERM UMR 1163, Paris, France.
Fernando E SepulvedaLaboratory of Normal and Pathological Homeostasis of the Immune System, INSERM UMR 1163, Paris, France.
Aurore Coulomb-L'HermineDepartment of Pathology, Hôpital A Trousseau, Assistance-Publique des Hôpitaux de Paris, Sorbonne Université, Paris, France.
Thierry MolinaImagine Institute, Université de Paris, Paris, France.
Capucine PicardImagine Institute, Université de Paris, Paris, France.
Alain FischerImagine Institute, Université de Paris, Paris, France.
Geneviève de Saint BasileLaboratory of Normal and Pathological Homeostasis of the Immune System, INSERM UMR 1163, Paris, France.
Hôpital Necker-Enfants Malades · FRInserm · FRSorbonne Université · FRCentre National de la Recherche Scientifique · FR

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Mutations in the tetratricopeptide repeat domain 7A (TTC7A) gene cause very early onset inflammatory bowel diseases (VOIBD) or multiple intestinal atresia associated with immune deficiency of various severities, ranging from combined immune deficiency to mild lymphopenia. In this manuscript, we report the clinical, biological and molecular features of a patient born from consanguineous parents, presenting with recurrent lymphoproliferative syndrome and pan-hypergammaglobulinemia associated with chronic intestinal pseudo obstruction (CIPO). Genetic screening revealed the novel c.974G>A (p.R325Q) mutation in homozygosity in the

Indexed as

Protein DeficiencyAnimalsCells, CulturedChronic DiseaseConsanguinityFemaleHumansInfantIntestinal Pseudo-ObstructionLymphoproliferative DisordersMaleMiceProteinsProteinsTTC7A protein, humanfsn mouseintestinal pseudo-obstructionlymphoproliferative syndromemutant's cell phenotypetetratricopeptide repeat domain 7A

Identifiers

PMID31787977
PMCPMC6853864
OpenAlexW2987220579

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.