Evidence map›Paper›PMID 25804906›Full record

ArticleHuman pathology2015

Loss of ADAM17 is associated with severe multiorgan dysfunction.

Robert H J Bandsma, Harry van Goor, Michael Yourshaw, Rudolf K Horlings, Marcel F Jonkman, Elisabeth H Schölvinck, Arend Karrenbeld, Rene Scheenstra, Martin Kömhoff, Patrick Rump and 5 more

Abstract readCase Reports
In one paragraph

Article in Human pathology, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 26 papers.

0numbers the graph read from it
0cells of the map it votes in
26citing papers in PubMed
1.9field-weighted citation impact, top 14% 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

26 citing papers in PubMed, 41 citations in OpenAlex.

  1. Review
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  6. Cellular and molecular basis of proximal small intestine disorders.Nature reviews. Gastroenterology & hepatology · 2024
    Review
  7. Article
  8. Article
  9. Review
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  11. Review
  12. Importance of Efferocytosis in COVID-19 Mortality.Infection and drug resistance · 2022
    Review
  13. Review
  14. Review
  15. Article
  16. Contribution of ADAM17 and related ADAMs in cardiovascular diseases.Cellular and molecular life sciences : CMLS · 2021
    Review
  17. Article
  18. Article
  19. Review
  20. 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

15 authors at 6 institutions in 3 countries.

Robert H J BandsmaThe Division of Pediatric Gastroenterology, Beatrix Children's Hospital, University Medical Center Groningen, University of Groningen, Hanzeplein 1, 9700 RB, Groningen, the Netherlands. Electronic address: r.h.j.bandsma@umcg.nl.
Harry van GoorDepartment of Pathology and Laboratory Medicine, University Medical Center Groningen, University of Groningen, Hanzeplein 1, 9700 RB Groningen, the Netherlands.
Michael YourshawDepartments of Human Genetics, Pathology and Laboratory Medicine David Geffen School of Medicine, University of California Los Angeles, 10833 Le Conte Ave, Los Angeles, CA 90095, USA.
Rudolf K HorlingsDepartment of Dermatology, University Medical Center Groningen, University of Groningen, Hanzeplein 1, 9700 RB Groningen, the Netherlands.
Marcel F JonkmanDepartment of Dermatology, University Medical Center Groningen, University of Groningen, Hanzeplein 1, 9700 RB Groningen, the Netherlands.
Elisabeth H SchölvinckDivision of Pediatric Infectious Diseases, Beatrix Children's Hospital, University Medical Center Groningen, University of Groningen, Hanzeplein 1, 9700 RB Groningen, the Netherlands.
Arend KarrenbeldDepartment of Pathology and Laboratory Medicine, University Medical Center Groningen, University of Groningen, Hanzeplein 1, 9700 RB Groningen, the Netherlands.
Rene ScheenstraThe Division of Pediatric Gastroenterology, Beatrix Children's Hospital, University Medical Center Groningen, University of Groningen, Hanzeplein 1, 9700 RB, Groningen, the Netherlands.
Martin KömhoffDivision of Nephrology, Beatrix Children's Hospital, University Medical Center Groningen, University of Groningen, Hanzeplein 1, 9700 RB Groningen, the Netherlands.
Patrick RumpDepartment of Genetics, University Medical Center Groningen, University of Groningen, Hanzeplein 1, 9700 RB Groningen, the Netherlands.
Yvonne Koopman-KeeminkThe Department of Pediatrics, Hagaziekenhuis Juliana Kinderziekenhuis, Sportlaan 600, 2566 MJ The Hague, the Netherlands.
Stanley F NelsonDepartments of Human Genetics, Pathology and Laboratory Medicine David Geffen School of Medicine, University of California Los Angeles, 10833 Le Conte Ave, Los Angeles, CA 90095, USA.
Johanna C EscherThe Department of Pediatric Gastroenterology, Sophia Children's Hospital-Erasmus Medical Center, Dr. Molewaterplein 60, 3015 GJ Rotterdam, the Netherlands.
Ernest CutzThe Division of Pathology, The Hospital for Sick Children, 555 University Avenue, Toronto M5G 1X8, Canada.
Martín G MartínDepartments of Human Genetics, Pathology and Laboratory Medicine David Geffen School of Medicine, University of California Los Angeles, 10833 Le Conte Ave, Los Angeles, CA 90095, USA.
University of Groningen · NLUniversity of California, Los Angeles · USErasmus MC - Sophia Children’s Hospital · NLHospital for Sick Children · CAJuliana Kinderziekenhuis · NLUniversity Medical Center Groningen · NL

Funding

Neurogenin3 and Intestinal FailureR01DK083762 · NIDDK · UNIVERSITY OF CALIFORNIA LOS ANGELES · PI MARTIN, MARTIN G · 2009 to 2012
$1.6M
NIDDK NIH HHS DK083762NIDDK NIH HHS R01 DK083762
6 · The paper itself

Abstract

ADAM metallopeptidase domain 17 (ADAM17) is responsible for processing large numbers of proteins. Recently, 1 family involving 2 patients with a homozygous mutation in ADAM17 were described, presenting with skin lesions and diarrhea. In this report, we describe a second family confirming the existence of this syndrome. The proband presented with severe diarrhea, skin rash, and recurrent sepsis, eventually leading to her death at the age of 10 months. We performed exome sequencing and detailed pathological and immunological investigations. We identified a novel homozygous frameshift mutation in ADAM17 (NM_003183.4:c.308dupA) leading to a premature stop codon. CD4(+) and CD8(+) T-cell stimulation assays showed severely diminished tumor necrosis factor-α and interleukin-2 production. Skin biopsies indicated a focal neutrophilic infiltrate and spongiotic dermatitis. Interestingly, the patient developed unexplained systolic hypertension and nonspecific hepatitis with apoptosis. This report provides evidence for an important role of ADAM17 in human immunological response and underscores its multiorgan involvement.

Indexed as

Genetic Predisposition to DiseaseADAM17 ProteinADAM ProteinsFatal OutcomeFemaleFrameshift MutationHomozygoteHumansInfantMultiple Organ FailureTumor Necrosis Factor-alphaADAM17 ProteinADAM17 protein, humanADAM ProteinsTumor Necrosis Factor-alphaADAM17Congenital enteropathyExome sequencingImmunodeficiencyInflammation

Identifiers

PMID25804906
PMCPMC6044207
OpenAlexW2093208243

What OpenQuestion holds

Textmetadata
LicenceTDM
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.