Evidence map›Paper›PMID 38972567›Full record

ArticleThe Journal of pediatrics2024

Biallelic Loss of Function Variants in SENP7 Cause Immunodeficiency with Neurologic and Muscular Phenotypes.

Erica Sanford Kobayashi, Nava Shaul Lotan, Yael Dinur Schejter, Christine Makowski, Verena Kraus, Nanda Ramchandar, Vardiella Meiner, Isabelle Thiffault, Emily Farrow, Julie Cakici and 4 more

Abstract readCase Reports
PubMed Full text at PMC Publisher
In one paragraph

Article in The Journal of pediatrics, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

0numbers the graph read from it
0cells of the map it votes in
0citing papers in PubMed
–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

0 citing papers in PubMed.

No citing paper in PubMed yet.

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.

Erica Sanford KobayashiRady Children's Institute for Genomic Medicine, San Diego, CA; Division of Critical Care, Department of Pediatrics, Children's Hospital Orange County, Orange, CA.
Nava Shaul LotanDepartment of Genetics, Hadassah Medical Center, Jerusalem, Israel.
Yael Dinur SchejterDepartment of Genetics, Hadassah Medical Center, Jerusalem, Israel; Faculty of Medicine, Hebrew University of Jerusalem, Jerusalem, Israel; The Department of Bone Marrow Transplantation and Cancer Immunotherapy, Hadassah Medical Center, Jerusalem, Israel.
Christine MakowskiDivision of Pediatric Neurology, Developmental Medicine and Social Pediatrics, Department of Pediatrics, Munich University Hospital, Munich, Germany; Technical University of Munich, Munich, Germany; Department of Pediatrics, TUM School of Medicine, Munich, Germany.
Verena KrausTechnical University of Munich, Munich, Germany; Department of Pediatrics, TUM School of Medicine, Munich, Germany.
Nanda RamchandarDivision of Infectious Disease, Department of Pediatrics, University of California at San Diego, La Jolla, CA.
Vardiella MeinerDepartment of Genetics, Hadassah Medical Center, Jerusalem, Israel.
Isabelle ThiffaultChildren's Mercy Research Institute, Kansas City, MO.
Emily FarrowChildren's Mercy Research Institute, Kansas City, MO.
Julie CakiciHerbert Wertheim School of Public Health and Human Longevity Science, University of California, San Diego, San Diego, CA.
Stephen KingsmoreRady Children's Institute for Genomic Medicine, San Diego, CA.
Matias WagnerDivision of Pediatric Neurology, Developmental Medicine and Social Pediatrics, Department of Pediatrics, Munich University Hospital, Munich, Germany; Institute of Human Genetics, Klinikum rechts der Isar, School of Medicine, Technical University of Munich, Munich, Germany; Institute of Neurogenomics, Helmholtz Zentrum München, Neuherberg, Germany.
Nikolaus RieberTechnical University of Munich, Munich, Germany; Department of Pediatrics, TUM School of Medicine, Munich, Germany.
Matthew BainbridgeRady Children's Institute for Genomic Medicine, San Diego, CA. Electronic address: MBainbridge@rchsd.org.

Funding

ConProject-001U19HD077693 · NICHD · RADY PEDIATRIC GENOMICS & SYSTEMS MEDICINE INSTITUTE · PI KINGSMORE, STEPHEN FRANCIS · 2013 to 2018
$6.2M
Oligogenic Models of CardiomyopathyR01HL145175 · NHLBI · RADY PEDIATRIC GENOMICS & SYSTEMS MEDICINE INSTITUTE · PI BAINBRIDGE, MATTHEW NEIL · 2019 to 2022
$3.0M
Heartland Institute for Clinical and Translational ResearchTL1TR000120 · NCATS · UNIVERSITY OF KANSAS MEDICAL CENTER · PI BAROHN, RICHARD J. · 2012 to 2015
$549k
NCATS NIH HHS TL1 TR000120NHLBI NIH HHS R01 HL145175NICHD NIH HHS U19 HD077693
6 · The paper itself

Abstract

To evaluate a novel candidate disease gene, we engaged international collaborators and identified rare, biallelic, specifically homozygous, loss of function variants in SENP7 in 4 children from 3 unrelated families presenting with neurodevelopmental abnormalities, dysmorphism, and immunodeficiency. Their clinical presentations were characterized by hypogammaglobulinemia, intermittent neutropenia, and ultimately death in infancy for all 4 patients. SENP7 is a sentrin-specific protease involved in posttranslational modification of proteins essential for cell regulation, via a process referred to as deSUMOylation. We propose that deficiency of deSUMOylation may represent a novel mechanism of primary immunodeficiency.

Indexed as

Cysteine EndopeptidasesImmunologic Deficiency SyndromesChild, PreschoolEndopeptidasesFatal OutcomeFemaleHumansInfantLoss of Function MutationMalePhenotypeCysteine EndopeptidasesEndopeptidasesSENP7 protein, humandeSUMOylationexome sequencinggenome sequencingimmunodeficiencyinborn error of immunitySUMOylation

Identifiers

PMID38972567
PMCPMC11556246

What OpenQuestion holds

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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.