Evidence map›Paper›PMID 33912197›Full record

ArticleFrontiers in immunology2021

Case Report: Infantile-Onset Fulminant Type 1 Diabetes Mellitus Caused by Novel Compound Heterozygous

Eriko Totsune, Tomohiro Nakano, Kunihiko Moriya, Daichi Sato, Dai Suzuki, Akinobu Miura, Saori Katayama, Hidetaka Niizuma, Junko Kanno, Menno C van Zelm and 4 more

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

Article in Frontiers in immunology, 2021. 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
0.6field-weighted citation impact, top 32% 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, 3 citations in OpenAlex.

  1. Pulmonary infection caused byTranslational pediatrics · 2026
    Article
  2. Early-Onset Diabetes in an Infant with a Novel Frameshift Mutation in LRBA.International journal of environmental research and public health · 2022
    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

14 authors at 3 institutions in 2 countries.

Eriko TotsuneDepartment of Pediatrics, Tohoku University Graduate School of Medicine, Sendai, Japan.
Tomohiro NakanoDepartment of Pediatrics, Tohoku University Graduate School of Medicine, Sendai, Japan.
Kunihiko MoriyaDepartment of Pediatrics, Tohoku University Graduate School of Medicine, Sendai, Japan.
Daichi SatoDepartment of Pediatrics, Tohoku University Graduate School of Medicine, Sendai, Japan.
Dai SuzukiDepartment of Pediatrics, Tohoku University Graduate School of Medicine, Sendai, Japan.
Akinobu MiuraDepartment of Pediatrics, Tohoku University Graduate School of Medicine, Sendai, Japan.
Saori KatayamaDepartment of Pediatrics, Tohoku University Graduate School of Medicine, Sendai, Japan.
Hidetaka NiizumaDepartment of Pediatrics, Tohoku University Graduate School of Medicine, Sendai, Japan.
Junko KannoDepartment of Pediatrics, Tohoku University Graduate School of Medicine, Sendai, Japan.
Menno C van ZelmDepartment of Immunology and Pathology, Monash University and Alfred Hospital, Melbourne, VIC, Australia.
Kohsuke ImaiDepartment of Community Pediatrics, Perinatal and Maternal Medicine, Tokyo Medical and Dental University, Tokyo, Japan.
Hirokazu KaneganeDepartment of Child Health and Development, Graduate School of Medical and Dental Sciences, Tokyo Medical and Dental University (TMDU), Tokyo, Japan.
Yoji SasaharaDepartment of Pediatrics, Tohoku University Graduate School of Medicine, Sendai, Japan.
Shigeo KureDepartment of Pediatrics, Tohoku University Graduate School of Medicine, Sendai, Japan.
Tohoku University · JPTokyo Medical and Dental University · JPMonash University · AU

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Lipopolysaccharide-responsive beige-like anchor (LRBA) deficiency is a subtype of common variable immune deficiency (CVID). Numerous case reports and cohort studies have described a broad spectrum of clinical manifestations and variable disease phenotypes, including immune dysregulation, enteropathy, and recurrent infections. Although LRBA deficiency is an autosomal recessive primary immunodeficiency resulting in a phenotype similar to CVID, it is a monogenic disease and separate from CVID. Recently, in a report of monogenic primary immunodeficiency disorder associated with CVID and autoimmunity, the most common mutated gene was

Indexed as

Gene DeletionHeterozygoteAdaptor Proteins, Signal TransducingAutoimmunityCommon Variable ImmunodeficiencyDiabetes Mellitus, Type 1Diagnosis, DifferentialFemaleHigh-Throughput Nucleotide SequencingHumansInfantPedigreePhenotypePrimary Immunodeficiency DiseasesAdaptor Proteins, Signal TransducingLRBA protein, humanCTLA-4 deficiencyinfantile-onset fulminant type 1 diabetes mellitusLRBA deficiencyrefractory autoimmune cytopeniatransposable elements (TE)

Identifiers

PMID33912197
PMCPMC8072023
OpenAlexW3154317136

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.