Evidence map›Paper›PMID 34095032›Full record

ArticleFrontiers in pediatrics2021

Immune Dysregulation Mimicking Systemic Lupus Erythematosus in a Patient With Lysinuric Protein Intolerance: Case Report and Review of the Literature.

Josefina Longeri Contreras, Mabel A Ladino, Katherine Aránguiz, Gonzalo P Mendez, Zeynep Coban-Akdemir, Bo Yuan, Richard A Gibbs, Lindsay C Burrage, James R Lupski, Ivan K Chinn and 3 more

Open access · goldAbstract readCase Reports
In one paragraph

Article in Frontiers in pediatrics, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 20 papers.

0numbers the graph read from it
0cells of the map it votes in
20citing papers in PubMed
2.6field-weighted citation impact, top 12% 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

20 citing papers in PubMed, 26 citations in OpenAlex.

  1. Review
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  9. Efferocytosis in Homeostasis.Advances in experimental medicine and biology · 2025
    Review
  10. Article
  11. Article
  12. Article
  13. [Enteral nutrition support for lysinuric protein intolerance: a case report and literature review].Zhongguo dang dai er ke za zhi = Chinese journal of contemporary pediatrics · 2023
    Review
  14. Lysinuric protein intolerance caused by a homozygousMolecular genetics and metabolism reports · 2023
    Article
  15. Article
  16. Article
  17. Article
  18. A surprising cause of proteinuria: Answers.Pediatric nephrology (Berlin, Germany) · 2022
    Article
  19. Centers for Mendelian Genomics: A decade of facilitating gene discovery.Genetics in medicine : official journal of the American College of Medical Genetics · 2022
    Review
  20. 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

13 authors at 10 institutions in 2 countries.

Josefina Longeri ContrerasFacultad de Medicina Universidad del Desarrollo-Clínica Alemana, Santiago, Chile.
Mabel A LadinoUniversidad de Chile, Reumatóloga Pediátrica Hospital San Juan de Dios, Santiago, Chile.
Katherine AránguizUnidad de Inmunología y Reumatología Hospital Luis Calvo Mackenna, Providencia, Chile.
Gonzalo P MendezPatológo Renal, Departamento de Anatomía Patológica, Facultad de Medicina, Pontificia Universidad Católica de Chile, Santiago, Chile.
Zeynep Coban-AkdemirDepartment of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, United States.
Bo YuanDepartment of Laboratories, Seattle Children's Hospital, Seattle, WA, United States.
Richard A GibbsSequencing Center, Baylor College of Medicine, Houston, TX, United States.
Lindsay C BurrageDepartment of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, United States.
James R LupskiDepartment of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, United States.
Ivan K ChinnTexas Children's Hospital, Houston, TX, United States.
Tiphanie P VogelTexas Children's Hospital, Houston, TX, United States.
Jordan S OrangeDepartment of Pediatrics, Vagelos College of Physicians and Surgeons, New York Presbyterian Morgan Stanley Children's Hospital, Columbia University, New York, NY, United States.
M Cecilia PoliFacultad de Medicina Universidad del Desarrollo-Clínica Alemana, Santiago, Chile.
Baylor College of Medicine · USTexas Children's Hospital · USHospital Luis Calvo Mackenna · CLHospital Roberto del Rio · CLMorgan Stanley Children's Hospital · USPontificia Universidad Católica de Chile · CLThe University of Texas Health Science Center at Houston · USUniversidad del Desarrollo · CLUniversity of Chile · CLUniversity of Washington · US

Funding

Baylor-Johns Hopkins Center for Mendelian GeneticsUM1HG006542 · NHGRI · JOHNS HOPKINS UNIVERSITY · PI VALLE, DAVID · 2016 to 2020
$14.5M
GENETIC, IMMUNOLOGIC AND MECHANISTIC BASIS OF HUMAN NK CELL DEFICIENCYR01AI120989 · NIAID · COLUMBIA UNIVERSITY HEALTH SCIENCES · PI ORANGE, JORDAN SCOTT · 2016 to 2025
$7.7M
STRUCTURAL VARIATION IN NEUROLOGICAL DISEASER35NS105078 · NINDS · BAYLOR COLLEGE OF MEDICINE · PI LUPSKI, JAMES R. · 2018 to 2025
$6.0M
NHGRI NIH HHS UM1 HG006542NIAID NIH HHS R01 AI120989NINDS NIH HHS R35 NS105078
6 · The paper itself

Abstract

Lysinuric protein intolerance (LPI) is an inborn error of metabolism caused by defective transport of cationic amino acids in epithelial cells of intestines, kidneys and other tissues as well as non-epithelial cells including macrophages. LPI is caused by biallelic, pathogenic variants in

Indexed as

case reporthemophagocytic lymphohistiocytosisimmune mediated glomerulonephritislysinuric protein intolerancesystemic lupus erythematosussystemic lupus–erythematosus

Identifiers

PMID34095032
PMCPMC8172984
OpenAlexW3164907972

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.