Evidence map›Paper›PMID 36875114›Full record

ArticleFrontiers in immunology2023

Case report: Discovery of a

Elise M N Ferré, Yunting Yu, Vasileios Oikonomou, Anna Hilfanova, Chyi-Chia R Lee, Lindsey B Rosen, Peter D Burbelo, Sara E Vazquez, Mark S Anderson, Amisha Barocha and 5 more

2 registry-linked trialsOpen access · goldAbstract readCase Reports
PubMed Full text at PMC Publisher
In one paragraph

Article in Frontiers in immunology, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. It is linked to 2 registered trials, which are not on this map. Cited by 2 papers.

0numbers the graph read from it
0cells of the map it votes in
2citing papers in PubMed
0.8field-weighted citation impact, top 26% 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.

NCT01386437 recruitingnot on this map

The Natural History and Pathogenesis of Human Fungal Infections

TypeobservationalSponsorNational Institute of Allergy and Infectious Diseases (NIAID)Ran2012Enrolled1,200ConditionsChronic Mucocutaneous Candidiasis, Invasive Aspergillosis, CARD9, APECED
NCT03206099 recruitingnot on this map

NIAID Centralized Sequencing Protocol

TypeobservationalSponsorNational Institute of Allergy and Infectious Diseases (NIAID)Ran2017 to 2029Enrolled20,000ConditionsAtopy, Primary Immunodeficiency, Autoimmunity, Autoinflammation
3 · Its place in the literature

Who cites it

2 citing papers in PubMed, 4 citations in OpenAlex.

  1. Article
  2. 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 7 institutions in 2 countries.

Elise M N FerréLaboratory of Clinical Immunology and Microbiology (LCIM), National Institute of Allergy and Infectious Diseases (NIAID), National Institutes of Health (NIH), Bethesda, MD, United States.
Yunting YuDivision of Intramural Research, National Institute of Allergy and Infectious Diseases (NIAID), National Institutes of Health (NIH), Bethesda, MD, United States.
Vasileios OikonomouLaboratory of Clinical Immunology and Microbiology (LCIM), National Institute of Allergy and Infectious Diseases (NIAID), National Institutes of Health (NIH), Bethesda, MD, United States.
Anna HilfanovaDepartment of Pediatrics, Immunology, Infectious and Rare Diseases, Medical School of the International European University, Kyiv, Ukraine.
Chyi-Chia R LeeLaboratory of Pathology, Clinical Center for Cancer Research, National Cancer Institute, National Institutes of Health (NIH), Bethesda, MD, United States.
Lindsey B RosenLaboratory of Clinical Immunology and Microbiology (LCIM), National Institute of Allergy and Infectious Diseases (NIAID), National Institutes of Health (NIH), Bethesda, MD, United States.
Peter D BurbeloNational Institute of Dental and Craniofacial Research, National Institutes of Health (NIH), Bethesda, MD, United States.
Sara E VazquezDiabetes Center, University of California, San Francisco, San Francisco, CA, United States.
Mark S AndersonDiabetes Center, University of California, San Francisco, San Francisco, CA, United States.
Amisha BarochaLaboratory of Asthma and Lung Inflammation, National Heart Lung and Blood Institute (NHLBI), National Institutes of Health (NIH), Bethesda, MD, United States.
Theo HellerLiver Diseases Branch, National Institute of Diabetes and Digestive and Kidney Disease, National Institutes of Health, Bethesda, MD, United States.
Ariane SoldatosNational Institute of Neurological Disorders and Stroke (NINDS), National Institutes of Health (NIH), Bethesda, MD, United States.
Steven M HollandLaboratory of Clinical Immunology and Microbiology (LCIM), National Institute of Allergy and Infectious Diseases (NIAID), National Institutes of Health (NIH), Bethesda, MD, United States.
Magdalena A WalkiewiczDivision of Intramural Research, National Institute of Allergy and Infectious Diseases (NIAID), National Institutes of Health (NIH), Bethesda, MD, United States.
Michail S LionakisLaboratory of Clinical Immunology and Microbiology (LCIM), National Institute of Allergy and Infectious Diseases (NIAID), National Institutes of Health (NIH), Bethesda, MD, United States.
National Institutes of Health · USNational Institute of Allergy and Infectious Diseases · USUniversity of California, San Francisco · USEuropean University · UANational Institute of Dental and Craniofacial Research · USNational Institute of Diabetes and Digestive and Kidney Diseases · USNational Institute of Neurological Disorders and Stroke · US

Funding

Adeno-associated Virus Biology And Utilization For Gene TransferZIADE000695 · NIDCR · NATIONAL INSTITUTE OF DENTAL & CRANIOFACIAL RESEARCH · PI CHIORINI, JAY · 2009 to 2025
$36.6M
Central Sequencing InitiativeZICAI001244 · NIAID · NATIONAL INSTITUTE OF ALLERGY AND INFECTIOUS DISEASES · PI HOLLAND, STEVEN · 2019 to 2025
$24.0M
6 · The paper itself

Abstract

Introduction: Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED) and poikiloderma in association with tendon contractures, myopathy, and pulmonary fibrosis (POIKTMP) are rare inherited syndromes resulting from biallelic pathogenic variants in Methods: Through informed consent and enrollment onto IRB-approved protocols (NCT01386437, NCT03206099) the patient underwent a comprehensive clinical evaluation at the NIH Clinical Center alongside exome sequencing, copy number variation analysis, autoantibody surveys, peripheral blood immunophenotyping, and salivary cytokine analyses. Results: We report the presentation and evaluation of a 9-year-old boy who was referred to the NIH Clinical Center with an APECED-like clinical phenotype that included the classic APECED dyad of CMC and hypoparathyroidism. He was found to meet clinical diagnostic criteria for POIKTMP featuring poikiloderma, tendon contractures, myopathy, and pneumonitis, and exome sequencing revealed a Discussion: This report expands upon the available genetic, clinical, autoantibody, immunological, and treatment response information on POIKTMP.

Indexed as

DNA Copy Number VariationsPolyendocrinopathies, AutoimmuneAutoantibodiesAzathioprineCell Cycle ProteinsHumansMalePhenotypeAutoantibodiesAzathioprineCell Cycle ProteinsFAM111B protein, humanAutoimmunityChronic mucocutaneous candidiasisFAM111BimmunosuppressionPOIKTMPPrimary immunodeficiency disorders

Identifiers

PMID36875114
PMCPMC9981804
OpenAlexW4321237786

What OpenQuestion holds

Textmetadata
LicenceCC BY
Read underepoch 390

Registered trials

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.