Evidence map›Paper›PMID 33825088›Full record

ArticleJournal of clinical immunology2021

A Novel TRAF3IP2 Mutation Causing Chronic Mucocutaneous Candidiasis.

Filipa Marujo, Simon J Pelham, João Freixo, Ana Isabel Cordeiro, Catarina Martins, Jean-Laurent Casanova, Wei-Te Lei, Anne Puel, João Farela Neves

Open access · bronzeAbstract readCase ReportsLetter
PubMed Full text at PMC Publisher
In one paragraph

Article in Journal of clinical immunology, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 8 papers.

0numbers the graph read from it
0cells of the map it votes in
8citing papers in PubMed
1.1field-weighted citation impact, top 24% 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

8 citing papers in PubMed, 17 citations in OpenAlex.

  1. Human immunity to fungal infections.The Journal of experimental medicine · 2025
    Review
  2. Review
  3. Article
  4. Article
  5. The Th17/IL-17 Axis and Host Defense Against Fungal Infections.The journal of allergy and clinical immunology. In practice · 2023
    Review
  6. Review
  7. Review
  8. 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

9 authors at 8 institutions in 4 countries.

Filipa Marujo *Primary Immunodeficiencies Unit, Hospital Dona Estefânia-CHLC, EPE, Rua Jacinta Marto, 1169-045, Lisbon, Portugal. filipa.marujo10@gmail.com.ORCID 0000-0001-9953-0092
Simon J Pelham *St Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, Rockefeller University, New York, NY, 10065, USA.
João FreixoCentro de Genética Preditiva e Preventiva, Instituto de Biologia Molecular e Celular, Instituto de Investigação e Inovação em Saúde, Porto, Portugal.
Ana Isabel CordeiroPrimary Immunodeficiencies Unit, Hospital Dona Estefânia-CHLC, EPE, Rua Jacinta Marto, 1169-045, Lisbon, Portugal.
Catarina MartinsCEDOC, Chronic Diseases Research Center, NOVA Medical School, Lisbon, Portugal.
Jean-Laurent CasanovaSt Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, Rockefeller University, New York, NY, 10065, USA.
Wei-Te LeiSt Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, Rockefeller University, New York, NY, 10065, USA.
Anne Puel *St Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, Rockefeller University, New York, NY, 10065, USA.
João Farela Neves *Primary Immunodeficiencies Unit, Hospital Dona Estefânia-CHLC, EPE, Rua Jacinta Marto, 1169-045, Lisbon, Portugal. joao.farelaneves@gmail.com.
Hospital de Dona Estefânia · PTChang Gung University · TWHospital de São João · PTHoward Hughes Medical Institute · USi3S - Instituto de Investigação e Inovação em Saúde, Universidade do Porto · PTInserm · FRRockefeller University · USUniversidade Nova de Lisboa · PT

Funding

Genome-wide search for inborn errors of IL-17 immunity underlying chronic mucocutaneous candidiasisR01AI127564 · NIAID · UT SOUTHWESTERN MEDICAL CENTER · PI Jean-Laurent Casanova · 2017 to 2026
$4.8M
NIAID NIH HHS R01 AI127564
6 · The paper itself

Abstract

Inborn errors of the IL-17-mediated signaling have been associated with chronic mucocutaneous candidiasis (CMC). We describe a patient with CMC, atopic dermatitis, enamel dysplasia, and recurrent parotitis harboring a novel compound heterozygous mutation of TRAF3IP2, leading to autosomal recessive ACT1 deficiency and deficient IL-17 signaling.

Indexed as

Adaptor Proteins, Signal TransducingCandidiasis, Chronic MucocutaneousChildGenetic Predisposition to DiseaseHumansInterleukin-17MaleMutationAdaptor Proteins, Signal TransducingInterleukin-17TRAF3IP2 protein, humanACT1Candida spp.chronic mucocutaneous candidiasisIL-17TRAF3IP2

Identifiers

PMID33825088
PMCPMC8316359
OpenAlexW3145292148

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.