Evidence map›Paper›PMID 40977713›Full record

ArticleFrontiers in immunology2025

Case report: anti-IL-6 autoantibodies in a patient with immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome.

Tiziana Lorenzini, Lars Malmström, Ola Sabet, Samantha Milanesi, Diana Tintor, Severin Walser, Julius Köppen, Maarja Soomann, Mathias Hauri-Hohl, Seraina Prader and 2 more

Registry-linked trialAbstract readCase Reports
PubMed Full text at PMC Publisher
In one paragraph

Article in Frontiers in immunology, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. It is linked to trial NCT02735824 (Genetic Study of Immunodeficiency), which is not on this map. Cited by 1 paper.

0numbers the graph read from it
0cells of the map it votes in
1citing 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.

NCT02735824 recruitingnot on this map

Genetic Study of Immunodeficiency: Search for New Genetic Causes for Primary Immunodeficiencies

TypeobservationalSponsorUniversity Children's Hospital, ZurichRan2016 to 2027Enrolled500ConditionsImmunologic Deficiency Syndromes, Primary Immune Deficiency (PID)ArmsSkin Biopsy, Mouth Swab or Saliva Collection, Blood Sampling
3 · Its place in the literature

Who cites it

1 citing paper in PubMed.

  1. 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

12 authors.

Tiziana LorenziniPediatric Immunology, University of Zurich, Zurich and the Children's Research Center, University Children's Hospital Zurich, Zurich, Switzerland.
Lars MalmströmPediatric Immunology, University of Zurich, Zurich and the Children's Research Center, University Children's Hospital Zurich, Zurich, Switzerland.
Ola SabetPediatric Immunology, University of Zurich, Zurich and the Children's Research Center, University Children's Hospital Zurich, Zurich, Switzerland.
Samantha MilanesiPediatric Immunology, University of Zurich, Zurich and the Children's Research Center, University Children's Hospital Zurich, Zurich, Switzerland.
Diana TintorPediatric Immunology, University of Zurich, Zurich and the Children's Research Center, University Children's Hospital Zurich, Zurich, Switzerland.
Severin WalserPediatric Immunology, University of Zurich, Zurich and the Children's Research Center, University Children's Hospital Zurich, Zurich, Switzerland.
Julius KöppenPediatric Immunology, University of Zurich, Zurich and the Children's Research Center, University Children's Hospital Zurich, Zurich, Switzerland.
Maarja SoomannPediatric Immunology, University of Zurich, Zurich and the Children's Research Center, University Children's Hospital Zurich, Zurich, Switzerland.
Mathias Hauri-HohlDivision of Stem Cell Transplantation and the Children's Research Center, University Children's Hospital Zurich, Zurich, Switzerland.
Seraina PraderPediatric Immunology, University of Zurich, Zurich and the Children's Research Center, University Children's Hospital Zurich, Zurich, Switzerland.
Rainer DoffingerDepartment of Clinical Biochemistry and Immunology, Cambridge University Hospitals NHS Foundation Trust, Cambridge, United Kingdom.
Jana Pachlopnik SchmidPediatric Immunology, University of Zurich, Zurich and the Children's Research Center, University Children's Hospital Zurich, Zurich, Switzerland.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

We describe an atypical presentation of Immune dysregulation, Polyendocrinopathy, Enteropathy, X-linked syndrome. The patient exhibited food allergies and eczema, along with recurrent and severe infections, but notably lacked the hallmark chronic diarrhea and autoimmune polyendocrinopathy. Whole-exome sequencing revealed the hemizygous

Indexed as

AutoantibodiesDiarrheaGenetic Diseases, X-LinkedInterleukin-6AdolescentAllelesBase SequenceDiabetes Mellitus, Type 1Forkhead Transcription FactorsHumansImmune System DiseasesMaleAutoantibodiesForkhead Transcription FactorsFOXP3 protein, humanIL6 protein, humanInterleukin-6anti-IL-6 autoantibodiesCD4+ lymphopeniahypogammaglobulinemiaIPEX (Immune dysregulation, Polyendocrinopathy, Enteropathy, X-linked syndrome)Th1-like memory phenotypeT regulatory cells

Identifiers

PMID40977713
PMCPMC12443674

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Registered trials

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