Evidence map›Paper›PMID 42382660›Full record

ArticleJournal of human immunity2026

Two novel kindreds with autosomal recessive STAT2 deficiency.

Verena Kienapfel, Lotte Cresens, Lucy Bizien, Julia Vasconcelos, Marwa Chbihi, Margarida Guedes, António Marinho, Anneleen Hombrouck, Marjon Wouters, Dylan Laurens and 8 more

Abstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in Journal of human immunity, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

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

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

0 citing papers in PubMed.

No citing paper in PubMed yet.

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

18 authors.

Verena KienapfelLaboratory of Inborn Errors of Immunity, Department of Microbiology, Immunology and Transplantation, KU Leuven, Belgium.ORCID https://orcid.org/0009-0002-5476-2257
Lotte CresensLaboratory of Inborn Errors of Immunity, Department of Microbiology, Immunology and Transplantation, KU Leuven, Belgium.ORCID https://orcid.org/0009-0008-1733-4572
Lucy BizienLaboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM U1163, Necker Hospital for Sick Children, Paris, France.ORCID https://orcid.org/0000-0001-9163-9122
Julia VasconcelosPathology, Immunology Department, University Hospital Center of Porto, Porto, Portugal.ORCID https://orcid.org/0000-0002-7315-5703
Marwa ChbihiPediatric Immunology-Hematology and Rheumatology Unit, Laboratory of Immunogenetics of Pediatric Autoimmune Diseases, Inserm U1163, Necker-Enfants Malades Hospital, Assistance Publique - Hôpitaux de Paris, Paris, France.ORCID https://orcid.org/0000-0002-2771-851X
Margarida GuedesPediatrics Department, Maternal-Infantile North Center, University Hospital Center of Porto, Porto, Portugal.ORCID https://orcid.org/0000-0002-5043-3416
António MarinhoUnit for Multidisciplinary Research in Biomedicine, Institute of Biomedical Sciences Abel Salazar, University of Porto, Porto, Portugal.ORCID https://orcid.org/0000-0002-3295-6723
Anneleen HombrouckLaboratory of Inborn Errors of Immunity, Department of Microbiology, Immunology and Transplantation, KU Leuven, Belgium.ORCID https://orcid.org/0009-0003-5236-6063
Marjon WoutersLaboratory of Inborn Errors of Immunity, Department of Microbiology, Immunology and Transplantation, KU Leuven, Belgium.ORCID https://orcid.org/0000-0002-4675-1665
Dylan LaurensLaboratory of Inborn Errors of Immunity, Department of Microbiology, Immunology and Transplantation, KU Leuven, Belgium.ORCID https://orcid.org/0009-0000-6454-8903
Koji NakajimaLaboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM U1163, Necker Hospital for Sick Children, Paris, France.ORCID https://orcid.org/0000-0002-3548-5330
Jean-Laurent CasanovaLaboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM U1163, Necker Hospital for Sick Children, Paris, France.ORCID https://orcid.org/0000-0002-7782-4169
Jacinta BustamanteLaboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM U1163, Necker Hospital for Sick Children, Paris, France.ORCID https://orcid.org/0000-0002-3439-2482
Shen-Ying ZhangLaboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM U1163, Necker Hospital for Sick Children, Paris, France.ORCID https://orcid.org/0000-0002-9449-3672
Paul BastardLaboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM U1163, Necker Hospital for Sick Children, Paris, France.ORCID https://orcid.org/0000-0002-5926-8437
Leen MoensLaboratory of Inborn Errors of Immunity, Department of Microbiology, Immunology and Transplantation, KU Leuven, Belgium.ORCID https://orcid.org/0000-0002-5347-6526
Isabelle Meyts *Laboratory of Inborn Errors of Immunity, Department of Microbiology, Immunology and Transplantation, KU Leuven, Belgium.ORCID https://orcid.org/0000-0003-1214-0302
Giorgia Bucciol *Laboratory of Inborn Errors of Immunity, Department of Microbiology, Immunology and Transplantation, KU Leuven, Belgium.ORCID https://orcid.org/0000-0001-5004-0738

Funding

Developing, Demonstrating, and Disseminating Innovative Programs to Achieve Translational SuccessUL1TR001866 · NCATS · ROCKEFELLER UNIVERSITY · PI COLLER, BARRY, KRUEGER, JAMES G · 2016 to 2025
$40.6M
Inborn errors of immunity in patients with life-threatening COVID-19R01AI163029 · NIAID · ROCKEFELLER UNIVERSITY · PI CASANOVA, JEAN-LAURENT, ZHANG, QIAN · 2021 to 2025
$3.7M
NCATS NIH HHS UL1 TR001866NIAID NIH HHS R01 AI163029
6 · The paper itself

Abstract

STAT2 is a transcription factor in the type I/III interferon (IFN) antiviral response. Autosomal recessive STAT2 deficiency, reported in 12 kindreds from nine countries, underlies severe viral infections and hyperinflammation. We report three patients from two kindreds from Portugal and Algeria, respectively, with novel homozygous

Identifiers

PMID42382660
PMCPMC13317486

What OpenQuestion holds

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Registered trials

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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.