Evidence map›Paper›PMID 42421851›Full record

ArticleJournal of human immunity2026

TTC7A deficiency: A retrospective international study on treatment and outcomes from the Inborn Errors Working Party of EBMT.

Giulia Prunotto, Marie Parreillet, Bénédicte Neven, Despina Moshous, Genevieve de Saint Basile, Caroline Lindemans, Timothy Ronan Leahy, Elie Haddad, Herbert Pichler, Joao Farela Neves and 15 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

25 authors.

Giulia PrunottoFondazione IRCCS San Gerardo dei Tintori, Monza, Italy.ORCID https://orcid.org/0000-0002-9702-3334
Marie ParreilletPediatric Immuno-Hematology and Rheumatology Unit, Necker Hospital, Assistance Publique Hopitaux De Paris, Paris, France.ORCID https://orcid.org/0009-0005-9308-8172
Bénédicte NevenPediatric Immuno-Hematology and Rheumatology Unit, Necker Hospital, Assistance Publique Hopitaux De Paris, Paris, France.ORCID https://orcid.org/0000-0001-8941-0935
Despina MoshousPediatric Immuno-Hematology and Rheumatology Unit, Necker Hospital, Assistance Publique Hopitaux De Paris, Paris, France.ORCID https://orcid.org/0000-0001-6719-3693
Genevieve de Saint BasilePediatric Immuno-Hematology and Rheumatology Unit, Necker Hospital, Assistance Publique Hopitaux De Paris, Paris, France.ORCID https://orcid.org/0000-0002-1913-5269
Caroline LindemansPrincess Máxima Center for Pediatric Oncology, Utrecht, Netherlands.ORCID https://orcid.org/0000-0002-3984-5620
Timothy Ronan LeahyChildren's Health Ireland at Crumlin, Trinity College, Dublin and University of Dublin, Dublin, Ireland.ORCID https://orcid.org/0000-0001-6419-9328
Elie HaddadDepartment of Pediatrics, CHU Sainte-Justine Azrieli Research Center, University of Montreal, Montreal, Canada.ORCID https://orcid.org/0000-0003-2446-6879
Herbert PichlerDepartment of Pediatrics and Adolescent Medicine, St. Anna Children's Hospital, Austria and St. Anna Children's Cancer Research Institute, Medical University of Vienna, Vienna, Austria.ORCID https://orcid.org/0000-0001-5107-5123
Joao Farela NevesHospital Dona Estefânia, Centro Hospitalar Universitário de Lisboa Central, Lisbon, Portugal.ORCID https://orcid.org/0000-0003-4740-6094
Mary SlatterGreat Northern Children's Hospital, Newcastle Upon Tyne, UK.ORCID https://orcid.org/0000-0001-5407-7829
Nasrine RadwanChildren's Hospital, Ain Shams University, Cairo, Egypt.ORCID https://orcid.org/0000-0002-4334-4589
Carsten SpeckmannInstitute for Immunodeficiency, Center for Chronic Immunodeficiency, Faculty of Medicine, Medical Center-University of Freiburg, University of Freiburg, Freiburg, Germany.ORCID https://orcid.org/0000-0002-6217-1556
Christos TzivinikosAl Jalila Children's Specialty Hospital, Dubai, UAE.ORCID https://orcid.org/0000-0001-9681-1649
Edward J HoffenbergChildren's Hospital, Aurora, CO, USA.
Chee Y OoiDiscipline of Paediatrics & Child Health, School of Clinical Medicine, UNSW Medicine & Health, University of New South Wales, Sydney, Australia.ORCID https://orcid.org/0000-0001-7111-0926
Alberto Pinzon-CharryQueensland Children's Hospital, University of Queensland and Griffith University, Brisbane, Australia.ORCID https://orcid.org/0000-0001-8870-6304
Looi C EeQueensland Children's Hospital, University of Queensland and Griffith University, Brisbane, Australia.ORCID https://orcid.org/0000-0001-7532-0541
Silvia RicciMeyer Children's Hospital, IRCCS, Florence, Italy.ORCID https://orcid.org/0000-0001-7140-1694
Michael H AlbertDepartment of Pediatrics, Dr. von Hauner Children's Hospital, University Hospital, LMU Munich, Munich, Germany.ORCID https://orcid.org/0000-0001-9143-3263
Jonathan O'DonnellSickKids Inflammatory Bowel Disease Center and Cell Biology Program, Research Institute, Hospital for Sick Children, Toronto, Canada.ORCID https://orcid.org/0009-0001-6215-3681
Austen WorthGreat Ormond Street Hospital NHS Foundation Trust, London, UK.ORCID https://orcid.org/0000-0001-6803-7385
Holm H UhligDepartment of Paediatrics, Centre for Human Genetics, Biomedical Research Centre, University of Oxford, Oxford, UK.ORCID https://orcid.org/0000-0002-6111-7355
Aleixo MuiseSickKids Inflammatory Bowel Disease Center and Cell Biology Program, Research Institute, Hospital for Sick Children, Toronto, Canada.ORCID https://orcid.org/0000-0001-9624-3346
Giovanna LucchiniFondazione IRCCS San Gerardo dei Tintori, Monza, Italy.ORCID https://orcid.org/0000-0002-3224-9404

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Tetratricopeptide repeat domain 7A (TTC7A) deficiency is a primary immunodeficiency due to mutations in the

Identifiers

PMID42421851
PMCPMC13344125

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.