Evidence map›Paper›PMID 42853148›Full record

ArticleJournal of human immunity2026

IRF4 p.T95R combined immunodeficiency: Clinical features and transplant outcomes.

Mattison P Stojcic, Makenzie A Manning, Miguel Galicchio, Manfred Hönig, Despina Moshous, Sven Kracker, Felipe Suarez, Ruben Martinez-Barricarte, Aidé Tamara Staines-Boone, Yuridia Salazar Gálvez and 10 more

Abstract read
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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

20 authors.

Mattison P StojcicDepartment of Pediatrics, BC Children's Hospital, The University of British Columbia, Vancouver, Canada.ORCID 0009-0006-3281-3921
Makenzie A ManningDepartment of Pediatrics, BC Children's Hospital, The University of British Columbia, Vancouver, Canada.ORCID 0009-0003-7020-2097
Miguel GalicchioAllergy and Immunology Service, Hospital de Niños VJ Vilela , Rosario, Argentina.ORCID 0000-0002-9765-3424
Manfred HönigDepartment of Pediatrics and Adolescent Medicine, University Medical Center Ulm, Ulm, Germany.ORCID 0000-0001-9165-1690
Despina MoshousPediatric Immunology, Hematology and Rheumatology Department, Necker-Enfants Malades University Hospital, Assistance Publique Hôpitaux de Paris, Paris, France.ORCID 0000-0001-6719-3693
Sven KrackerLaboratory of Lymphocyte Activation and Susceptibility to EBV Infection, INSERM UMR 1163, Imagine Institute, Université Paris Cité, Paris, France.ORCID 0000-0003-4543-8236
Felipe SuarezDepartment of Hématologie, Necker - Enfants Malades Hospital, Assistance Publique des Hopitaux de Paris (Institut IMAGINE INSERM U1163), Université Paris Cité, Paris, France.ORCID 0000-0002-3537-9052
Ruben Martinez-BarricarteDivision of Genetic Medicine and Clinical Pharmacology, Department of Medicine, Vanderbilt Genetics Institute, Vanderbilt University Medical Center, Nashville, TN, USA.ORCID 0000-0001-7925-449X
Aidé Tamara Staines-BooneImmunology Service, Hospital de Especialidades Unidad Médica de Alta Especialidad, 25 del Instituto Mexicano del Seguro Social , Monterrey, México.ORCID 0000-0003-0776-8162
Yuridia Salazar GálvezImmunology Service, Hospital de Especialidades Unidad Médica de Alta Especialidad, 25 del Instituto Mexicano del Seguro Social , Monterrey, México.ORCID 0009-0009-1059-2971
Edgar-Domingo Cordero-ChuraPediatric Allergy and Immunology Department, Dr Ovidio Aliaga Uría Children's Hospital, La Paz, Bolivia.ORCID 0009-0002-3770-7459
Estefany-Graciela Mamani-VelasquezPediatric Allergy and Immunology Department, Dr Ovidio Aliaga Uría Children's Hospital, La Paz, Bolivia.ORCID 0000-0001-7122-9134
Jian CuiDivision of Genetic Medicine and Clinical Pharmacology, Department of Medicine, Vanderbilt Genetics Institute, Vanderbilt University Medical Center, Nashville, TN, USA.ORCID 0000-0002-8483-9975
Jeremie RosainStudy Center for Primary Immunodeficiencies, Necker Hospital for Sick Children, Assistance Publique Hôpitaux de Paris , Paris, France.ORCID 0000-0002-2822-161X
Pandiarajan VigneshPediatric Allergy Immunology Unit, Department of Pediatrics, Post Graduate Institute of Medical Education and Research, Chandigarh, India.ORCID 0000-0001-8490-5584
Sergio D RosenzweigImmunology Service, Department of Laboratory Medicine, Clinical Center, National Institutes of Health, Bethesda, MD, USA.ORCID 0000-0002-5550-9678
Klaus SchwarzInstitute for Transfusion Medicine, University of Ulm , Ulm, Germany.ORCID 0000-0003-3178-5990
Catherine M BiggsDepartment of Pediatrics, BC Children's Hospital, The University of British Columbia, Vancouver, Canada.ORCID 0000-0002-4363-2660
Jacob RozmusDepartment of Pediatrics, BC Children's Hospital, The University of British Columbia, Vancouver, Canada.ORCID 0000-0003-4036-2105
Stuart E TurveyDepartment of Pediatrics, BC Children's Hospital, The University of British Columbia, Vancouver, Canada.ORCID 0000-0003-1599-1065

Funding

Agence Nationale de la Recherche ANR-10-IAHU-01Agence Nationale de la Recherche ANR-19-CE17-0012BC Children's Hospital FoundationCentre National de la Recherche ScientifiqueCIHR DTA-210441CIHR OGB-205728CIHR PJT-178054Genome British Columbia SIP007INSERMJeffrey Modell Foundation
6 · The paper itself

Abstract

IRF4 is a transcription factor within the interferon regulatory factor family that controls key aspects of lymphocyte differentiation and adaptive immunity. The heterozygous IRF4 p.Thr95Arg (p.T95R) variant affecting the DNA-binding domain was recently identified to cause a new inborn error of immunity, but the longitudinal clinical course and therapeutic implications remain incompletely defined. We performed detailed clinical characterization and follow-up of all 10 known patients. Each presented with early-onset combined immunodeficiency characterized by hypo- or agammaglobulinemia and marked susceptibility to opportunistic infections. Pulmonary disease was universal, and gastrointestinal involvement was associated with a more severe clinical course. Four patients underwent hematopoietic stem cell transplantation; two survived, and two died. Notably, both deaths occurred in patients transplanted in the setting of active infection. These findings define IRF4 p.T95R as a profound combined immunodeficiency with high infectious burden and demonstrate that disease severity and intervention timing may contribute to transplant outcomes, supporting early diagnosis and timely transplantation before uncontrolled infection.

Identifiers

PMID42853148

What Socratic holds

Textmetadata
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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 Socratic graph.