Evidence map›Paper›PMID 42367780›Full record

ArticleFrontiers in immunology2026

Heterogeneous immune cell composition in patients with combined immunodeficiency.

Jareb J Pérez-Caraballo, Colleen M Roark, Megan M Dobrose, Ana Van den Rym, Aidé Tamara Staines-Boone, Yuridia Salazar-Galvez, Noemi Gomez-Hernandez, Jian Cui, Lauren E Brown, Xin Zhen and 6 more

Abstract read
In one paragraph

Article in Frontiers in immunology, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the 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.

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

1 citing paper in PubMed.

  1. Review
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

16 authors.

Jareb J Pérez-CaraballoDivision of Genetic Medicine and Clinical Pharmacology, Department of Medicine, Vanderbilt University Medical Center, Nashville, TN, United States.
Colleen M RoarkDivision of Genetic Medicine and Clinical Pharmacology, Department of Medicine, Vanderbilt University Medical Center, Nashville, TN, United States.
Megan M DobroseDivision of Genetic Medicine and Clinical Pharmacology, Department of Medicine, Vanderbilt University Medical Center, Nashville, TN, United States.
Ana Van den RymLaboratory of Immunogenetics of Human Diseases, IdiPAZ Institute for Health Research, La Paz University Hospital, Madrid, Spain.
Aidé Tamara Staines-BooneImmunology Service, Hospital de Especialidades Unidad Médica de Alta Especialidad (UMAE), 25 del Instituto Mexicano del Seguro Social (IMSS), Monterrey, Mexico.
Yuridia Salazar-GalvezImmunology Service, Hospital de Especialidades Unidad Médica de Alta Especialidad (UMAE), 25 del Instituto Mexicano del Seguro Social (IMSS), Monterrey, Mexico.
Noemi Gomez-HernandezAllergy and Clinical Immunology Service, Unidad Médica de Alta Especialidad, Centro Médico Nacional de Occidente IMSS, Guadalajara, Jalisco, Mexico.
Jian CuiDivision of Genetic Medicine and Clinical Pharmacology, Department of Medicine, Vanderbilt University Medical Center, Nashville, TN, United States.
Lauren E BrownDivision of Genetic Medicine and Clinical Pharmacology, Department of Medicine, Vanderbilt University Medical Center, Nashville, TN, United States.
Xin ZhenDivision of Genetic Medicine and Clinical Pharmacology, Department of Medicine, Vanderbilt University Medical Center, Nashville, TN, United States.
Saul O Lugo ReyesImmune Deficiencies Laboratory, National Institute of Pediatrics, Health Secretariat, Mexico City, Mexico.
Lizbeth Blancas-GaliciaImmune Deficiencies Laboratory, National Institute of Pediatrics, Health Secretariat, Mexico City, Mexico.
Óscar de la Calle-MartínImmunology Department, Hospital de la Santa Creu i Sant Pau, Barcelona, Spain.
Reem MohammedSection of Pediatric Allergy and Immunology, Department of Pediatrics, King Faisal Specialist Hospital and Research Centre, Riyadh, Saudi Arabia.
Rebeca Pérez de DiegoLaboratory of Immunogenetics of Human Diseases, IdiPAZ Institute for Health Research, La Paz University Hospital, Madrid, Spain.
Rubén Martínez-BarricarteDivision of Genetic Medicine and Clinical Pharmacology, Department of Medicine, Vanderbilt University Medical Center, Nashville, TN, United States.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Introduction: Combined immunodeficiencies (CIDs) are a severe class of inborn errors of immunity characterized by defective T cell development and function, often accompanied by impaired humoral and natural killer (NK) cell responses. Despite their shared clinical classification, the immunological heterogeneity within CIDs remains incompletely understood. This study aims to characterize the immune cell landscape in CID patients caused by disease-causing mutations in different genes to identify immunophenotypic patterns. Methods: We analyzed peripheral blood immune cells from four CID patients with disease-causing mutations in Results: All patients retained major immune populations, but their relative frequencies differed significantly from those of healthy controls. Patients with EZR and ARPC1B deficiency had markedly reduced CD4 Discussion: Our findings reveal pronounced immunological heterogeneity among CID patients caused by different genetic defects, challenging the notion that CIDs constitute a uniform entity. Disease-causing gene-specific alterations in immune cell composition and differentiation states underscore the complexity of CID pathophysiology. Comprehensive immunophenotypic profiling offers valuable insights into distinct mechanistic pathways and may guide the development of tailored therapeutic strategies to improve clinical outcomes for CID patients.

Indexed as

Immunologic Deficiency SyndromesSevere Combined ImmunodeficiencyChild, PreschoolFemaleHumansImmunophenotypingInfantInterferon Regulatory FactorsKiller Cells, NaturalMaleMutationT-Lymphocyte SubsetsInterferon Regulatory FactorsArpc1bBcl10combined immunodeficiencycyTOFezrininborn errors of immunityIRF4mass cytometry

Identifiers

PMID42367780
PMCPMC13303123

What Socratic 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 Socratic graph.