Evidence map›Paper›PMID 41249596›Full record

ArticleGenes and immunity2026

Molecular analysis and immunological characterization of a founder mutation causing ARPC1B deficiency.

Megan M Dobrose, Meltem Ece Kars, Jareb J Perez-Caraballo, Colleen M Roark, Christine Mariskanish, Oscar Zavaleta-Martinez, Noemi Gomez-Hernandez, Saul Oswaldo Lugo-Reyes, Yuval Itan, Lizbeth Blancas-Galicia and 1 more

Abstract read
In one paragraph

Article in Genes and immunity, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 2 papers.

0numbers the graph read from it
0cells of the map it votes in
2citing 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

2 citing papers in PubMed.

  1. Article
  2. 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

11 authors.

Megan M DobroseDivision of Genetic Medicine, Department of Medicine, Vanderbilt University Medical Center, Nashville, TN, USA.ORCID 0009-0005-9180-1018
Meltem Ece KarsThe Charles Bronfman Institute for Personalized Medicine, Icahn School of Medicine at Mount Sinai, New York, NY, USA.ORCID 0000-0001-5922-5608
Jareb J Perez-CaraballoDivision of Genetic Medicine, Department of Medicine, Vanderbilt University Medical Center, Nashville, TN, USA.
Colleen M RoarkDivision of Genetic Medicine, Department of Medicine, Vanderbilt University Medical Center, Nashville, TN, USA.ORCID 0009-0002-3312-5312
Christine MariskanishDivision of Genetic Medicine, Department of Medicine, Vanderbilt University Medical Center, Nashville, TN, USA.
Oscar Zavaleta-MartinezAllergy and Immunology Department, ISSEMYN, Toluca, Estado de México, Mexico.
Noemi Gomez-HernandezAllergy and Clinical Immunology Service, Unidad Médica de Alta Especialidad, Centro Médico Nacional de Occidente IMSS, Guadalajara, Jalisco, Mexico.
Saul Oswaldo Lugo-ReyesImmunodeficiency Laboratory, National Institute of Pediatrics, Mexico City, Mexico.
Yuval ItanThe Charles Bronfman Institute for Personalized Medicine, Icahn School of Medicine at Mount Sinai, New York, NY, USA.
Lizbeth Blancas-GaliciaImmunodeficiency Laboratory, National Institute of Pediatrics, Mexico City, Mexico.ORCID 0000-0002-3861-8864
Rubén Martínez-BarricarteDivision of Genetic Medicine, Department of Medicine, Vanderbilt University Medical Center, Nashville, TN, USA. ruben.m.barricarte@vumc.org.ORCID 0000-0001-7925-449X

Funding

The role of SERPINB1 in T cell function and its contribution to human diseasesR01AI168210 · NIAID · VANDERBILT UNIVERSITY MEDICAL CENTER · PI Ruben Martinez Barricarte · 2023 to 2026
$2.6M
Gain-of-function complement activators as a new class of immunotherapeutic moleculesR01CA269217 · NCI · VANDERBILT UNIVERSITY MEDICAL CENTER · PI Ruben Martinez Barricarte · 2023 to 2026
$2.0M
Genetic and immunological dissection of isolated NocardiosisR21AI171466 · NIAID · VANDERBILT UNIVERSITY MEDICAL CENTER · PI MARTINEZ BARRICARTE, RUBEN · 2022 to 2023
$476k
NCI NIH HHS R01 CA269217NIAID NIH HHS R01 AI168210NIAID NIH HHS R21 AI171466U.S. Department of Health & Human Services | NIH | National Cancer Institute (NCI) R01CA269217U.S. Department of Health & Human Services | NIH | National Institute of Allergy and Infectious Diseases (NIAID) R01AI168210U.S. Department of Health & Human Services | NIH | National Institute of Allergy and Infectious Diseases (NIAID) R21AI171466
6 · The paper itself

Abstract

Actin-Related Protein Complex 1B (ARPC1B) is a subunit of the ARP2/3 complex that is predominately expressed in hematopoietic cells and is involved in the regulation of actin polymerization. ARPC1B deficiency leads to combined immunodeficiency (CID) with symptoms of eczema, allergies, inflammation, recurrent infection, and thrombocytopenia. We characterize the disease-causing variant c.899_944del (p.E300Gfs*7) on the ARPC1B gene that originated from a founder effect in an indigenous American population. We showed that this variant impairs protein expression leading to a complete deficiency of ARPC1B. Additionally, we used mass cytometry to thoroughly analyze the effects of this mutation on the frequencies of immune populations. Our findings suggest that ARPC1B is critical for class switching since our ARPC1B-deficient patient had reduced frequencies of class-switched memory B cells. Furthermore, the frequencies of total CD4

Indexed as

Actin-Related Protein 2-3 ComplexB-LymphocytesFemaleFounder EffectHumansMaleMutationActin-Related Protein 2-3 ComplexARPC1B protein, human

Identifiers

PMID41249596
PMCPMC12923354

What Socratic holds

Textmetadata
LicenceCC BY
Read underepoch 390

Registered trials

None linked

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.