Evidence map›Paper›PMID 38129623›Full record

ReviewJournal of clinical immunology2023

Inherited Human BCL10 Deficiencies.

Ashwag A Alsaidalani, Blanca García-Solís, Esraa Bukhari, Ana Van Den Rym, Eduardo López-Collazo, Silvia Sánchez-Ramón, Fernando Corvillo, Alberto López-Lera, Ana de Andrés, Rubén Martínez-Barricarte and 1 more

Open access · greenAbstract readCase ReportsReview
In one paragraph

Review in Journal of clinical immunology, 2023. 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
0.3field-weighted citation impact, top 33% of its field
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, 2 citations in OpenAlex.

  1. A novel linker region truncating variant in BCL10 underlies a leaky immunodeficiency phenotype.Pediatric allergy and immunology : official publication of the European Society of Pediatric Allergy and Immunology · 2026
    Article
  2. Human immunity to fungal infections.The Journal of experimental medicine · 2025
    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

11 authors at 5 institutions in 3 countries.

Ashwag A Alsaidalani *Department of Pediatrics, Faculty of Medicine, King Abdulaziz University, 22252, Jeddah, Saudi Arabia.
Blanca García-Solís *Laboratory of Immunogenetics of Human Diseases, IdiPAZ Institute for Health Research, La Paz University Hospital, 28046, Madrid, Spain.
Esraa BukhariDepartment of Pediatrics, Faculty of Medicine, King Abdulaziz University, 22252, Jeddah, Saudi Arabia.
Ana Van Den RymLaboratory of Immunogenetics of Human Diseases, IdiPAZ Institute for Health Research, La Paz University Hospital, 28046, Madrid, Spain.
Eduardo López-CollazoInnate Immunity Group, IdiPAZ Institute for Health Research, La Paz University Hospital, 28046, Madrid, Spain.
Silvia Sánchez-RamónInterdepartmental Group of Immunodeficiencies, Madrid, Spain.
Fernando CorvilloIdiPAZ Institute for Health Research, La Paz University Hospital, CIBERER U-754, 28046, Madrid, Spain.
Alberto López-LeraIdiPAZ Institute for Health Research, La Paz University Hospital, CIBERER U-754, 28046, Madrid, Spain.
Ana de AndrésImmunology Department, Hospital Ramon y Cajal, 28034, Madrid, Spain.
Rubén Martínez-BarricarteDivision of Genetic Medicine, Department of Medicine, Vanderbilt Genetics Institute, Vanderbilt University Medical Center, Nashville, TN, 37232, USA.
Rebeca Perez de DiegoLaboratory of Immunogenetics of Human Diseases, IdiPAZ Institute for Health Research, La Paz University Hospital, 28046, Madrid, Spain. rebeca.perez@idipaz.es.ORCID 0000-0001-8426-8765
Hospital La Paz Institute for Health Research · ESKing Abdulaziz University · SAHospital Clínico San Carlos · ESHospital Universitario Ramón y Cajal · ESVanderbilt University Medical Center · US

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 AI171466
6 · The paper itself

Abstract

Human BCL10 deficiency causes combined immunodeficiency with bone marrow transplantation as its only curative option. To date, there are four homozygous mutations described in the literature that were identified in four unrelated patients. Here, we describe a fifth patient with a novel mutation and summarize what we have learned about BCL10 deficiency. Due to the severity of the disease, accurate knowledge of its clinical and immunological characteristics is instrumental for early diagnosis and adequate clinical management of the patients.

Indexed as

Immunologic Deficiency SyndromesB-Cell CLL-Lymphoma 10 ProteinBone Marrow TransplantationHumansMutationB-Cell CLL-Lymphoma 10 ProteinBCL10 protein, humanBCL10combined immunodeficiencyinborn errors of immunityPrimary immunodeficiency

Identifiers

PMID38129623
PMCPMC10966939
OpenAlexW4390078477

What OpenQuestion holds

Textmetadata
LicenceTDM
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 OpenQuestion graph.