Evidence map›Paper›PMID 37313400›Full record

ArticleFrontiers in immunology2023

Combined immunodeficiency caused by pathogenic variants in the

Cédric Mongellaz, Rita Vicente, Lenora M Noroski, Nelly Noraz, Valérie Courgnaud, Javier Chinen, Emilia Faria, Valérie S Zimmermann, Naomi Taylor

Open access · goldAbstract read
In one paragraph

Article in Frontiers in immunology, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 5 papers.

0numbers the graph read from it
0cells of the map it votes in
5citing papers in PubMed
1.0field-weighted citation impact, top 23% 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

5 citing papers in PubMed, 6 citations in OpenAlex.

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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

9 authors at 5 institutions in 3 countries.

Cédric MongellazInstitut de Génétique Moléculaire de Montpellier, University of Montpellier, Centre National de la Recherche Scientifique (CNRS), Montpellier, France.
Rita VicenteInstitut de Génétique Moléculaire de Montpellier, University of Montpellier, Centre National de la Recherche Scientifique (CNRS), Montpellier, France.
Lenora M NoroskiImmunology, Allergy and Rheumatology Section, Department of Pediatrics, Texas Children's Hospital, Baylor College of Medicine, Houston, TX, United States.
Nelly NorazInstitut de Génétique Moléculaire de Montpellier, University of Montpellier, Centre National de la Recherche Scientifique (CNRS), Montpellier, France.
Valérie CourgnaudInstitut de Génétique Moléculaire de Montpellier, University of Montpellier, Centre National de la Recherche Scientifique (CNRS), Montpellier, France.
Javier ChinenImmunology, Allergy and Rheumatology Section, Department of Pediatrics, Texas Children's Hospital, Baylor College of Medicine, Houston, TX, United States.
Emilia FariaImmunoallergy Department, Coimbra Hospital and University Centre (CHUC), Coimbra, Portugal.
Valérie S ZimmermannInstitut de Génétique Moléculaire de Montpellier, University of Montpellier, Centre National de la Recherche Scientifique (CNRS), Montpellier, France.
Naomi TaylorInstitut de Génétique Moléculaire de Montpellier, University of Montpellier, Centre National de la Recherche Scientifique (CNRS), Montpellier, France.
Centre National de la Recherche Scientifique · FRInstitut de Génétique Moléculaire de Montpellier · FRTexas Children's Hospital · USUniversité de Montpellier · FRUniversity of Coimbra · PT

Funding

Reprogramming hematopoietic stem cell (HSC) differentiation via metabolic conditZIABC011924 · NCI · DIVISION OF BASIC SCIENCES - NCI · PI TAYLOR, NAOMI · 2019 to 2025
$9.0M
ZAP-70 Deficiency: A model for gene therapy studiesR01AI059349 · NIAID · CNRS DELEGATION LANGUEDOC-ROUSSILLON · PI TAYLOR, NAOMI · 2007 to 2010
$812k
NIAID NIH HHS R01 AI059349
6 · The paper itself

Abstract

Introduction: ZAP-70, a protein tyrosine kinase recruited to the T cell receptor (TCR), initiates a TCR signaling cascade upon antigen stimulation. Mutations in the Methods: Genetic analyses were performed on four patients with CD8 lymphopenia and a high resolution melting screening for Results and discussion: Genetic characterization of an infant who presented with pneumocystis pneumonia, mycobacterial infection, and an absence of CD8 T cells revealed a novel homozygous mutation in the C-terminal SH2 domain (SH2-C) of the

Indexed as

LymphopeniaPrimary Immunodeficiency DiseasesArginineHumansInfantProtein-Tyrosine Kinasessrc Homology DomainsZAP-70 Protein-Tyrosine KinaseArginineProtein-Tyrosine KinasesZAP70 protein, humanZAP-70 Protein-Tyrosine Kinaseautoimmunityinborn errors of immunity (IEI)phosphate binding pocketprimary immunodeficiencies (PID)SH2 mutationsSykTCR zeta chainZAP-70

Identifiers

PMID37313400
PMCPMC10258307
OpenAlexW4378714174

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.