Evidence map›Paper›PMID 31760094›Full record

ArticleClinical immunology (Orlando, Fla.)2020

Dysregulated actin dynamics in activated PI3Kδ syndrome.

Jacqueline G Wallace, Pedro Zambrano-Rodas, Wilmer Córdova-Calderón, Santiago Estrada-Turriate, Daniel Mendoza-Quispe, Yesenia Limache Ontiveros, Raif S Geha, Janet Chou, Craig D Platt

Open access · greenAbstract readCase Reports
In one paragraph

Article in Clinical immunology (Orlando, Fla.), 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 7 papers, 3 of them syntheses that pooled it.

0numbers the graph read from it
0cells of the map it votes in
7citing papers in PubMed, 3 pooled it
0.5field-weighted citation impact, top 34% 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

7 citing papers in PubMed, 3 syntheses or guidelines pooled it, 12 citations in OpenAlex.

  1. Pooled it
  2. Pooled it
  3. Systematic review of mortality and survival rates for APDS.Clinical and experimental medicine · 2024
    Pooled it
  4. Review
  5. Article
  6. Case Report: ActivatingFrontiers in immunology · 2021
    Article
  7. 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

9 authors at 4 institutions in 2 countries.

Jacqueline G WallaceDivision of Immunology, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA.
Pedro Zambrano-RodasFacultad de Medicina, Universidad Nacional Mayor de San Marcos (UNMSM), Lima, Peru; Asociación para el Desarrollo de la Investigación en Ciencias de la Salud (ADIECS), Lima, Peru.
Wilmer Córdova-CalderónCentro de Referencia Nacional de Asma, Alergia e Inmunología, Instituto Nacional de Salud del Niño, Breña, Peru.
Santiago Estrada-TurriateFacultad de Medicina, Universidad Nacional Mayor de San Marcos (UNMSM), Lima, Peru.
Daniel Mendoza-QuispeFacultad de Medicina, Universidad Nacional Mayor de San Marcos (UNMSM), Lima, Peru; Asociación para el Desarrollo de la Investigación en Ciencias de la Salud (ADIECS), Lima, Peru.
Yesenia Limache OntiverosServicio de Anatomía Patológica, Instituto Nacional de Salud del Niño, Breña, Peru.
Raif S GehaDivision of Immunology, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA. Electronic address: raif.geha@childrens.harvard.edu.
Janet ChouDivision of Immunology, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA.
Craig D PlattDivision of Immunology, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA.
National University of San Marcos · PEBoston Children's Hospital · USHarvard University · USInstituto Nacional de Salud del Niño · PE

Funding

STRUCTURE-FUNCTION RELATIONSHIPS IN THE ALIMENTARY TRACTP30DK034854 · NIDDK · HARVARD UNIVERSITY (MEDICAL SCHOOL) · PI LYNN BRY · 1986 to 2026
$32.4M
Mechanisms of a Novel Combined Immunodeficiency Caused by a Homozygous Mutation in COPG1R01AI139633 · NIAID · BOSTON CHILDREN'S HOSPITAL · PI GEHA, RAIF SALIM · 2018 to 2022
$3.1M
Novel mechanisms of T cell costimulation: the role of LRRC8A in T cell activationK08AI116979 · NIAID · BOSTON CHILDREN'S HOSPITAL · PI CHOU, JANET · 2015 to 2019
$934k
NIAID NIH HHS K08 AI116979NIAID NIH HHS R01 AI139633NIDDK NIH HHS P30 DK034854
6 · The paper itself

Abstract

Activated PI3Kδ syndrome (APDS) Type I results from gain-of-function mutations in PIK3CD, which encodes the p110δ subunit of PI3Kδ. Abnormal actin dynamics have been hypothesized to contribute to the lymphopenia associated with this disease but have not been studied in patients with APDS. We report a patient with APDS who had widespread necrotic skin lesions that were responsive specifically to immunosuppressive therapy. EBV-transformed lymphoblastoid cells (EBV-LCLs) from patients with APDS exhibit increased polymerized actin and increased apoptosis, suggesting a contribution of impaired actin dynamics to this disease.

Indexed as

Actin CytoskeletonActinsApoptosisCells, CulturedChild, PreschoolClass I Phosphatidylinositol 3-KinasesFemaleGain of Function MutationHigh-Throughput Nucleotide SequencingHumansLymphopeniaNecrosisPrimary Immunodeficiency DiseasesSkinActinsClass I Phosphatidylinositol 3-KinasesPIK3CD protein, humanActinAPDSPI3Kδ

Identifiers

PMID31760094
PMCPMC6989370
OpenAlexW2991612667

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.