Evidence map›Paper›PMID 31781101›Full record

ArticleFrontiers in immunology2019

Secondary C1q Deficiency in Activated PI3Kδ Syndrome Type 2.

Ying Hong, Sira Nanthapisal, Ebun Omoyinmi, Peter Olbrich, Olaf Neth, Carsten Speckmann, Jose Manuel Lucena, Kimberly Gilmour, Austen Worth, Genomics England Research Consortium and 3 more

Open access · goldAbstract readCase Reports
In one paragraph

Article in Frontiers in immunology, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 8 papers, 2 of them syntheses that pooled it.

0numbers the graph read from it
0cells of the map it votes in
8citing papers in PubMed, 2 pooled it
0.3field-weighted citation impact, top 39% 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

8 citing papers in PubMed, 2 syntheses or guidelines pooled it, 12 citations in OpenAlex.

  1. Pooled it
  2. Pooled it
  3. Review
  4. Article
  5. Article
  6. Review
  7. Article
  8. 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

13 authors at 5 institutions in 4 countries.

Ying HongInfection, Immunology and Inflammation Research & Teaching Department, University College London Great Ormond Street Institute of Child Health, London, United Kingdom.
Sira NanthapisalInfection, Immunology and Inflammation Research & Teaching Department, University College London Great Ormond Street Institute of Child Health, London, United Kingdom.
Ebun OmoyinmiInfection, Immunology and Inflammation Research & Teaching Department, University College London Great Ormond Street Institute of Child Health, London, United Kingdom.
Peter OlbrichPaediatric Infectious Diseases, Rheumatology and Immunology Unit, Institut of Biomedicine of Seville, Hospital Universitario Virgen del Rocío, Seville, Spain.
Olaf NethPaediatric Infectious Diseases, Rheumatology and Immunology Unit, Institut of Biomedicine of Seville, Hospital Universitario Virgen del Rocío, Seville, Spain.
Carsten SpeckmannFaculty of Medicine, Center for Chronic Immunodeficiency, Medical Center, University of Freiburg, Freiburg im Breisgau, Germany.
Jose Manuel LucenaUnidad de Inmunología, Hospital Universitario Virgen del Rocio, Seville, Spain.
Kimberly GilmourClinical Immunology Laboratory, Great Ormond Street Hospital NHS Foundation Trust, London, United Kingdom.
Austen WorthClinical Immunology Laboratory, Great Ormond Street Hospital NHS Foundation Trust, London, United Kingdom.
Genomics England Research Consortium
Nigel KleinInfection, Immunology and Inflammation Research & Teaching Department, University College London Great Ormond Street Institute of Child Health, London, United Kingdom.
Despina EleftheriouInfection, Immunology and Inflammation Research & Teaching Department, University College London Great Ormond Street Institute of Child Health, London, United Kingdom.
Paul BroganInfection, Immunology and Inflammation Research & Teaching Department, University College London Great Ormond Street Institute of Child Health, London, United Kingdom.
University College London · GBGreat Ormond Street Hospital for Children NHS Foundation Trust · GBHospital Universitario Virgen del Rocío · ESInstituto de Biomedicina de Sevilla · ESUniversity of Freiburg · DE

Funding

Cancer Research UKMedical Research Council MC_EX_MR/M009203/1Medical Research Council MC_PC_14089Medical Research Council MR/M009203/1Medical Research Council MR/S006753/1Wellcome Trust
6 · The paper itself

Abstract

Monogenic forms of vasculitis are rare but increasingly recognized. Furthermore, genetic immunodeficiency is increasingly associated with inflammatory immune dysregulatory features, including vasculitis. This case report describes a child of non-consanguineous parents who presented with chronic digital vasculitis early in life, is of short stature, has facial dysmorphia, immunodeficiency (low serum IgA, high serum IgM), recurrent bacterial infections, lymphoproliferation, absence of detectable serum C1q, and low classical complement pathway activity. We identified a previously reported

Indexed as

AdolescentClass I Phosphatidylinositol 3-KinasesComplement C1qFemaleGenetic Association StudiesGenetic Predisposition to DiseaseGenetic TestingHumansImmunophenotypingPhenotypePrimary Immunodeficiency DiseasesWhole Genome SequencingClass I Phosphatidylinositol 3-KinasesComplement C1qPIK3CD protein, humanactivated PI3Kδ syndrome type 2C1q deficiencydigital vasculitishyper-IgM syndromeimmunodeficiencySHORT syndrome

Identifiers

PMID31781101
PMCPMC6859795
OpenAlexW2993902771

What OpenQuestion 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 OpenQuestion graph.