Evidence map›Paper›PMID 33040328›Full record

ArticleClinical and experimental immunology2021

Whole-exome sequencing of T

R El Hawary, S Meshaal, A A Mauracher, L Opitz, D Abd Elaziz, S Lotfy, A Eldash, J Boutros, N Galal, J Pachlopnik Schmid and 1 more

Registry-linked trialOpen access · bronzeAbstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in Clinical and experimental immunology, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. It is linked to trial NCT02735824 (Genetic Study of Immunodeficiency), which is not on this map. Cited by 8 papers.

0numbers the graph read from it
0cells of the map it votes in
8citing papers in PubMed
0.7field-weighted citation impact, top 30% 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.

NCT02735824 recruitingnot on this map

Genetic Study of Immunodeficiency: Search for New Genetic Causes for Primary Immunodeficiencies

TypeobservationalSponsorUniversity Children's Hospital, ZurichRan2016 to 2027Enrolled500ConditionsImmunologic Deficiency Syndromes, Primary Immune Deficiency (PID)ArmsSkin Biopsy, Mouth Swab or Saliva Collection, Blood Sampling
3 · Its place in the literature

Who cites it

8 citing papers in PubMed, 13 citations in OpenAlex.

  1. Article
  2. Human immunity to fungal infections.The Journal of experimental medicine · 2025
    Review
  3. Article
  4. Case report: A novelFrontiers in immunology · 2024
    Article
  5. Article
  6. Article
  7. Article
  8. Flow cytometry optimizing the diagnostic approach in inborn errors of immunity: experience from Egypt.Allergy, asthma, and clinical immunology : official journal of the Canadian Society of Allergy and Clinical Immunology · 2022
    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 at 3 institutions in 2 countries.

R El Hawary *Faculty of Medicine, Clinical Pathology Department, Cairo University, Cairo, Egypt.ORCID 0000-0001-6244-0288
S Meshaal *Faculty of Medicine, Clinical Pathology Department, Cairo University, Cairo, Egypt.ORCID 0000-0003-0370-3820
A A MauracherDivision of Immunology, University Children's Hospital Zurich, Zurich, Switzerland.
L OpitzETH Zurich, Functional Genomics Center Zürich, University of Zurich, Zurich, Switzerland.
D Abd ElazizFaculty of Medicine, Pediatrics Department, Cairo University, Cairo, Egypt.
S LotfyFaculty of Medicine, Pediatrics Department, Cairo University, Cairo, Egypt.
A EldashFaculty of Medicine, Clinical Pathology Department, Cairo University, Cairo, Egypt.
J BoutrosFaculty of Medicine, Pediatrics Department, Cairo University, Cairo, Egypt.
N GalalFaculty of Medicine, Pediatrics Department, Cairo University, Cairo, Egypt.
J Pachlopnik Schmid *Division of Immunology, University Children's Hospital Zurich, Zurich, Switzerland.
A Elmarsafy *Faculty of Medicine, Pediatrics Department, Cairo University, Cairo, Egypt.
Cairo University · EGUniversity Children's Hospital Zurich · CHUniversity of Zurich · CH

Funding

The Children's Research Centre of the University Children's Hospital of ‎Zurich ‎The Clinical Research Priority Program of the University of Zurich for the CRPP ‎CYTIMM-ZThe Promedica foundation
6 · The paper itself

Abstract

Severe combined immunodeficiency (SCID) is fatal if not treated with immune reconstitution. In Egypt, T

Indexed as

MutationConsanguinityEgyptExome SequencingFamily HealthFemaleHumansInfantInfant, NewbornInterleukin Receptor Common gamma SubunitJanus Kinase 3Lymphocyte CountMalePedigreeSevere Combined ImmunodeficiencyT-LymphocytesIL2RG protein, humanInterleukin Receptor Common gamma SubunitJAK3 protein, humanJanus Kinase 3IL2RγJAK3severe combined immunodeficiencyT-B+SCIDwhole-exome sequencing

Identifiers

PMID33040328
PMCPMC7874839
OpenAlexW3092222856

What OpenQuestion holds

Textmetadata
Read underepoch 390

Registered trials

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.