Evidence map›Paper›PMID 38757100›Full record

ArticleNorthern clinics of Istanbul2024

A rare disease: ZAP70 deficiency.

Seher Erdogan, Selen Ceren Cakmak, Atay Gurkan, Canan Hasbal Akkus, Burcu Karakayali, Ozlem Akgun Dogan, Betul Sozeri

Abstract readCase Reports
PubMed Full text at PMC Publisher
In one paragraph

Article in Northern clinics of Istanbul, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.

0numbers the graph read from it
0cells of the map it votes in
1citing papers in PubMed
–field-weighted citation impact
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

1 citing paper in PubMed.

  1. 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

7 authors.

Seher ErdoganDepartment of Pediatric Critical Care, University of Health Sciences, Umraniye Training and Research Hospital, Istanbul, Turkiye.
Selen Ceren CakmakDepartment of Pediatrics, University of Health Sciences, Umraniye Training and Research Hospital, Istanbul, Turkiye.
Atay GurkanDepartment of Pediatric Critical Care, University of Health Sciences, Umraniye Training and Research Hospital, Istanbul, Turkiye.
Canan Hasbal AkkusDepartment of Pediatrics, University of Health Sciences, Umraniye Training and Research Hospital, Istanbul, Turkiye.
Burcu KarakayaliDepartment of Pediatrics, University of Health Sciences, Umraniye Training and Research Hospital, Istanbul, Turkiye.
Ozlem Akgun DoganDepartment of Medical Genetics, University of Health Sciences, Umraniye Training and Research Hospital, Istanbul, Turkiye.
Betul SozeriDepartment of Pediatric Rheumatology, University of Health Sciences, Umraniye Training and Research Hospital, Istanbul, Turkiye.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Zeta associated protein (ZAP) 70 deficiency is a rare disease. ZAP70 deficiency results in an autosomal recessive form of severe combined immunodeficiency (SCID) that is characterized by a selective absence of CD8 T cells. The diagnosis should be suspected in patients presenting with a severe combined immunodeficiency phenotype and selective deficiency of CD8 T cells. Sequencing of the ZAP70 gene can confirm the diagnosis. We wanted to emphasize that immunodeficiencies should also be remembered in the differential diagnosis by presenting a 5-month-old patient who applied to our clinic with complaints of skin rash and cough, was given respiratory support with mechanical ventilation for a long time, and was diagnosed with ZAP70 deficiency.

Indexed as

Protein kinasesevere combined immunodeficiencyZAP70

Identifiers

PMID38757100
PMCPMC11095332

What OpenQuestion holds

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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.