Evidence map›Paper›PMID 39629200›Full record

ArticleJournal of pediatrics. Clinical practice2024

X-linked Thrombocytopenia with Normal Wiskott-Aldrich Syndrome Protein Expression in Lymphocytes and a Novel Wiskott-Aldrich Syndrome Protein Gene Variant: A Case Report and Brief Review of the Literature.

Serena Hamanaka, Toru Uchiyama, Tadashi Kaname, Motohiro Matsui, Hiroshi Yoshihashi, Atsushi Makimoto, Yuki Yuza, Akira Ishiguro

Abstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in Journal of pediatrics. Clinical practice, 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

8 authors.

Serena HamanakaDepartment of General Pediatrics, Tokyo Metropolitan Children's Medical Center, Tokyo, Japan.
Toru UchiyamaDepartment of Human Genetics, National Center for Child Health and Development, Tokyo, Japan.
Tadashi KanameDepartment of Genome Medicine, National Center for Child Health and Development, Tokyo, Japan.
Motohiro MatsuiDepartment of Hematology/Oncology, Tokyo Metropolitan Children's Medical Center, Tokyo, Japan.
Hiroshi YoshihashiDepartment of Clinical Genetics, Tokyo Metropolitan Children's Medical Center, Tokyo, Japan.
Atsushi MakimotoDepartment of Hematology/Oncology, Tokyo Metropolitan Children's Medical Center, Tokyo, Japan.
Yuki YuzaDepartment of Hematology/Oncology, Tokyo Metropolitan Children's Medical Center, Tokyo, Japan.
Akira IshiguroCenter for Postgraduate Education and Training, National Center for Child Health and Development, Tokyo, Japan.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

We present a case of X-linked thrombocytopenia (XLT) with a novel WAS gene variant expressing a normal amount of Wiskott-Aldrich syndrome protein (WASp) in lymphocytes. XLT usually decreases WASp expression not only in platelets, but also in lymphocytes. However, there were cases, such as the present one, in which WASp was expressed normally in lymphocytes and absent only in platelets. Our finding suggests that it is of greater diagnostic sensitivity to perform an expression analysis of WASp in both platelets and lymphocytes when XLT is suspected.

Indexed as

lymphocytenovel variantWiskott-Aldrich syndrome proteinX-linked thrombocytopenia

Identifiers

PMID39629200
PMCPMC11613185

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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.