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ArticleFrontiers in immunology2025

New insights into Wiskott-Aldrich syndrome: ten novel

Lucas W Santos, Samuel S Medina, Jéssica O Frade-Guanaes, Lúcia H Siqueira, Luiz Gustavo R de Lima, Bruna Chati, Marcos T Nolasco da Silva, Adriana G L Riccetto, Paula Lyra, Ana Carla A M Falcão and 7 more

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In one paragraph

Article in Frontiers in immunology, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 2 papers, 1 of them a synthesis that pooled it.

0numbers the graph read from it
0cells of the map it votes in
2citing papers in PubMed, 1 pooled it
–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

2 citing papers in PubMed, 1 synthesis or guideline pooled it.

  1. Pooled it
  2. 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

17 authors.

Lucas W Santos *Hemocentro UNICAMP, University of Campinas, Campinas, SP, Brazil.
Samuel S Medina *Hemocentro UNICAMP, University of Campinas, Campinas, SP, Brazil.
Jéssica O Frade-Guanaes *Hemocentro UNICAMP, University of Campinas, Campinas, SP, Brazil.
Lúcia H SiqueiraHemocentro UNICAMP, University of Campinas, Campinas, SP, Brazil.
Luiz Gustavo R de LimaHemocentro UNICAMP, University of Campinas, Campinas, SP, Brazil.
Bruna ChatiHemocentro UNICAMP, University of Campinas, Campinas, SP, Brazil.
Marcos T Nolasco da SilvaCenter for Investigation in Pediatrics, School of Medical Sciences, University of Campinas, UNICAMP, Campinas, SP, Brazil.
Adriana G L RiccettoCenter for Investigation in Pediatrics, School of Medical Sciences, University of Campinas, UNICAMP, Campinas, SP, Brazil.
Paula LyraDepartment of Pediatrics, Professor Fernando Figueira Institute of Integral Medicine (IMIP), Recife, PE, Brazil.
Ana Carla A M FalcãoDepartment of Pediatrics, Professor Fernando Figueira Institute of Integral Medicine (IMIP), Recife, PE, Brazil.
Pedro P A SantosDepartment of Pediatrics, Conceição Children's Hospital (HCC), Porto Alegre, Brazil.
Regina S W Di GesuDepartment of Pediatrics, Conceição Children's Hospital (HCC), Porto Alegre, Brazil.
Bianca StefanelloHemocentro UNICAMP, University of Campinas, Campinas, SP, Brazil.
Gabriela G Yamaguti-HayakawaHemocentro UNICAMP, University of Campinas, Campinas, SP, Brazil.
Carmem M S BonfimPediatric Blood and Marrow Transplantation Unit, Complexo Hospital de Clínicas, Universidade Federal do Paraná, Curitiba, Brazil.
Maria M S VilelaCenter for Investigation in Pediatrics, School of Medical Sciences, University of Campinas, UNICAMP, Campinas, SP, Brazil.
Margareth C OzeloHemocentro UNICAMP, University of Campinas, Campinas, SP, Brazil.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Background: Wiskott-Aldrich Syndrome (WAS) is a rare and severe X-linked immunodeficiency disorder characterized by microthrombocytopenia, eczema, and increased susceptibility to infections, autoimmunity, and malignancies. This study aims to explore molecular changes in the WAS gene in Brazilian patients and assess their correlation with clinical manifestations and disease severity. Methods: Thirty-one patients from 27 families with thrombocytopenia suspected to have WAS or X-linked thrombocytopenia (XLT) were analyzed. Clinical evaluation, cell morphology analysis, and flow cytometry (when feasible) were performed. DNA samples underwent direct sequencing to identify WAS gene mutations. Results: Genomic sequencing identified 17 WAS gene variants, 10 of which were novel, expanding the genetic diversity of the disorder. The most frequent Conclusions: The study underscores the need for early molecular diagnosis and tailored treatments, particularly HSCT, which remains the standard curative therapy. Additionally, the findings emphasize the role of genetic variation in predicting disease severity, underlining the importance of personalized medical approaches for WAS patients.

Indexed as

MutationWiskott-Aldrich SyndromeWiskott-Aldrich Syndrome ProteinAdolescentBrazilChildChild, PreschoolCohort StudiesFemaleHematopoietic Stem Cell TransplantationHumansInfantMalePhenotypeWAS protein, humanWiskott-Aldrich Syndrome Proteininborn errors of immunitythrombocytopeniaWASWASp mutationWiskott-Aldrich syndrome

Identifiers

PMID40821842
PMCPMC12350080

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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.