Evidence map›Paper›PMID 41651679›Full record

ArticleThe journal of gene medicine2026

Chronic Granulomatous Disease: Clinical and Molecular Characterization of Brazilian Patients.

Leonardo Martinello da Rosa, Martha Braun da Rosa, Mariana de Sampaio Leite Jobim Wilson, Ida Vanessa Doederlein Schwartz, Fernanda Sperb-Ludwig

Erratum issuedAbstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in The journal of gene medicine, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. An erratum has been issued. Cited by 2 papers.

0numbers the graph read from it
0cells of the map it votes in
2citing 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

2 citing papers in PubMed.

  1. Article
  2. Article
4 · The record

Corrections and comments

5 · Who and what money

Authors and funding

5 authors.

Leonardo Martinello da RosaPrograma de Pós-Graduação em Genética e Biologia Molecular (PPGBM), Universidade Federal do Rio Grande do Sul (UFRGS), Porto Alegre, Rio Grande do Sul, Brazil.ORCID 0009-0001-3545-0576
Martha Braun da RosaHospital de Clínicas de Porto Alegre (HCPA), Centro de Pesquisa Experimental (CPE), Basic Research and Advanced Investigation in Neurosciences Laboratory (BRAIN), Porto Alegre, Rio Grande do Sul, Brazil.
Mariana de Sampaio Leite Jobim WilsonHospital Moinhos de Vento (HMV), Porto Alegre, Rio Grande do Sul, Brazil.
Ida Vanessa Doederlein SchwartzPrograma de Pós-Graduação em Genética e Biologia Molecular (PPGBM), Universidade Federal do Rio Grande do Sul (UFRGS), Porto Alegre, Rio Grande do Sul, Brazil.
Fernanda Sperb-LudwigPrograma de Pós-Graduação em Genética e Biologia Molecular (PPGBM), Universidade Federal do Rio Grande do Sul (UFRGS), Porto Alegre, Rio Grande do Sul, Brazil.ORCID 0000-0002-2460-7064

Funding

Conselho Nacional de Desenvolvimento Científico e TecnológicoFundação de Amparo à Pesquisa do Estado do Rio Grande do Sul FAPERGS 24/2551-0000591-9Fundo de Incentivo à Pesquisa e Eventos do Hospital de Clínicas de Porto Alegre 2022-0206
6 · The paper itself

Abstract

Chronic granulomatous disease (CGD) is a rare inborn error of immunity caused by defects in components of the NADPH oxidase that impair the elimination of infectious microorganisms. Individuals affected by CGD become more susceptible to recurrent and severe infections. Six male patients from Southern Brazil were clinically and genetically analyzed through data collection from medical records and massively parallel sequencing by a panel for the following genes: CYBB, CYBA, NCF1, NCF2, and NCF4 and whole genome sequencing analysis. The gene-scan technique was used to identify the GT deletion in NCF1. The most common affected organs were the lungs, skin, and lymph nodes; the most common clinical manifestations were recurrent pneumonia, cutaneous involvement, lymph node manifestations, and failure to thrive. Four patients were identified with variants in CYBB: p.Cys257Ser, which is novel; p.Cys257Arg; p.Arg157Ter; and p.Trp483Ter. Both missense variants damage the loop E in gp91

Indexed as

Granulomatous Disease, ChronicNADPH OxidasesBrazilChildChild, PreschoolHumansInfantMaleMutationNADPH Oxidase 2PhenotypeCYBB protein, humanNADPH Oxidase 2NADPH Oxidasesneutrophil cytosolic factor 1chronic granulomatous diseasegenetic diagnosis of immunodeficienciesinborn errors of immunityNADPH oxidaserespiratory burst

Identifiers

PMID41651679
PMCPMC12880906

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.