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X Demographics
Mendeley readers
Attention Score in Context
| Title |
A C126R de novo Mutation in CYBB Leads to X-linked Chronic Granulomatous Disease With Recurrent Pneumonia and BCGitis
|
|---|---|
| Published in |
Frontiers in Pediatrics, September 2018
|
| DOI | 10.3389/fped.2018.00248 |
| Pubmed ID | |
| Authors |
Jose Antonio Tavares de Albuquerque, Edgar Borges de Oliveira, Nuria Bengala Zurro, Paola Vendramini, Edson Kiyotaka Ishizuka, Daniela de Souza Paiva Borgli, Monica Soares de Souza, Antonio Condino-Neto |
| Abstract |
Chronic granulomatous disease (CGD) is an innate immune deficiency of phagocytic cells caused by mutations that affect components of the NADPH oxidase system, with resulting impairment in reactive oxygen species production. Patients with CGD are susceptible to recurrent infections and hyperinflammatory responses. Mutations in CYBB lead to the X-linked form of CGD and are responsible for ~ 70% of cases. In this study, we report the case of a 2.5-year-old male patient with recurrent pneumonia and Bacillus Calmette-Guérin infection (BCGitis). As his first clinical manifestation, he presented with bullous impetigo at 18 days of age, which was followed by recurrent pneumonia and regional BCGitis. Genetic analysis revealed a de novo mutation in exon 5 of the CYBB gene: a single-nucleotide substitution, c.376T > C, leading to a C126R change. |
X Demographics
Geographical breakdown
| Country | Count | As % |
|---|---|---|
| Switzerland | 1 | 100% |
Demographic breakdown
| Type | Count | As % |
|---|---|---|
| Science communicators (journalists, bloggers, editors) | 1 | 100% |
Mendeley readers
The data shown below were compiled from readership statistics for 9 Mendeley readers of this research output. Click here to see the associated Mendeley record.
Geographical breakdown
| Country | Count | As % |
|---|---|---|
| Unknown | 9 | 100% |
Demographic breakdown
| Readers by professional status | Count | As % |
|---|---|---|
| Researcher | 2 | 22% |
| Student > Bachelor | 2 | 22% |
| Unspecified | 1 | 11% |
| Lecturer > Senior Lecturer | 1 | 11% |
| Librarian | 1 | 11% |
| Other | 2 | 22% |
| Readers by discipline | Count | As % |
|---|---|---|
| Biochemistry, Genetics and Molecular Biology | 4 | 44% |
| Medicine and Dentistry | 2 | 22% |
| Unspecified | 1 | 11% |
| Immunology and Microbiology | 1 | 11% |
| Nursing and Health Professions | 1 | 11% |
| Other | 0 | 0% |
Attention Score in Context
This research output has an Altmetric Attention Score of 1. This is our high-level measure of the quality and quantity of online attention that it has received. This Attention Score, as well as the ranking and number of research outputs shown below, was calculated when the research output was last mentioned on 11 September 2018.
All research outputs
#18,649,291
of 23,103,436 outputs
Outputs from Frontiers in Pediatrics
#3,437
of 6,144 outputs
Outputs of similar age
#259,141
of 337,559 outputs
Outputs of similar age from Frontiers in Pediatrics
#78
of 103 outputs
Altmetric has tracked 23,103,436 research outputs across all sources so far. This one is in the 11th percentile – i.e., 11% of other outputs scored the same or lower than it.
So far Altmetric has tracked 6,144 research outputs from this source. They typically receive a little more attention than average, with a mean Attention Score of 5.5. This one is in the 31st percentile – i.e., 31% of its peers scored the same or lower than it.
Older research outputs will score higher simply because they've had more time to accumulate mentions. To account for age we can compare this Altmetric Attention Score to the 337,559 tracked outputs that were published within six weeks on either side of this one in any source. This one is in the 12th percentile – i.e., 12% of its contemporaries scored the same or lower than it.
We're also able to compare this research output to 103 others from the same source and published within six weeks on either side of this one. This one is in the 1st percentile – i.e., 1% of its contemporaries scored the same or lower than it.