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First Case of CD40LG Deficiency in Ecuador, Diagnosed after Whole Exome Sequencing in a Patient with Severe Cutaneous Histoplasmosis

Overview of attention for article published in Frontiers in Pediatrics, February 2017
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  • Above-average Attention Score compared to outputs of the same age and source (51st percentile)

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Title
First Case of CD40LG Deficiency in Ecuador, Diagnosed after Whole Exome Sequencing in a Patient with Severe Cutaneous Histoplasmosis
Published in
Frontiers in Pediatrics, February 2017
DOI 10.3389/fped.2017.00017
Pubmed ID
Authors

Luis Alberto Pedroza, Nina Guerrero, Asbjørg Stray-Pedersen, Cristina Tafur, Roque Macias, Greta Muñoz, Zeynep Coban Akdemir, Shalini N. Jhangiani, Levi B. Watkin, Ivan K. Chinn, James R. Lupski, Jordan S. Orange

Abstract

Severe infections with Histoplasma capsulatum are commonly observed in patient with secondary immunodeficiency disorders. We report a two and a half years old boy previously healthy with disseminated cutaneous histoplasmosis. Using whole exome sequencing, we found an indel mutation at the CD40LG gene, suggesting a diagnosis of hyper-IgM (HIGM) syndrome, even in the absence of the usual features for the disease. Interestingly, the patient lives in a region endemic for histoplasmosis. The unusual infections in our case suggest that in children with severe histoplasmosis and resident in endemic areas, HIGM syndrome should be considered as a diagnosis.

X Demographics

X Demographics

The data shown below were collected from the profiles of 3 X users who shared this research output. Click here to find out more about how the information was compiled.
Mendeley readers

Mendeley readers

The data shown below were compiled from readership statistics for 16 Mendeley readers of this research output. Click here to see the associated Mendeley record.

Geographical breakdown

Country Count As %
Unknown 16 100%

Demographic breakdown

Readers by professional status Count As %
Student > Ph. D. Student 3 19%
Researcher 3 19%
Student > Doctoral Student 2 13%
Student > Master 2 13%
Professor 1 6%
Other 2 13%
Unknown 3 19%
Readers by discipline Count As %
Medicine and Dentistry 7 44%
Immunology and Microbiology 3 19%
Biochemistry, Genetics and Molecular Biology 1 6%
Agricultural and Biological Sciences 1 6%
Unknown 4 25%
Attention Score in Context

Attention Score in Context

This research output has an Altmetric Attention Score of 2. 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 09 May 2017.
All research outputs
#13,536,217
of 22,953,506 outputs
Outputs from Frontiers in Pediatrics
#1,808
of 6,019 outputs
Outputs of similar age
#212,194
of 422,663 outputs
Outputs of similar age from Frontiers in Pediatrics
#31
of 64 outputs
Altmetric has tracked 22,953,506 research outputs across all sources so far. This one is in the 39th percentile – i.e., 39% of other outputs scored the same or lower than it.
So far Altmetric has tracked 6,019 research outputs from this source. They typically receive a little more attention than average, with a mean Attention Score of 5.6. This one has gotten more attention than average, scoring higher than 68% of its peers.
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 422,663 tracked outputs that were published within six weeks on either side of this one in any source. This one is in the 48th percentile – i.e., 48% of its contemporaries scored the same or lower than it.
We're also able to compare this research output to 64 others from the same source and published within six weeks on either side of this one. This one has gotten more attention than average, scoring higher than 51% of its contemporaries.