↓ Skip to main content

Germline hypomorphic CARD11 mutations in severe atopic disease

Overview of attention for article published in Nature Genetics, June 2017
Altmetric Badge

About this Attention Score

  • In the top 5% of all research outputs scored by Altmetric
  • High Attention Score compared to outputs of the same age (97th percentile)
  • Good Attention Score compared to outputs of the same age and source (69th percentile)

Citations

dimensions_citation
105 Dimensions

Readers on

mendeley
139 Mendeley
Title
Germline hypomorphic CARD11 mutations in severe atopic disease
Published in
Nature Genetics, June 2017
DOI 10.1038/ng.3898
Pubmed ID
Authors

Chi A Ma, Jeffrey R Stinson, Yuan Zhang, Jordan K Abbott, Michael A Weinreich, Pia J Hauk, Paul R Reynolds, Jonathan J Lyons, Celeste G Nelson, Elisa Ruffo, Batsukh Dorjbal, Salomé Glauzy, Natsuko Yamakawa, Swadhinya Arjunaraja, Kelsey Voss, Jennifer Stoddard, Julie Niemela, Yu Zhang, Sergio D Rosenzweig, Joshua J McElwee, Thomas DiMaggio, Helen F Matthews, Nina Jones, Kelly D Stone, Alejandro Palma, Matías Oleastro, Emma Prieto, Andrea R Bernasconi, Geronimo Dubra, Silvia Danielian, Jonathan Zaiat, Marcelo A Marti, Brian Kim, Megan A Cooper, Neil Romberg, Eric Meffre, Erwin W Gelfand, Andrew L Snow, Joshua D Milner

Abstract

Few monogenic causes for severe manifestations of common allergic diseases have been identified. Through next-generation sequencing on a cohort of patients with severe atopic dermatitis with and without comorbid infections, we found eight individuals, from four families, with novel heterozygous mutations in CARD11, which encodes a scaffolding protein involved in lymphocyte receptor signaling. Disease improved over time in most patients. Transfection of mutant CARD11 expression constructs into T cell lines demonstrated both loss-of-function and dominant-interfering activity upon antigen receptor-induced activation of nuclear factor-κB and mammalian target of rapamycin complex 1 (mTORC1). Patient T cells had similar defects, as well as low production of the cytokine interferon-γ (IFN-γ). The mTORC1 and IFN-γ production defects were partially rescued by supplementation with glutamine, which requires CARD11 for import into T cells. Our findings indicate that a single hypomorphic mutation in CARD11 can cause potentially correctable cellular defects that lead to atopic dermatitis.

Twitter Demographics

The data shown below were collected from the profiles of 29 tweeters who shared this research output. Click here to find out more about how the information was compiled.

Mendeley readers

The data shown below were compiled from readership statistics for 139 Mendeley readers of this research output. Click here to see the associated Mendeley record.

Geographical breakdown

Country Count As %
United States 1 <1%
Unknown 138 99%

Demographic breakdown

Readers by professional status Count As %
Researcher 25 18%
Student > Ph. D. Student 24 17%
Student > Master 15 11%
Student > Bachelor 12 9%
Professor > Associate Professor 10 7%
Other 23 17%
Unknown 30 22%
Readers by discipline Count As %
Biochemistry, Genetics and Molecular Biology 24 17%
Medicine and Dentistry 24 17%
Agricultural and Biological Sciences 22 16%
Immunology and Microbiology 21 15%
Chemistry 2 1%
Other 11 8%
Unknown 35 25%

Attention Score in Context

This research output has an Altmetric Attention Score of 98. 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 October 2021.
All research outputs
#296,409
of 20,008,197 outputs
Outputs from Nature Genetics
#689
of 6,863 outputs
Outputs of similar age
#7,917
of 282,326 outputs
Outputs of similar age from Nature Genetics
#23
of 76 outputs
Altmetric has tracked 20,008,197 research outputs across all sources so far. Compared to these this one has done particularly well and is in the 98th percentile: it's in the top 5% of all research outputs ever tracked by Altmetric.
So far Altmetric has tracked 6,863 research outputs from this source. They typically receive a lot more attention than average, with a mean Attention Score of 37.5. This one has done well, scoring higher than 89% 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 282,326 tracked outputs that were published within six weeks on either side of this one in any source. This one has done particularly well, scoring higher than 97% of its contemporaries.
We're also able to compare this research output to 76 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 69% of its contemporaries.