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Early onset combined immunodeficiency and autoimmunity in patients with loss-of-function mutation in LAT

Overview of attention for article published in The Journal of Experimental Medicine, May 2016
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About this Attention Score

  • In the top 25% of all research outputs scored by Altmetric
  • High Attention Score compared to outputs of the same age (84th percentile)
  • Good Attention Score compared to outputs of the same age and source (67th percentile)

Citations

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91 Mendeley
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1 CiteULike
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Title
Early onset combined immunodeficiency and autoimmunity in patients with loss-of-function mutation in LAT
Published in
The Journal of Experimental Medicine, May 2016
DOI 10.1084/jem.20151110
Pubmed ID
Authors

Baerbel Keller, Irina Zaidman, O. Sascha Yousefi, Dov Hershkovitz, Jerry Stein, Susanne Unger, Kristina Schachtrup, Mikael Sigvardsson, Amir A. Kuperman, Avraham Shaag, Wolfgang W. Schamel, Orly Elpeleg, Klaus Warnatz, Polina Stepensky

Abstract

The adapter protein linker for activation of T cells (LAT) is a critical signaling hub connecting T cell antigen receptor triggering to downstream T cell responses. In this study, we describe the first kindred with defective LAT signaling caused by a homozygous mutation in exon 5, leading to a premature stop codon deleting most of the cytoplasmic tail of LAT, including the critical tyrosine residues for signal propagation. The three patients presented from early childhood with combined immunodeficiency and severe autoimmune disease. Unlike in the mouse counterpart, reduced numbers of T cells were present in the patients. Despite the reported nonredundant role of LAT in Ca(2+) mobilization, residual T cells were able to induce Ca(2+) influx and nuclear factor (NF) κB signaling, whereas extracellular signal-regulated kinase (ERK) signaling was completely abolished. This is the first report of a LAT-related disease in humans, manifesting by a progressive combined immune deficiency with severe autoimmune disease.

X Demographics

X Demographics

The data shown below were collected from the profiles of 11 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 91 Mendeley readers of this research output. Click here to see the associated Mendeley record.

Geographical breakdown

Country Count As %
United States 1 1%
Unknown 90 99%

Demographic breakdown

Readers by professional status Count As %
Researcher 21 23%
Student > Ph. D. Student 15 16%
Student > Master 9 10%
Student > Doctoral Student 7 8%
Other 7 8%
Other 9 10%
Unknown 23 25%
Readers by discipline Count As %
Immunology and Microbiology 18 20%
Medicine and Dentistry 18 20%
Biochemistry, Genetics and Molecular Biology 12 13%
Agricultural and Biological Sciences 11 12%
Engineering 2 2%
Other 5 5%
Unknown 25 27%
Attention Score in Context

Attention Score in Context

This research output has an Altmetric Attention Score of 11. 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 19 May 2022.
All research outputs
#3,322,916
of 25,374,917 outputs
Outputs from The Journal of Experimental Medicine
#2,341
of 11,600 outputs
Outputs of similar age
#55,867
of 352,984 outputs
Outputs of similar age from The Journal of Experimental Medicine
#17
of 52 outputs
Altmetric has tracked 25,374,917 research outputs across all sources so far. Compared to these this one has done well and is in the 86th percentile: it's in the top 25% of all research outputs ever tracked by Altmetric.
So far Altmetric has tracked 11,600 research outputs from this source. They typically receive a lot more attention than average, with a mean Attention Score of 13.4. This one has done well, scoring higher than 79% 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 352,984 tracked outputs that were published within six weeks on either side of this one in any source. This one has done well, scoring higher than 84% of its contemporaries.
We're also able to compare this research output to 52 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 67% of its contemporaries.