| Title |
XLP: Clinical Features and Molecular Etiology due to Mutations in SH2D1A Encoding SAP
|
|---|---|
| Published in |
Journal of Clinical Immunology, August 2014
|
| DOI | 10.1007/s10875-014-0083-7 |
| Pubmed ID | |
| Authors |
Stuart G Tangye |
| Abstract |
X-linked lymphoproliferative disease (XLP) is a rare primary immunodeficiency affecting approximately 1-2 per 1 million males. A key feature of XLP is the exquisite sensitivity of affected individuals to disease induced following EBV infection. However, patients can also develop hypogammaglobulinemia and B-cell lymphoma independently of exposure to EBV. XLP is caused by loss-of function mutations in SH2D1A, which encodes the intracellular adaptor molecule SAP. SAP is predominantly expressed in T cells and NK cells, and functions to regulate signal transduction pathways downstream of the SLAM family of surface receptors to control CD4+ T cell (and by extension B cells), CD8+ T cell and NK cell function, as well as the development of NKT cells. The study of XLP had shed substantial light on the requirements for lymphocyte differentiation and immune regulation, which in turn have the potential to be translated into novel treatments for not only XLP patients but individuals affected by EBV-induced disease, impaired humoral immunity and malignancy. |
X Demographics
The data shown below were collected from the profiles of 2 X users who shared this research output. Click here to find out more about how the information was compiled.
Geographical breakdown
| Country | Count | As % |
|---|---|---|
| Unknown | 2 | 100% |
Demographic breakdown
| Type | Count | As % |
|---|---|---|
| Members of the public | 2 | 100% |
Mendeley readers
The data shown below were compiled from readership statistics for 66 Mendeley readers of this research output. Click here to see the associated Mendeley record.
Geographical breakdown
| Country | Count | As % |
|---|---|---|
| United States | 1 | 2% |
| Unknown | 65 | 98% |
Demographic breakdown
| Readers by professional status | Count | As % |
|---|---|---|
| Student > Ph. D. Student | 13 | 20% |
| Student > Master | 12 | 18% |
| Researcher | 12 | 18% |
| Student > Bachelor | 7 | 11% |
| Student > Postgraduate | 4 | 6% |
| Other | 7 | 11% |
| Unknown | 11 | 17% |
| Readers by discipline | Count | As % |
|---|---|---|
| Medicine and Dentistry | 20 | 30% |
| Immunology and Microbiology | 11 | 17% |
| Agricultural and Biological Sciences | 9 | 14% |
| Biochemistry, Genetics and Molecular Biology | 8 | 12% |
| Computer Science | 1 | 2% |
| Other | 5 | 8% |
| Unknown | 12 | 18% |
Attention Score in Context
This research output has an Altmetric Attention Score of 7. 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 October 2023.
All research outputs
#4,772,579
of 25,186,033 outputs
Outputs from Journal of Clinical Immunology
#314
of 1,778 outputs
Outputs of similar age
#43,519
of 236,052 outputs
Outputs of similar age from Journal of Clinical Immunology
#1
of 22 outputs
Altmetric has tracked 25,186,033 research outputs across all sources so far. Compared to these this one has done well and is in the 79th percentile: it's in the top 25% of all research outputs ever tracked by Altmetric.
So far Altmetric has tracked 1,778 research outputs from this source. They typically receive more attention than average, with a mean Attention Score of 8.6. This one has done well, scoring higher than 81% 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 236,052 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 80% of its contemporaries.
We're also able to compare this research output to 22 others from the same source and published within six weeks on either side of this one. This one has done particularly well, scoring higher than 99% of its contemporaries.