| Title |
Compound Heterozygous CORO1A Mutations in Siblings with a Mucocutaneous-Immunodeficiency Syndrome of Epidermodysplasia Verruciformis-HPV, Molluscum Contagiosum and Granulomatous Tuberculoid Leprosy
|
|---|---|
| Published in |
Journal of Clinical Immunology, July 2014
|
| DOI | 10.1007/s10875-014-0074-8 |
| Pubmed ID | |
| Authors |
Asbjorg Stray-Pedersen, Emmanuelle Jouanguy, Amandine Crequer, Alison A. Bertuch, Betty S. Brown, Shalini N. Jhangiani, Donna M. Muzny, Tomasz Gambin, Hanne Sorte, Ghadir Sasa, Denise Metry, Judith Campbell, Marianna M. Sockrider, Megan K. Dishop, David M. Scollard, Richard A. Gibbs, Emily M. Mace, Jordan S. Orange, James R. Lupski, Jean-Laurent Casanova, Lenora M. Noroski |
| Abstract |
Coronin-1A deficiency is a recently recognized autosomal recessive primary immunodeficiency caused by mutations in CORO1A (OMIM 605000) that results in T-cell lymphopenia and is classified as T(-)B(+)NK(+)severe combined immunodeficiency (SCID). Only two other CORO1A-kindred are known to date, thus the defining characteristics are not well delineated. We identified a unique CORO1A-kindred. |
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 74 Mendeley readers of this research output. Click here to see the associated Mendeley record.
Geographical breakdown
| Country | Count | As % |
|---|---|---|
| Unknown | 74 | 100% |
Demographic breakdown
| Readers by professional status | Count | As % |
|---|---|---|
| Researcher | 21 | 28% |
| Student > Master | 9 | 12% |
| Student > Bachelor | 7 | 9% |
| Student > Ph. D. Student | 7 | 9% |
| Other | 5 | 7% |
| Other | 8 | 11% |
| Unknown | 17 | 23% |
| Readers by discipline | Count | As % |
|---|---|---|
| Medicine and Dentistry | 15 | 20% |
| Immunology and Microbiology | 13 | 18% |
| Biochemistry, Genetics and Molecular Biology | 11 | 15% |
| Nursing and Health Professions | 4 | 5% |
| Agricultural and Biological Sciences | 3 | 4% |
| Other | 3 | 4% |
| Unknown | 25 | 34% |
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 16 June 2015.
All research outputs
#17,724,033
of 22,759,618 outputs
Outputs from Journal of Clinical Immunology
#1,062
of 1,556 outputs
Outputs of similar age
#154,331
of 228,677 outputs
Outputs of similar age from Journal of Clinical Immunology
#7
of 23 outputs
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