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Unexpected relevant role of gene mosaicism in patients with primary immunodeficiency diseases

Overview of attention for article published in The Journal of Allergy and Clinical Immunology, January 2019
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  • Good Attention Score compared to outputs of the same age (66th percentile)
  • Average Attention Score compared to outputs of the same age and source

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9 tweeters
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1 Facebook page

Citations

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1 Dimensions

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30 Mendeley
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Title
Unexpected relevant role of gene mosaicism in patients with primary immunodeficiency diseases
Published in
The Journal of Allergy and Clinical Immunology, January 2019
DOI 10.1016/j.jaci.2018.09.009
Pubmed ID
Authors

Anna Mensa-Vilaró, María Bravo García-Morato, Oscar de la Calle-Martin, Clara Franco-Jarava, María Teresa Martínez-Saavedra, Luis I. González-Granado, Eva González-Roca, Jose Luis Fuster, Laia Alsina, Osvaldo M. Mutchinick, Angélica Balderrama-Rodríguez, Eduardo Ramos, Consuelo Modesto, Pablo Mesa-del-Castillo, Norberto Ortego-Centeno, Daniel Clemente, Alejandro Souto, Natalia Palmou, Agustín Remesal, Kieron S. Leslie, Enrique Gómez de la Fuente, Luz Yadira Bravo Gallego, Josep María Campistol, Naouel Guirat Dhouib, Mohamed Bejaoui, Lívia Almeida Dutra, Maria Teresa Terreri, Catalina Mosquera, Tatiana González, Jerónima Cañellas, José María García-Ruiz de Morales, Carine H. Wouters, María Teresa Bosque, Weng Tarng Cham, Santiago Jiménez-Treviño, Jaime de Inocencio, Markéta Bloomfield, Rebeca Pérez de Diego, Natalia Martínez-Pomar, Rebeca Rodríguez-Pena, Cecilia González-Santesteban, Pere Soler-Palacín, Ferran Casals, Jordi Yagüe, Luis M. Allende, José Carlos Rodríguez-Gallego, Roger Colobran, Laura Martínez-Martínez, Eduardo López-Granados, Juan I. Aróstegui

Abstract

Post-zygotic de novo mutations lead to the phenomenon of gene mosaicism. The three main types are called somatic, gonadal and gonosomal mosaicism, which differ on the body distribution of post-zygotic mutations. Mosaicism has been occasionally reported in primary immunodeficiency diseases (PID) since early 90s, but its real involvement has not been systematically addressed. To investigate the incidence of gene mosaicism in PID. The amplicon-based deep sequencing method was employed in the three parts of the study that establish the allele frequency of germline variants (n:100), the incidence of parental gonosomal mosaicism in PID families with de novo mutations (n:92) and the incidence of mosaicism in PID families with moderate-to-high suspicious (n:36), respectively. Additional investigations evaluated body distribution of post-zygotic mutations, their stability over time and their characteristics. The range of allele frequency 44.1-55.6% was established for germline variants. Those with minor allele frequency (MAF) <44.1% were assumed as post-zygotic. Mosaicism was detected in 30/128 (23.4%) PID families, with variable MAF (0.8-40.5%). Parental gonosomal mosaicism was detected in 6/92 (6.5%) families with de novo mutations, whereas a high incidence of mosaicism (63.9%) was detected among families with moderate-to-high suspicious. In most analyzed cases, mosaicism was found both uniformly distributed and stable over time. This study represents the largest one performed to date to investigate mosaicism in PID, revealing that it affects ≈25% of enrolled families. Our results may have serious consequences regarding patients' treatment and genetic counseling, and reinforce the use of NGS-based methods in the routine analyses of PID.

Twitter Demographics

The data shown below were collected from the profiles of 9 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 30 Mendeley readers of this research output. Click here to see the associated Mendeley record.

Geographical breakdown

Country Count As %
Unknown 30 100%

Demographic breakdown

Readers by professional status Count As %
Student > Ph. D. Student 6 20%
Researcher 5 17%
Student > Bachelor 3 10%
Unspecified 3 10%
Librarian 3 10%
Other 10 33%
Readers by discipline Count As %
Medicine and Dentistry 12 40%
Unspecified 6 20%
Biochemistry, Genetics and Molecular Biology 5 17%
Agricultural and Biological Sciences 5 17%
Immunology and Microbiology 1 3%
Other 1 3%

Attention Score in Context

This research output has an Altmetric Attention Score of 5. 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 04 January 2019.
All research outputs
#3,308,844
of 13,177,477 outputs
Outputs from The Journal of Allergy and Clinical Immunology
#3,292
of 7,847 outputs
Outputs of similar age
#86,596
of 264,446 outputs
Outputs of similar age from The Journal of Allergy and Clinical Immunology
#58
of 107 outputs
Altmetric has tracked 13,177,477 research outputs across all sources so far. This one has received more attention than most of these and is in the 74th percentile.
So far Altmetric has tracked 7,847 research outputs from this source. They typically receive a lot more attention than average, with a mean Attention Score of 14.1. This one has gotten more attention than average, scoring higher than 57% 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 264,446 tracked outputs that were published within six weeks on either side of this one in any source. This one has gotten more attention than average, scoring higher than 66% of its contemporaries.
We're also able to compare this research output to 107 others from the same source and published within six weeks on either side of this one. This one is in the 44th percentile – i.e., 44% of its contemporaries scored the same or lower than it.