Immunological Aspects of Kabuki Syndrome: A Retrospective Multicenter Study of the Italian Primary Immunodeficiency Network (IPINet)-Reference-Cited by-同舟云学术

Immunological Aspects of Kabuki Syndrome: A Retrospective Multicenter Study of the Italian Primary Immunodeficiency Network (IPINet)

Published:2024-04-27 Issue:5 Volume:44 Page:
ISSN:0271-9142
Container-title:Journal of Clinical Immunology
language:en
Short-container-title:J Clin Immunol

Author:

Rossini Linda,Ricci Silvia,Montin Davide,Azzari Chiara,Gambineri Eleonora,Tellini Marco,Conti Francesca,Pession Andrea,Saettini Francesco,Naviglio Samuele,Valencic Erica,Magnolato Andrea,Baselli Lucia,Azzolini Sara,Consolini Rita,Leonardi Lucia,D’Alba Irene,Carraro Elisa,Romano Roberta,Melis Daniela,Stagi Stefano,Cirillo Emilia,Giardino Giuliana,Biffi Alessandra,Pignata Claudio,Putti Maria Caterina,Marzollo Antonio^ORCID

Publisher

Springer Science and Business Media LLC

Link

https://link.springer.com/content/pdf/10.1007/s10875-024-01676-y.pdf

Reference64 articles.

1. Margot H, Boursier G, Duflos C, Sanchez E, Amiel J, Andrau J-C et al. Immunopathological manifestations in Kabuki syndrome: a registry study of 177 individuals. Genet Med. 2019;0(0). Available from: http://www.nature.com/articles/s41436-019-0623-x.

2. Sobreira N, Brucato M, Zhang L, Ladd-Acosta C, Ongaco C, Romm J et al. Patients with a Kabuki syndrome phenotype demonstrate DNA methylation abnormalities. Eur J Hum Genet. 2017;25(12):1335–44. https://doi.org/10.1038/s41431-017-0023-0.

3. Makrythanasis P, van Bon BW, Steehouwer M, Rodríguez-Santiago B, Simpson M, Dias P, et al. MLL2 mutation detection in 86 patients with Kabuki syndrome: a genotype-phenotype study. Clin Genet. 2013;84(6):539–45.

4. Ng SB, Bigham AW, Buckingham KJ, Hannibal MC, McMillin MJ, Gildersleeve HI et al. Exome sequencing identifies MLL2 mutations as a cause of Kabuki syndrome. Nat Genet. 2010.

5. Lederer D, Grisart B, Digilio MC, Benoit V, Crespin M, Ghariani SC et al. Deletion of KDM6A, a histone demethylase interacting with MLL2, in three patients with Kabuki syndrome. Am J Hum Genet. 2012;90(1):119–24. Available from: http://www.ncbi.nlm.nih.gov/pubmed/22197486.