A novel EP300 mutation associated with Rubinstein-Taybi syndrome type 2 presenting as combined immunodeficiency-Reference-Cited by-同舟云学术

A novel EP300 mutation associated with Rubinstein-Taybi syndrome type 2 presenting as combined immunodeficiency

Published:2018-09-28 Issue:7 Volume:29 Page:776-781
ISSN:0905-6157
Container-title:Pediatric Allergy and Immunology
language:en
Short-container-title:Pediatr Allergy Immunol

Author:

Saettini Francesco¹^ORCID,Moratto Daniele²³,Grioni Andrea¹⁴⁵,Maitz Silvia⁶,Iascone Maria⁷,Rizzari Carmelo¹,Pavan Fabio¹,Spinelli Marco¹,Bettini Laura Rachele¹,Biondi Andrea¹⁵,Badolato Raffaele²³⁸

Affiliation:

1. Department of Pediatrics; Fondazione MBBM; University of Milano-Bicocca; Monza Italy

2. Department of Pathology; Institute for Molecular Medicine A. Nocivelli; Laboratory of Genetic Disorders of Childhood; University of Brescia; Brescia Italy

3. Department of Molecular and Translational Medicine; University of Brescia; Brescia Italy

4. Faculty of Science; National Centre for Biomolecular Research; Masaryk University; Brno Czech Republic

5. Centro Ricerca Tettamanti; Fondazione MBBM; Monza Italy

6. Clinical Pediatric Genetics Unit, Pediatrics Clinics; Fondazione MBBM; San Gerardo Hospital; Monza Italy

7. USSD Laboratorio di Genetica Medica; Azienda Socio Sanitaria Territoriale Papa Giovanni XXIII; Bergamo Italy

8. Department of Clinical and Experimental Sciences; Pediatrics Clinic and Institute for Molecular Medicine A. Nocivelli; University of Brescia, Spedali Civili di Brescia; Brescia Italy

Publisher

Wiley

Subject

Immunology,Immunology and Allergy,Pediatrics, Perinatology, and Child Health

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1111/pai.12968/fullpdf

Reference10 articles.

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2. Evaluation of the immune humoral response of Brazilian patients with Rubinstein-Taybi syndrome;Torres;Braz J Med Biol Res,2010

3. Rubinstein-Taybi syndrome associated with humoral immunodeficiency;Pasic;J Investig Allergol Clin Immunol,2015

4. Progressive severe B cell deficiency in pediatric Rubinstein-Taybi syndrome;Lougaris;Clin Immunol,2016

5. Analysis of the RelA:CBP/p300 interaction reveals its involvement in NF-κB-driven transcription;Mukherjee;PLoS Biol,2013

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3. Identical EP300 variant leading to Rubinstein–Taybi syndrome with different clinical and immunologic phenotype;American Journal of Medical Genetics Part A;2022-03-09

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