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

Francesco Saettini; Daniele Moratto; Andrea Grioni; Silvia Maitz; Maria Iascone; Carmelo Rizzari; Fabio Pavan; Marco Spinelli; Laura Rachele Bettini; Andrea Biondi; Raffaele Badolato

doi:10.1111/pai.12968

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

Pediatr Allergy Immunol. 2018 Nov;29(7):776-781. doi: 10.1111/pai.12968. Epub 2018 Sep 28.

Authors

Francesco Saettini¹, Daniele Moratto^{2

3}, Andrea Grioni^{1

4

5}, Silvia Maitz⁶, Maria Iascone⁷, Carmelo Rizzari¹, Fabio Pavan¹, Marco Spinelli¹, Laura Rachele Bettini¹, Andrea Biondi^{1

5}, Raffaele Badolato^{2

3

8}

Affiliations

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.

PMID: 30076641
DOI: 10.1111/pai.12968

No abstract available

Keywords: Rubinstein-Taybi syndrome; autoimmune lymphoproliferative syndrome; combined immunodeficiency; common variable immunodeficiency; syndromic immunodeficiency.

Publication types

Case Reports
Letter

MeSH terms

Adolescent
E1A-Associated p300 Protein / genetics*
Humans
Male
Mutation, Missense
Rubinstein-Taybi Syndrome / complications
Rubinstein-Taybi Syndrome / genetics*
Severe Combined Immunodeficiency / etiology*
Severe Combined Immunodeficiency / genetics

Substances

E1A-Associated p300 Protein
EP300 protein, human