title: Massively parallel sequencing reveals maternal somatic IL2RG mosaicism in an X-linked severe combined immunodeficiency family.
authors.affiliation: Pediatric Allergy and Clinical Immunology Department, Hospital Sant Joan de Déu-Universitat de Barcelona, Barcelona, Spain.
authors.forename: Laia
authors.initials: L
authors.lastname: Alsina
authors.affiliation: Immunology Department, Hospital Clínic, IDIBAPS, Universitat de Barcelona, Barcelona, Spain.
authors.forename: Eva
authors.initials: E
authors.lastname: González-Roca
authors.affiliation: Pediatric Allergy and Clinical Immunology Department, Hospital Sant Joan de Déu-Universitat de Barcelona, Barcelona, Spain.
authors.forename: María Teresa
authors.initials: MT
authors.lastname: Giner
authors.affiliation: Pediatric Allergy and Clinical Immunology Department, Hospital Sant Joan de Déu-Universitat de Barcelona, Barcelona, Spain.
authors.forename: Mónica
authors.initials: M
authors.lastname: Piquer
authors.affiliation: Institut Municipal d'Investigació Mèdica, Hospital del Mar, Barcelona, Spain.
authors.forename: Irene
authors.initials: I
authors.lastname: Puga
authors.affiliation: Immunology Department, Hospital Clínic, IDIBAPS, Universitat de Barcelona, Barcelona, Spain.
authors.forename: Mariona
authors.initials: M
authors.lastname: Pascal
authors.affiliation: Immunology Department, Hospital Clínic, IDIBAPS, Universitat de Barcelona, Barcelona, Spain.
authors.forename: Estibaliz
authors.initials: E
authors.lastname: Ruiz-Ortiz
authors.affiliation: Pediatrics Department, Hospital de la Santa Creu i Sant Pau, Universitat Autonoma de Barcelona, Barcelona, Spain.
authors.forename: Isabel
authors.initials: I
authors.lastname: Badell
authors.affiliation: Pediatric Allergy and Clinical Immunology Department, Hospital Sant Joan de Déu-Universitat de Barcelona, Barcelona, Spain.
authors.forename: María Anunciación
authors.initials: MA
authors.lastname: Martín-Mateos
authors.affiliation: Institut Municipal d'Investigació Mèdica, Hospital del Mar, Barcelona, Spain.
authors.forename: Andrea
authors.initials: A
authors.lastname: Cerutti
authors.affiliation: Immunology Department, Hospital Clínic, IDIBAPS, Universitat de Barcelona, Barcelona, Spain.
authors.forename: Manel
authors.initials: M
authors.lastname: Juan
authors.affiliation: Immunology Department, Hospital Clínic, IDIBAPS, Universitat de Barcelona, Barcelona, Spain.
authors.forename: Jordi
authors.initials: J
authors.lastname: Yagüe
authors.affiliation: Pediatric Allergy and Clinical Immunology Department, Hospital Sant Joan de Déu-Universitat de Barcelona, Barcelona, Spain.
authors.forename: Ana M
authors.initials: AM
authors.lastname: Plaza
authors.affiliation: Immunology Department, Hospital Clínic, IDIBAPS, Universitat de Barcelona, Barcelona, Spain. Electronic address: jiaroste@clinic.ub.es.
authors.forename: Juan I
authors.initials: JI
authors.lastname: Aróstegui
mesh_terms: D005260:Female; D059014:High-Throughput Nucleotide Sequencing; D006801:Humans; D053631:Interleukin Receptor Common gamma Subunit / Q000235:genetics*; D008297:Male; D009030:Mosaicism; D017422:Sequence Analysis, DNA; D053632:X-Linked Combined Immunodeficiency Diseases / Q000235:genetics*
chemical_list: C507941:IL2RG protein, human; D053631:Interleukin Receptor Common gamma Subunit