title: Combined immunodeficiency due to JAK3 mutation in a child presenting with skin granuloma.
authors.affiliation: University Department of Pediatrics, DPUO, Unit of Immune and Infectious Diseases, Bambino Gesù Children's Hospital, Rome, Italy. Electronic address: alessia.scarselli@gmail.com.
authors.forename: Alessia
authors.initials: A
authors.lastname: Scarselli
authors.affiliation: University Department of Pediatrics, DPUO, Unit of Immune and Infectious Diseases, Bambino Gesù Children's Hospital, Rome, Italy.
authors.forename: Silvia
authors.initials: S
authors.lastname: Di Cesare
authors.affiliation: University Department of Pediatrics, DPUO, Unit of Immune and Infectious Diseases, Bambino Gesù Children's Hospital, Rome, Italy.
authors.forename: Gigliola
authors.initials: G
authors.lastname: Di Matteo
authors.affiliation: University Department of Pediatrics, DPUO, Unit of Immune and Infectious Diseases, Bambino Gesù Children's Hospital, Rome, Italy.
authors.forename: Arianna
authors.initials: A
authors.lastname: De Matteis
authors.affiliation: University Department of Pediatrics, DPUO, Unit of Immune and Infectious Diseases, Bambino Gesù Children's Hospital, Rome, Italy.
authors.forename: Paola
authors.initials: P
authors.lastname: Ariganello
authors.affiliation: University Department of Pediatrics, DPUO, Unit of Immune and Infectious Diseases, Bambino Gesù Children's Hospital, Rome, Italy.
authors.forename: Maria Luisa
authors.initials: ML
authors.lastname: Romiti
authors.affiliation: Immunology and Pharmacotherapy Area, Bambino Gesù Children's Hospital, Rome, Italy.
authors.forename: Simona
authors.initials: S
authors.lastname: Cascioli
authors.affiliation: Department of Pathology, Bambino Gesù Children's Hospital, Rome, Italy.
authors.forename: Rita
authors.initials: R
authors.lastname: De Vito
authors.affiliation: Department of Pediatric Hematology and Oncology, Bambino Gesù Children's Hospital, Rome, Italy.
authors.forename: Alice
authors.initials: A
authors.lastname: Bertaina
authors.affiliation: Department of Pediatric Hematology and Oncology, Bambino Gesù Children's Hospital, Rome, Italy.
authors.forename: Franco
authors.initials: F
authors.lastname: Locatelli
authors.affiliation: Centre for Immunodeficiency, Molecular Immunology Unit, UCL Institute of Child Health, London, United Kingdom.
authors.forename: H Bobby
authors.initials: HB
authors.lastname: Gaspar
authors.affiliation: University Department of Pediatrics, DPUO, Unit of Immune and Infectious Diseases, Bambino Gesù Children's Hospital, Rome, Italy; San Raffaele Telethon Institute for Gene Therapy (HSR-TIGET), Scientific Institute HS Raffaele, Milan, Italy.
authors.forename: Alessandro
authors.initials: A
authors.lastname: Aiuti
authors.affiliation: University Department of Pediatrics, DPUO, Unit of Immune and Infectious Diseases, Bambino Gesù Children's Hospital, Rome, Italy.
authors.forename: Paolo
authors.initials: P
authors.lastname: Rossi
authors.affiliation: Great Ormond Street Hospital for Children NHS Foundation Trust, London, United Kingdom.
authors.forename: Kimberly
authors.initials: K
authors.lastname: Gilmour
authors.affiliation: University Department of Pediatrics, DPUO, Unit of Immune and Infectious Diseases, Bambino Gesù Children's Hospital, Rome, Italy. Electronic address: cancrini@med.uniroma2.it.
authors.forename: Caterina
authors.initials: C
authors.lastname: Cancrini
mesh_terms: D001402:B-Lymphocytes / Q000276:immunology / Q000378:metabolism; D001706:Biopsy; D002675:Child, Preschool; D003937:Diagnosis, Differential; D005260:Female; D015870:Gene Expression; D006099:Granuloma / Q000175:diagnosis*; D006801:Humans; D016130:Immunophenotyping; D053616:Janus Kinase 3 / Q000235:genetics* / Q000378:metabolism; D009154:Mutation; D016511:Severe Combined Immunodeficiency / Q000175:diagnosis / Q000235:genetics*; D012871:Skin Diseases / Q000175:diagnosis*; D013601:T-Lymphocytes / Q000276:immunology / Q000378:metabolism
chemical_list: D053616:Janus Kinase 3