title: A novel mutation in FOXN1 resulting in SCID: a case report and literature review.
authors.affiliation: Division of Immunology, Boston Children's Hospital and Department of Pediatrics, Harvard Medical School, Boston, MA, USA.
authors.forename: Janet
authors.initials: J
authors.lastname: Chou
authors.affiliation: Division of Immunology, Boston Children's Hospital and Department of Pediatrics, Harvard Medical School, Boston, MA, USA.
authors.forename: Michel J
authors.initials: MJ
authors.lastname: Massaad
authors.affiliation: Department of Pediatrics and Adolescent Medicine, American University of Beirut, Beirut, Lebanon.
authors.forename: Rima Hanna
authors.initials: RH
authors.lastname: Wakim
authors.affiliation: Division of Immunology, Boston Children's Hospital and Department of Pediatrics, Harvard Medical School, Boston, MA, USA.
authors.forename: Wayne
authors.initials: W
authors.lastname: Bainter
authors.affiliation: Department of Pediatrics and Adolescent Medicine, American University of Beirut, Beirut, Lebanon.
authors.forename: Ghassan
authors.initials: G
authors.lastname: Dbaibo
authors.affiliation: Division of Immunology, Boston Children's Hospital and Department of Pediatrics, Harvard Medical School, Boston, MA, USA. Electronic address: raif.geha@childrens.harvard.edu.
authors.forename: Raif S
authors.initials: RS
authors.lastname: Geha
mesh_terms: D017809:Fatal Outcome; D005260:Female; D051858:Forkhead Transcription Factors / Q000235:genetics / Q000378:metabolism*; D006801:Humans; D007223:Infant; D009154:Mutation; D016511:Severe Combined Immunodeficiency / Q000378:metabolism* / Q000628:therapy; D033581:Stem Cell Transplantation / Q000009:adverse effects
chemical_list: D051858:Forkhead Transcription Factors; C090140:Whn protein
keywords: FOXN1; Severe combined immunodeficiency; Whole exome sequencing