title: A novel FOXP3 mutation causing fetal akinesia and recurrent male miscarriages.
authors.affiliation: Department of Immunology, University Hospital Southampton NHS Foundation Trust Southampton, UK. Electronic address: will.rae@nhs.net.
authors.forename: William
authors.initials: W
authors.lastname: Rae
authors.affiliation: Academic Unit of Cancer Sciences, Faculty of Medicine, University of Southampton and Southampton NIHR Experimental Cancer Medicine Centre, Southampton, UK.
authors.forename: Yifang
authors.initials: Y
authors.lastname: Gao
authors.affiliation: Wessex Regional Genetics Laboratory, Salisbury District Hospital, Salisbury, UK.
authors.forename: David
authors.initials: D
authors.lastname: Bunyan
authors.affiliation: Department of Cellular Pathology, University Hospital Southampton NHS Foundation Trust, UK.
authors.forename: Samantha
authors.initials: S
authors.lastname: Holden
authors.affiliation: Immunology, Great Ormond Street Hospital NHS Foundation Trust, London, UK.
authors.forename: Kimberly
authors.initials: K
authors.lastname: Gilmour
authors.affiliation: Department of Paediatric Immunology & Infectious Diseases, Southampton Children's Hospital, UK.
authors.forename: Sanjay
authors.initials: S
authors.lastname: Patel
authors.affiliation: Immunology, Great Ormond Street Hospital NHS Foundation Trust, London, UK.
authors.forename: Diana
authors.initials: D
authors.lastname: Wellesley
authors.affiliation: Department of Immunology, University Hospital Southampton NHS Foundation Trust Southampton, UK; Academic Unit of Cancer Sciences, Faculty of Medicine, University of Southampton and Southampton NIHR Experimental Cancer Medicine Centre, Southampton, UK.
authors.forename: Anthony
authors.initials: A
authors.lastname: Williams
mesh_terms: D000026:Abortion, Habitual / Q000235:genetics*; D000328:Adult; D001176:Arthrogryposis / Q000235:genetics*; D004252:DNA Mutational Analysis / Q000379:methods; D005260:Female; D051858:Forkhead Transcription Factors / Q000235:genetics*; D020022:Genetic Predisposition to Disease / Q000235:genetics*; D006801:Humans; D008297:Male; D009154:Mutation; D011247:Pregnancy
chemical_list: C418974:FOXP3 protein, human; D051858:Forkhead Transcription Factors
keywords: FOXP3; Fetal IPEX; Fetal akinesia; Primary immunodeficiency; Recurrent miscarriage