title: Extremely Early Onset IPEX Syndrome Caused by a Novel Small Exonic Deletion in FOXP3.
authors.affiliation: *University of Alabama, Birmingham †Kovler Diabetes Center, University of Chicago, Chicago, IL ‡University of Washington and Seattle Children's Hospital, Seattle, WA.
authors.forename: Erika
authors.initials: E
authors.lastname: Smith
authors.forename: Siri Atma W
authors.initials: SA
authors.lastname: Greeley
authors.forename: Honggang
authors.initials: H
authors.lastname: Ye
authors.forename: Troy R
authors.initials: TR
authors.lastname: Torgerson
authors.forename: Reed
authors.initials: R
authors.lastname: Dimmitt
authors.forename: Prescott
authors.initials: P
authors.lastname: Atkinson
authors.forename: Joseph
authors.initials: J
authors.lastname: Philips
authors.forename: Frederick
authors.initials: F
authors.lastname: Goldman
mesh_terms: D016026:Bone Marrow Transplantation; D003922:Diabetes Mellitus, Type 1 / Q000151:congenital* / Q000175:diagnosis / Q000235:genetics / Q000628:therapy; D003967:Diarrhea / Q000175:diagnosis* / Q000235:genetics* / Q000628:therapy; D005091:Exons / Q000235:genetics*; D017809:Fatal Outcome; D051858:Forkhead Transcription Factors / Q000235:genetics*; D017353:Gene Deletion; D040181:Genetic Diseases, X-Linked / Q000175:diagnosis* / Q000235:genetics* / Q000628:therapy; D005865:Gestational Age; D006801:Humans; D006943:Hyperglycemia; D007154:Immune System Diseases / Q000151:congenital* / Q000175:diagnosis / Q000235:genetics / Q000628:therapy; D007231:Infant, Newborn; D007236:Infant, Small for Gestational Age; D008297:Male
chemical_list: C418974:FOXP3 protein, human; D051858:Forkhead Transcription Factors