title: Novel presentation of Omenn syndrome in association with aniridia.
authors.forename: William J
authors.initials: WJ
authors.lastname: Sheehan
authors.forename: Ottavia M
authors.initials: OM
authors.lastname: Delmonte
authors.forename: David T
authors.initials: DT
authors.lastname: Miller
authors.forename: Amy E
authors.initials: AE
authors.lastname: Roberts
authors.forename: Francisco A
authors.initials: FA
authors.lastname: Bonilla
authors.forename: Massimo
authors.initials: M
authors.lastname: Morra
authors.forename: Silvia
authors.initials: S
authors.lastname: Giliani
authors.forename: Sung-Yun
authors.initials: SY
authors.lastname: Pai
authors.forename: Luigi D
authors.initials: LD
authors.lastname: Notarangelo
authors.forename: Hans C
authors.initials: HC
authors.lastname: Oettgen
mesh_terms: D015783:Aniridia / Q000209:etiology*; D004268:DNA-Binding Proteins / Q000235:genetics*; D018398:Homeodomain Proteins / Q000235:genetics*; D006801:Humans; D007223:Infant; D008297:Male; D020125:Mutation, Missense; D009687:Nuclear Proteins / Q000235:genetics*; D016511:Severe Combined Immunodeficiency / Q000150:complications / Q000235:genetics*
chemical_list: D004268:DNA-Binding Proteins; D018398:Homeodomain Proteins; D009687:Nuclear Proteins; C499311:RAG2 protein, human; C064658:RAG-1 protein