title: LRBA gene deletion in a patient presenting with autoimmunity without hypogammaglobulinemia.
authors.forename: Siobhan O
authors.initials: SO
authors.lastname: Burns
authors.forename: Helen L
authors.initials: HL
authors.lastname: Zenner
authors.forename: Vincent
authors.initials: V
authors.lastname: Plagnol
authors.forename: James
authors.initials: J
authors.lastname: Curtis
authors.forename: Kin
authors.initials: K
authors.lastname: Mok
authors.forename: Michael
authors.initials: M
authors.lastname: Eisenhut
authors.forename: Dinakantha
authors.initials: D
authors.lastname: Kumararatne
authors.forename: Rainer
authors.initials: R
authors.lastname: Doffinger
authors.forename: Adrian J
authors.initials: AJ
authors.lastname: Thrasher
authors.forename: Sergey
authors.initials: S
authors.lastname: Nejentsev
mesh_terms: D048868:Adaptor Proteins, Signal Transducing / Q000235:genetics*; D000361:Agammaglobulinemia / Q000150:complications / Q000235:genetics* / Q000503:physiopathology; D000743:Anemia, Hemolytic / Q000150:complications / Q000235:genetics* / Q000503:physiopathology; D001327:Autoimmune Diseases / Q000150:complications / Q000235:genetics* / Q000503:physiopathology; D002461:Cell Line, Transformed; D002648:Child; D002675:Child, Preschool; D003241:Consanguinity; D004252:DNA Mutational Analysis; D004893:Erythema Nodosum / Q000150:complications / Q000235:genetics* / Q000503:physiopathology; D059472:Exome / Q000235:genetics; D005260:Female; D006720:Homozygote; D006801:Humans; D017384:Sequence Deletion / Q000235:genetics
chemical_list: D048868:Adaptor Proteins, Signal Transducing; C428703:LRBA protein, human