title: Lupus erythematosus profundus with partial C4 deficiency responding to thalidomide.
abstract: A female patient with disfiguring lupus erythematosus profundus (LEP) from the age of 13 years was found to have an isolated partial C4 deficiency, with reduced levels of both allotypes, C4A and C4B. A genetic basis for the hypocomplementaemia was confirmed by a family study of complement and HLA types which revealed heterozygous null alleles for C4A and C4B in the proband. Marked improvement in her cutaneous lesions occurred with thalidomide.
authors.affiliation: St. John's Dermatology Centre, St. Thomas' Hospital, London, U.K.
authors.forename: N P
authors.initials: NP
authors.lastname: Burrows
authors.forename: M J
authors.initials: MJ
authors.lastname: Walport
authors.forename: A H
authors.initials: AH
authors.lastname: Hammond
authors.forename: N
authors.initials: N
authors.lastname: Davey
authors.forename: R R
authors.initials: RR
authors.lastname: Jones
mesh_terms: D000293:Adolescent; D003181:Complement C4 / Q000172:deficiency*; D015934:Complement C4a / Q000172:deficiency; D015935:Complement C4b / Q000172:deficiency; D005260:Female; D006801:Humans; D015435:Panniculitis, Lupus Erythematosus / Q000188:drug therapy / Q000235:genetics* / Q000473:pathology; D010375:Pedigree; D012867:Skin / Q000473:pathology; D013792:Thalidomide / Q000627:therapeutic use
chemical_list: D003181:Complement C4; D013792:Thalidomide; D015934:Complement C4a; D015935:Complement C4b