C2 Deficiency and a Lupus Erythematosus-Like Illness: Family Re-evaluation
Authors: Richard Wahl, Tommaso Meo, Donald Shreffler, William Miller, John P. Atkinson, Jane Schultz, C. K. Osterland
Journal: Annals of Internal Medicine (1979)

Letters and Corrections1 April 1979C2 Deficiency and a Lupus Erythematosus-Like Illness: Family Re-evaluationRICHARD WAHL, M.D., TOMMASO MEO, M.D., DONALD SHREFFLER, M.D., WILLIAM MILLER, M.D., JOHN P. ATKINSON, M.D., JANE SCHULTZ, M.D., C. K. OSTERLAND, M.D.RICHARD WAHL, M.D.Search for more papers by this author, TOMMASO MEO, M.D.Search for more papers by this author, DONALD SHREFFLER, M.D.Search for more papers by this author, WILLIAM MILLER, M.D.Search for more papers by this author, JOHN P. ATKINSON, M.D.Search for more papers by this author, JANE SCHULTZ, M.D.Search for more papers by this author, C. K. OSTERLAND, M.D.Search for more papers by this authorAuthor, Article, and Disclosure Informationhttps://doi.org/10.7326/0003-4819-90-4-717_3 SectionsAboutPDF ToolsAdd to favoritesDownload CitationsTrack CitationsPermissions ShareFacebookTwitterLinkedInRedditEmail ExcerptTo the editor: A family with inherited C2 deficiency (C2D) and systemic lupus erythematosus was previously described by one of us in the March 1975 issue (1). Subsequent to this report, the gene responsible for C2D and C2 polymorphism has been shown to be linked to HLA in man (2). In light of this new information, we re-evaluated this interesting family (Figure 1). The proband is a 27-year-old white woman whose clinical history was described previously (1). At age 5 she developed discoid lupus erythematosus. At age 20 she presented with rash, fever, hemolytic anemia, thrombocytopenia, active renal sedi- ment,...References1. OSTERLANDEZPINOZAPARKERSCHUR CLLP: Inherited C2 deficiency and systemic lupus erythematosus: studies on a family. Ann Intern Med 82:323-328, 1975 LinkGoogle Scholar2. LACHMANNHOBART PM: Complement genetics in relation to HLA. Br Med Bull 34:247-252, 1978 CrossrefMedlineGoogle Scholar3. MEOATKINSONBERNOCOBERNOCOCEPPELLINI TJMDR: Structural heterogeneity of C2 complement protein and its genetic variants in man: a new polymorphism of the HLA region. Proc Natl Acad Sci USA 74:1672-1675, 1977 CrossrefMedlineGoogle Scholar4. ALPER C: Inherited structural polymorphism in human C2: evidence for a genetic linkage between C2 and Bf. J Exp Med 144:1111-1115, 1976 CrossrefMedlineGoogle Scholar5. PORISERRAUMBERKMANALPERAGNELLO KDECV: Evidence for a silent of null gene in hereditary C2 deficiency. J Immunol 121:2580-2581, 1978 MedlineGoogle Scholar This content is PDF only. To continue reading please click on the PDF icon. Author, Article, and Disclosure InformationAuthors: RICHARD WAHL, M.D.; TOMMASO MEO, M.D.; DONALD SHREFFLER, M.D.; WILLIAM MILLER, M.D.; JOHN P. ATKINSON, M.D.; JANE SCHULTZ, M.D.; C. K. OSTERLAND, M.D.Affiliations: McGill University School of Medicine Montreal, PQ H3A 1A1, Canada PreviousarticleNextarticle Advertisement FiguresReferencesRelatedDetails Metrics Cited bySystemic Lupus Erythematosus in Children and Young PeopleMonogenic lupusJuvenile-onset systemic lupus erythematosus: Update on clinical presentation, pathophysiology and treatment optionsJuvenile-onset systemic lupus erythematosus (jSLE) – Pathophysiological concepts and treatment optionsMonogenic LupusNew insights into the immunopathogenesis of systemic lupus erythematosusReflections on my association with Henry G. KunkelMonogenic lupusLupus diseases associated with hereditary and acquired deficiencies of complementThrombotic thrombocytopenic purpura developing during pregnancy in A C2-deficient patient with a history of systemic lupus erythematosusSex influences transmission of the supratype associated with the C2 deficiency allele: A possible mechanism for the maintenance of heterozygosity and disease susceptibilityInherited disorders of complementInherited Complement Deficiency States and SLE 1 April 1979Volume 90, Issue 4Page: 717-718KeywordsFeversHemolytic anemiaHuman leukocyte antigenLupus erythematosusRashes ePublished: 1 December 2008 Issue Published: 1 April 1979 PDF downloadLoading ...