Autoimmune cytopenias associated with autoantibodies to nuclear envelope polypeptides

Am J Hematol. 2004 Nov;77(3):241-9. doi: 10.1002/ajh.20188.

Abstract

A subset of anti-nuclear autoantibodies (ANA) are directed against nuclear envelope (NE) polypeptides and display by indirect immunofluorescence (IIF) a ring-like fluorescent pattern. We report herein 19 patients with autoimmune cytopenias associated with antibodies (Abs) to NE polypeptides. Anti-NE specificity was determined by immunoblot, using NE preparations and purified lamina fractions. Eleven sera reacted with lamin B(1), and two reacted with both lamin B(1) and an unidentified 150-kDa protein (p150). One serum reacted with only p150. Four sera reacted with lamins A and C, and one reacted with and an unidentified 52-kDa NE polypeptide (p52). Autoimmune cytopenias included hemolytic anemia (7 cases), thrombocytopenia (13 cases), and neutropenia (6 cases). Five patients had 2 (3 cases) or 3 (2 cases) different cytopenias. Antiphospholipid antibodies (APLA) were detected in 14 patients, 2 of whom experienced thromboembolic events. A liver disorder was present in 7 patients. Systemic lupus erythematosus and lupus-like syndrome were diagnosed in 11 and 2 patients, respectively. Cytopenias responded to steroids alone (13 patients), or together with intravenous immunoglobulins (2 patients), or cyclophosphamide (2 patients). Two patients did not require treatment. Our results suggest that anti-NE Abs need to be sought for in patients with peripheral cytopenias, particularly when they are associated with APLA and/or liver disorders. Their detection strongly suggests an autoimmune process. Such cytopenias are often manifestations of a lupus or lupus-like disease and are responsive to steroids.

MeSH terms

  • Adolescent
  • Adult
  • Aged
  • Anemia, Hemolytic, Autoimmune / complications
  • Anemia, Hemolytic, Autoimmune / drug therapy
  • Anemia, Hemolytic, Autoimmune / immunology
  • Anemia, Hemolytic, Autoimmune / pathology
  • Autoantibodies / immunology*
  • Autoimmune Diseases / complications
  • Autoimmune Diseases / drug therapy
  • Autoimmune Diseases / immunology*
  • Autoimmune Diseases / pathology
  • Coombs Test
  • Female
  • Follow-Up Studies
  • Humans
  • Immunoblotting
  • Liver Diseases / complications
  • Liver Diseases / pathology
  • Male
  • Middle Aged
  • Neutropenia / complications
  • Neutropenia / drug therapy
  • Neutropenia / immunology
  • Neutropenia / pathology
  • Nuclear Envelope / immunology*
  • Nuclear Proteins / immunology*
  • Pancytopenia / complications
  • Pancytopenia / drug therapy
  • Pancytopenia / immunology*
  • Pancytopenia / pathology
  • Peptides / immunology
  • Purpura, Thrombocytopenic / complications
  • Purpura, Thrombocytopenic / drug therapy
  • Purpura, Thrombocytopenic / immunology
  • Purpura, Thrombocytopenic / pathology
  • Retrospective Studies
  • Treatment Outcome
  • Vasculitis / complications
  • Vasculitis / pathology

Substances

  • Autoantibodies
  • Nuclear Proteins
  • Peptides