Autoimmunity in Wiskott-Aldrich syndrome: risk factors, clinical features, and outcome in a single-center cohort of 55 patients

Pediatrics. 2003 May;111(5 Pt 1):e622-7. doi: 10.1542/peds.111.5.e622.

Abstract

Objectives: To evaluate the occurrence of autoimmune and inflammatory complications in Wiskott-Aldrich syndrome (WAS) and to determine risk factors and the prognosis of such complications with the aim of improving the definition of treatment options.

Methods: We reviewed the records of 55 patients with WAS evaluated at Necker-Enfants Malades Hospital (Paris) from 1980 to 2000.

Results: Forty patients (72%) had at least 1 autoimmune or inflammatory complication. Autoimmune hemolytic anemia was detected in 20 cases (36%); in all cases, onset occurred before the age of 5 years. Other complications included neutropenia (25%), arthritis (29%), skin vasculitis (22%), cerebral vasculitis (7%), inflammatory bowel disease (9%), and renal disease (3%). The median survival of the entire population was 14.5 years. Two autoimmune complications and 1 biological factor were predictive of a poor prognosis in this population: autoimmune hemolytic anemia, severe thrombocytopenia recurring after splenectomy, and high serum immunoglobulin M (IgM) levels before splenectomy. Autoimmune hemolytic anemia was significantly more observed in patients with high serum IgM level.

Conclusions: High serum IgM concentration before splenectomy was identified as a risk factor for autoimmune hemolytic anemia; however, it must be confirmed. Autoimmune hemolytic anemia and severe thrombocytopenia recurring after splenectomy were 2 indicators of a poor prognosis. Those results suggest that patients with WAS and IgM levels more than mean + 2 standard deviations before splenectomy should be placed under strict surveillance. Furthermore, severe autoimmune complications should lead, as early as possible, to hematopoietic stem cell transplantation using the best available donor.

Publication types

  • Multicenter Study

MeSH terms

  • Adolescent
  • Age Distribution
  • Age of Onset
  • Anemia, Hemolytic, Autoimmune / blood
  • Anemia, Hemolytic, Autoimmune / diagnosis*
  • Anemia, Hemolytic, Autoimmune / drug therapy
  • Anemia, Hemolytic, Autoimmune / mortality
  • Child
  • Child, Preschool
  • Humans
  • Immunoglobulin M / blood
  • Infant
  • Infant, Newborn
  • Male
  • Postoperative Complications / epidemiology
  • Predictive Value of Tests
  • Prognosis
  • Retrospective Studies
  • Risk Factors
  • Splenectomy / methods
  • Survival Rate
  • Thrombocytopenia / blood
  • Thrombocytopenia / diagnosis*
  • Thrombocytopenia / drug therapy
  • Thrombocytopenia / mortality
  • Treatment Outcome
  • Wiskott-Aldrich Syndrome / blood
  • Wiskott-Aldrich Syndrome / complications*
  • Wiskott-Aldrich Syndrome / mortality

Substances

  • Immunoglobulin M