Autoimmune lymphoproliferative syndrome (ALPS): a case with congenital onset

Pediatr Dev Pathol. 2007 Jul-Aug;10(4):315-9. doi: 10.2350/06-06-0105.1.

Abstract

We describe a case of autoimmune lymphoproliferative syndrome (ALPS), which is very unusual with regard to a clinical onset soon after birth, and a clinical picture dominated by splenomegaly, jaundice, and consumptive peripheral blood cytopenias, with minimal lymphadenopathy. Our documented close follow up demonstrated initial involvement of the spleen, followed by involvement of the bone marrow and the peripheral blood. The patient underwent bone marrow transplant and is alive and well 20 months after diagnosis.

Publication types

  • Case Reports

MeSH terms

  • Abnormalities, Multiple*
  • Autoimmune Diseases / congenital
  • Autoimmune Diseases / pathology*
  • Autoimmune Diseases / therapy
  • Bone Marrow Transplantation
  • CD3 Complex / metabolism
  • Diseases in Twins
  • Humans
  • Infant, Newborn
  • Jaundice / congenital
  • Jaundice / pathology
  • Lymphoproliferative Disorders / congenital
  • Lymphoproliferative Disorders / pathology*
  • Lymphoproliferative Disorders / therapy
  • Male
  • Splenomegaly / congenital
  • Splenomegaly / pathology
  • Splenomegaly / surgery
  • Syndrome
  • T-Lymphocytes / metabolism
  • T-Lymphocytes / pathology
  • Thrombocytopenia / congenital
  • Thrombocytopenia / pathology
  • Treatment Outcome
  • Twins

Substances

  • CD3 Complex