Evans Syndrome as First Manifestation of Primary Immunodeficiency in Clinical Practice

J Pediatr Hematol Oncol. 2017 Oct;39(7):490-494. doi: 10.1097/MPH.0000000000000880.

Abstract

Background: Evans syndrome (ES) is a rare immune disorder in children, manifested by simultaneous or sequential autoimmune cytopenias (ACs) of unknown cause and having a chronic course with periods of exacerbation and remission. Some primary immunodeficiencies (PIDs) may present with autoimmune manifestations without infections, masking suspicion of them. The PIDs that can typically manifest as ES are autoimmune lymphoproliferative syndrome and common variable immunodeficiency (CVID).

Materials and methods: Review of clinical charts and laboratory results of pediatric patients followed-up in the outpatient clinic of PID with a diagnosis of ES and humoral immunodeficiency.

Results: Three pediatric patients, a boy and 2 girls, presented with corticosteroid-dependent ES. In the diagnostic approach, autoimmune lymphoproliferative syndrome was ruled out, and during follow-up, patients showed laboratory signs of humoral immune deficiency and were diagnosed with CVID. After initiating the recommended treatment for CVID with AC, patients improved without new exacerbations.

Conclusions: These cases highlight the importance of detection of possible PID in the context of ES and the establishment of CVID treatment to control AC.

Publication types

  • Case Reports

MeSH terms

  • Anemia, Hemolytic, Autoimmune / immunology*
  • Autoimmune Lymphoproliferative Syndrome
  • Child
  • Child, Preschool
  • Common Variable Immunodeficiency / diagnosis*
  • Common Variable Immunodeficiency / therapy
  • Diagnosis, Differential
  • Female
  • Humans
  • Immunologic Deficiency Syndromes / pathology*
  • Male
  • Thrombocytopenia / immunology*

Supplementary concepts

  • Evans Syndrome