Diagnosis and management of chronic and refractory immune cytopenias in children, adolescents, and young adults

Pediatr Blood Cancer. 2018 Oct;65(10):e27260. doi: 10.1002/pbc.27260. Epub 2018 Jun 1.


Children, adolescents, and young adults with chronic refractory autoimmune cytopenias represent a rare but challenging group of patients, who are managed frequently by pediatric hematologists. Novel diagnostic tests and genomic discoveries are refining historical diagnoses of Evans syndrome and common variable immunodeficiency, while also elucidating the cellular and molecular basis for these disorders. Genetic characterization of chronic and refractory autoimmune cytopenias has led to targeted therapies with improved clinical outcomes and fewer off-target toxicities. In this review, we focus on the appropriate diagnostic workup, expanded genetic testing, and novel treatment opportunities that are available for these challenging patients.

Keywords: AIHA; CVID; Evans syndrome; ITP; alps; cytopenia; immunohematology.

Publication types

  • Review

MeSH terms

  • Adolescent
  • Autoimmune Diseases / diagnosis*
  • Autoimmune Diseases / therapy*
  • Child
  • Female
  • Hematologic Diseases / diagnosis*
  • Hematologic Diseases / therapy*
  • Humans
  • Male
  • Young Adult