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Diagnosis and management of chronic and refractory immune cytopenias in children, adolescents, and young adults
Author(s) -
Rotz Seth J.,
Ware Russell E.,
Kumar Ashish
Publication year - 2018
Publication title -
pediatric blood and cancer
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.116
H-Index - 105
eISSN - 1545-5017
pISSN - 1545-5009
DOI - 10.1002/pbc.27260
Subject(s) - medicine , refractory (planetary science) , pediatrics , intensive care medicine , genetic testing , medical diagnosis , diagnostic test , immune thrombocytopenia , immunology , pathology , antibody , physics , astrobiology
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.