Abstract
BackgroundPrimary immunodeficiency is common among patients with autoimmune cytopenia.ObjectiveThe purpose of this study is to retrospectively identify key clinical features and biomarkers of primary immunodeficiency (PID) in pediatric patients with autoimmune cytopenias (AIC) so as to facilitate early diagnosis and targeted therapy.MethodsElectronic medical records at a pediatric tertiary care center were reviewed. We selected 154 patients with both AIC and PID (n=17), or AIC alone (n=137) for inclusion in two cohorts. Immunoglobulin levels, vaccine titers, lymphocyte subsets (T, B and NK cells), autoantibodies, clinical characteristics, and response to treatment were recorded.ResultsClinical features associated with AIC-PID included splenomegaly, short stature, and recurrent or chronic infections. PID patients were more likely to have autoimmune hemolytic anemia (AIHA) or Evans syndrome than AIC-only patients. The AIC-PID group was also distinguished by low T cells (CD3 and CD8), low immunoglobulins (IgG and IgA), and higher prevalence of autoantibodies to red blood cells, platelets or neutrophils. AIC diagnosis preceded PID diagnosis by 3 years on average, except among those with partial DiGeorge syndrome. AIC-PID patients were more likely to fail first-line treatment.ConclusionsAIC patients, especially those with Evans syndrome or AIHA, should be evaluated for PID. Lymphocyte subsets and immune globulins serve as a rapid screen for underlying PID. Early detection of patients with comorbid PID and AIC may improve treatment outcomes. Prospective studies are needed to confirm the diagnostic clues identified and to guide targeted therapy.
Highlights
Autoimmune cytopenias (AICs), including autoimmune hemolytic anemia (AIHA), immune thrombocytopenia (ITP), autoimmune neutropenia (AIN), and their combinations (Evans syndrome [ES]), result from immune dysregulation targeting selfantigens on blood cells [1]
We examined the time to diagnosis of primary immunodeficiency (PID) in the setting of AIC, clinical and laboratory features associated with underlying PIDs, and responses to treatment
The initial search for patients with a diagnosis of AIC based on International Classification of Disease (ICD)-9 or ICD-10 codes yielded 230 medical record number (MRN) (Figure 1)
Summary
Autoimmune cytopenias (AICs), including autoimmune hemolytic anemia (AIHA), immune thrombocytopenia (ITP), autoimmune neutropenia (AIN), and their combinations (Evans syndrome [ES]), result from immune dysregulation targeting selfantigens on blood cells [1]. AICs are common immunological presentations among pediatric patients [2, 3] and most cases selfresolve or respond to first-line therapy such as corticosteroids or intravenous immunoglobulins (IVIG) [4, 5]. AICs may indicate serious underlying immune dysregulation preceding the presentation of primary immunodeficiency disorders (PIDs) [3, 6,7,8,9]. Studies in patients with ES reveal a variety of underlying PIDs including combined B and T cell abnormalities (combined immunodeficiency [CID]) and T regulatory cell (Treg) defects [3, 10,11,12]. Primary immunodeficiency is common among patients with autoimmune cytopenia
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