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Primary Immunodeficiency in Children With Autoimmune Cytopenias: Retrospective 154-Patient Cohort
Emma Westermann-Clark1,2, Cristina Adelia Meehan1, Anna K Meyer3,4
1Division of Allergy and Immunology, Department of Pediatrics, Morsani College of Medicine, University of South Florida, Tampa, FL, United States.
Insights
Primary immunodeficiency (PID) is common in pediatric autoimmune cytopenia (AIC). Key indicators include infections, splenomegaly, and low immunoglobulin and T cell levels, aiding early diagnosis and treatment.
Area of Science:
- Immunology
- Pediatric Hematology
- Clinical Diagnostics
Background:
- Primary immunodeficiency (PID) frequently co-occurs with autoimmune cytopenia (AIC).
- Identifying PID in pediatric AIC patients is crucial for effective management.
Purpose of the Study:
- To identify clinical features and biomarkers for early PID diagnosis in pediatric AIC patients.
- To facilitate timely and targeted therapeutic interventions.
Main Methods:
- Retrospective review of electronic medical records from a pediatric tertiary care center.
- Analysis of 154 pediatric patients with AIC, comparing those with and without PID.
- Evaluation of immunoglobulin levels, vaccine titers, lymphocyte subsets, autoantibodies, and clinical data.
Main Results:
- Patients with AIC and PID exhibited splenomegaly, short stature, and recurrent infections.
- Autoimmune hemolytic anemia (AIHA) or Evans syndrome was more prevalent in the AIC-PID group.
- Low T cells (CD3, CD8), low immunoglobulins (IgG, IgA), and specific autoantibodies characterized AIC-PID patients.
Conclusions:
- Pediatric AIC patients, particularly those with Evans syndrome or AIHA, require evaluation for underlying PID.
- Lymphocyte subset analysis and immunoglobulin levels can rapidly screen for PID.
- Early detection of comorbid PID and AIC can improve patient outcomes and guide targeted therapies.
Background:
Primary immunodeficiency is common among patients with autoimmune cytopenia.
Objective:
The 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.
Methods:
Electronic 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.
Results:
Clinical 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.
Conclusions:
AIC 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.
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