Background: Primary immunodeficiency is common diagnosis among patients with autoimmune cytopenia. Autoimmunity and immune dysregulation causing immune cytopenias might be an initial presentation in some patients. Case Presentation: We report 2 patients who presented with single lineage cytopenia. Patient 1: 19y/o female who was admitted 4 years ago with severe anemia. Work up showed H/H 6.7/19, retic 8%. Antibody screen positive, warm, and cold autoantibodies, Mycoplasma IgG and IgM were positive. She was diagnosed with autoimmune hemolytic anemia. She had 4 recurrences and was treated with systemic steroids with a positive response. No history of recurrent infections but had chronic lymphopenia off steroids. Immune work up showed low CD4, increased double negative T-cells (17%). Genetic testing for ALPS was negative but she met criteria for ALPS type3. She was started on Sirolimus 6mo ago and is maintaining a stable hemoglobin. Patient 2: 15y/o male with chronic refractory ITP, who also had history of AIHA, achieved remission after a course of IVIG at age 5. At age 9, he was diagnosed with ITP. He was treated with steroids, IVIG and rituximab over the course of 2 years. He remained in remission for 3 years but recently developed chronic ITP. Immunology work up revealed very low IgG and IgA, low naïve T cells, significantly decreased class switched memory B cells and absent plasmablasts. He had the classical findings of common variable immunodeficiency and was started on IgG replacement therapy and sirolimus, after the completion of short steroid course for chronic ITP. Conclusion: Patients with a history of chronic or multilineage immune cytopenias should be investigated further for autoimmune disorders or an underlying immune deficiency/immune dysregulation. Immunoglobulin substitution and steroid sparing therapy are fundamental in these patients. Early diagnosis may reduce treatment failure, morbidity, mortality, and long-term steroid therapy associated adverse effects.
Abraham, Shirley and Elif Dokmeci. "Autoimmune Cytopenia(s) might be initial presentation of Primary Immunodeficiency and Immune Dysregulation Disorders." (2022). https://digitalrepository.unm.edu/hsc_2022_pediatric_research/1