Figure 4.
The flowchart begins with the identification of Trisomy 21 and refers the individual to an immunologist. The immunologist assesses clinical history, including history of infections, autoimmune manifestations, inflammatory manifestations, and vaccine history. The physical exam includes checking for periodontal disease, lymph node exam, hepatomegaly, splenomegaly, and skin exam to assess for infection, eczema, hidradenitis suppurativa, alopecia areata, and psoriasis. Testing includes complete blood cell count to screen for lymphopenia/monocytopenia, immunoglobulin quantification, lymphocyte subsets, and vaccine titers. Management involves considering S. pneumoniae vaccine booster or additional coverage for RSV, COVID-19, and Influenza. The immunologist evaluation considers immunologic work-up including B and T cell function testing, cytokine panel, RNA-based IFN scores, vaccine boosters, and immunoglobulin replacement and/or prophylactic antibodies.
After diagnosis of DS, referral to an immunologist is recommended. Immunologists should obtain a clinical history and physical exam focused on the unique immunodeficiency and immune dysregulation findings common in individuals with DS. Initial testing can start with complete blood cell count with differential, immunoglobulin quantification, lymphocyte subsets, and vaccine titers. Management should start with optimizing vaccine responses through boosters if needed and further immunological evaluation and treatment can be considered.