PReS-FINAL-2346: Hypomorphic RAG deficiencies: phenotypic variability and usefulness of TREC/KREC as diagnostic biomarkers
Introduction An increasing number of patients with combined immunodeficiencies have been found to carry hypomorphic variants of genes that otherwise cause severe combined immunodeficiency (SCID). These patients not only present with recurrent and sometimes life-threatening infections, but also with immunodysregulatory symptoms such as autoimmune cytopenias and granulomas, and are a diagnostic challenge.