![]() Prompt recognition of RAG deficiency in patients with early onset of autoimmune/hyperinflammatory manifestations could contribute to the choice of a timely and specific treatment preventing the onset of other complications. Severe and early autoimmune refractory cytopenia is frequent and could be the first symptom of onset. Infections may influence genotype–phenotype correlation and function as trigger for immune dysregulation or autoimmune manifestations. We reinforce the notion that different clinical phenotype can be found in patients with identical mutations even within the same family. Eighteen patients underwent HSCT permitting definitive control of autoimmune/hyperinflammatory manifestations in twelve of them (80%). B lymphocytes were variably detected in LS/AS and CID groups. Total lymphocytes count was reduced or almost lacking in SCID group and higher in OS patients. Five patients experienced severe autoimmune cytopenia refractory to different lines of therapy. Fifteen out of 22 (68.2%) patients presented autoimmune or inflammatory manifestations. Infections and autoimmunity occurred together in the majority of cases (63.6%). The primary symptom at presentation was infections (81.8%). ![]() Three novel mutations in RAG1 gene and one in RAG2 were reported. Patients represented a broad spectrum of RAG deficiencies: SCID, OS, LS/AS, and CID. Immunological and genetic features were investigated by multiparametric flow cytometry and by Sanger or next generation sequencing (NGS) as appropriate. We described clinical, immunological, and molecular characterization within a cohort of 22 RAG patients focused on the possible correlation between clinical and genetic data.
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