Are we diagnosing too late? RAG deficiency in young adults with end organ damage

Evans syndrome in the background of 22q11.2 deletion syndrome

“…In a study on treatment selection and response for patients with pDGS with AIC, four out of seven pDGS patients with ES had refractory cytopenias requiring second-line immunomodulation including rituximab and sirolimus 8. Among those four patients, there was a background of antibody deficiency and lower naïve T-cell counts compared to pDGS patients with mild AIC 8. We observed similar immunophenotypes inour two patients, and recommend extensive B-and T-cell immunophenotyping at diagnosis, and close monitoring of these biomarkers for early identification of patients at risk for severe and recurrent AIC.…”

“…AIC in DGS seems to be resistant to treatment. In a study on treatment selection and response for patients with pDGS with AIC, four out of seven pDGS patients with ES had refractory cytopenias requiring second-line immunomodulation including rituximab and sirolimus 8. Among those four patients, there was a background of antibody deficiency and lower naïve T-cell counts compared to pDGS patients with mild AIC 8.…”