Figure 4

Omenn Syndrome in a Sardinian 5-month-old female infant (absence of RAG1-RAG2 mutations, unidentified gene defect). "Leaky" mutations of practically all SCID genes (whose null mutations cause instead typical SCID) produce Omenn syndrome, in fact described in infants with defects of RAG1-RAG2, DCLRE1C-Artemis, ADA, DNA Ligasi IV, RMRP-CHH, common γc, IL7Rα, WHN-FOXN1, ZAP-70, and complete DiGeorge anomaly (DiGeorge Syndrome; CHARGE). In many infants with Omenn syndrome, that is clinically not leaky but very serious, genetic defect remains unidentified (several known, and probably also unknown, genes to be sequenced).