JAK3 deficiency

The clinical features of JAK3 deficiency are similar with the features commonly observed in infants with X-linked SCID. This deficiency occurs since the first months of life, with recurrent bacterial or viral (Cytomegalovirus, Pneumocystis Carinii) infections, sometimes BCG-itis if the infant had received BCG vaccination during the neonatal period, severe diarrhoea and failure to thrive. Peripheral nodes are undetectable. Unless treated by successful bone marrow transplantation, JAK3 deficiency is a lethal disorder.

Therapeutic options