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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.
Diagnosis
Diagnostic recommendations
Additional Information
Therapeutic options
- Bone marrow transplantation. Other recommendations include intravenous gamma-globulin infusion, irradiation of all blood products, agressive treatment of infections with antibacterials, antifungals, and antivirals. Nutritional support. Gene therapy is predicted to work for JAK3 mutations based on murine studies.
- Severe combined immunodeficiency, eMedicine
- BMT for Severe Combined Immunodeficiencies
- Gene therapy of human severe combined immunodeficiency (SCID)-X1 disease