Mutation | Inheritance | Cases reported | Clinical distinctive characteristics | Management |
---|---|---|---|---|
STAT3 | AD | 300-400 (in U.S.); 0.5-1 per million | Skeletal and dental abnormalities | Non-immunologic evaluation and treatment, prophylactic antibiotics +/- antifungals |
TYK2 | AR | 1-2 (none in U.S.) | No pneumatoceles, recurrent viral infections, mycobacterial infection | Prophylactic antibiotics +/- antifungals +/- antivirals |
DOC8 | AR | 50-60 | Recurrent viral infections, food allergies/rhinitis, lymphopenia, increased risk of malignancy, CNS vasculitis | Prophylactic antibiotics and antivirals +/- antifungals, IVIG if antibody deficiency, allogeneic hematopoietic stem cell transplantation |