Table 2

Clinical and management features of different forms of HIES

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

Robinson et al. Clinical and Molecular Allergy 2011 9:14   doi:10.1186/1476-7961-9-14