Patients must be referred to the NIH with a diagnosis or a suspicion of Hyper IgE syndrome. Family members of probands and patients referred for other immune syndromes that demonstrate some of the characteristics of HIES may also be evaluated under this protocol. Male and female patients will be accepted. An inclusion age range will be constructed to accommodate at-risk infants born into affected families as well as to be able to examine the members of extended families. The extent of evaluation will be tailored to the patient s needs, age, and conditions. The cutaneous manifestations of HIE are often present at birth and need management from that time on.
Because this is often an AD disorder, it is important to evaluate family members. Family members will have labs drawn for genetic testing and additional labs as clinically indicated. Selected family members will have EBV cell lines made and all family members will receive a genetic-oriented physical examination with close examination of their palates, hyper-extensibility, etc. If on this evaluation any information is uncovered which suggests abnormalities related to Hyper IgE syndrome, then further workup would include chest X-ray or CT, possible spine films, dental evaluation, dermatology consult, and other consults or procedures deemed necessary for that particular relative. For the recessive forms of HIES, such as DOCK8 deficiency and PGM3 deficiency, family members may be evaluated as possible donors if a hematopoietic stem cell transplant is necessary.
Pregnant women are excluded only from any procedure or test that may endanger the pregnancy or the fetus due to the risk from radiographic studies, anesthesia, or certain biopsies. We have seen flares of skin disease during pregnancy and therefore believe that
enrolling and following these patients during pregnancy is appropriate.
Coronary CT angiography will not be performed on any patient with contraindication to IV contrast media. This includes patients with: 1) creatinine value of greater than 1.3 mg/dl, 2) history of multiple myeloma, 3) use of metformin-containing products less than 24 hours prior to contrast media, and 4) history of significant allergic reaction to CT contrast agents despite the use of premedication.