Table I.

Characteristics of HIES patients

PatientAgeSexMutationDomainHighest IgENIH score
Total pointsSkin abscessPneumoniaEosinophiliaNewborn rashEczemaURICandidiasisSerious infectionLung abnormalityFaceNasal widthRetained teethScoliosisFractureHyperextensibilityHigh palate
yr IU/ml
STAT3-123FΔV463DNA binding17,500582804200085384040
STAT3-211FR382WDNA binding97,900668864421082180040
STAT3-324MΔV463DNA binding62,000568064404485100002
STAT3-413MR382QDNA binding11,600418804400402100000
STAT3-516FH437YDNA binding50,600448464400005300000
STAT3-623FS636FSH225,400688804224065380440
STAT3-749FG618DSH221,300538804400482100400
STAT3-834MΔ371-380DNA binding12,300538004404405310442
TYK2-123MFrame shiftNA2,100488834421800000000
  • NA, not applicable. Possible HIES patients are evaluated by the National Institutes of Health (NIH) scoring system. If the total points of NIH score are >40 points, the patient is considered as HIES clinically. NIH score is defined as follows. If the highest serum IgE level is >2,000 IU/ml, the patient scores 10 points. Skin abscess: 8 points indicate more than four, and 2 points indicate one or two episodes of skin abscess in lifetime. Pneumonia: 8 points indicate more than three, and 4 points indicate two episodes of pneumonia in lifetime. Eosinophilia: 6 points indicate >800 eosinophils/µl, and 3 points indicate 700–800 eosinophils/µl of blood (700/µl = 1 SD and 800/µl = 2 SD above the mean value from normal individuals). Newborn rash: 4 points indicate newborn rash is present. Eczema: 4 points indicate eczema is severe, and 2 points indicate eczema is moderate in worst stage. Upper respiratory infections (URI): 2 points indicate the patient sufferers from upper respiratory infections six to four times, 1 point indicates three times per year. Candidiasis: 4 points indicate the patient has systemic candidiasis, and 1 point indicates oral candidiasis. Serious infections: 8 points indicate the patient has episodes of fatal and serious infection, and 4 points indicate the patient has an episode of serious infection. Lung abnormality: 8 points indicate the patient has pneumatocele, and 6 points indicate the patient has bronchiectasis. Face: 5 points indicate the patient has typical characteristic facial appearance, and 2 points indicate mild characteristic facial appearance. Nasal width: 3 points indicate the patient has nasal width of >2 SD, and 1 point indicates nasal width with 1–2 SD. Retained teeth: 8 points indicate the patient has more than three retained primary teeth, and 1 point indicates the patient has one retained primary tooth. Scoliosis: 4 points indicate the patient has scoliosis of 15–20°, and 2 points indicate scoliosis of 10–14°. Fracture: 4 points indicate the patient has one or two episodes of fracture with minor trauma. Hyperextensibility: 4 points indicate the patient has hyperextensible joints. High palate: 2 points indicate the patient has a high palate. In all items, 0 points indicate the finding is absent. None of the patients have lymphoma or midline anomaly.