HYPER IMMUNOGLOBULIN E SYNDROME SCORING SYSTEM

Table : Scoring System with Cinical and Laboratory Test for Related Individual with HIES
CLINICAL FINDINGS
Highest serum IgE level IU/ml
Normal < 130 IU/ml
Skin abscesses
Pneumonia(episodes over lifetime)
Parenchyme lung anomalies
Retained primary teeth
Scoliosis, maximum curvature
Fracture with minor trauma
Highest eosinophil count (cell/l)
(700/ l = 1 SD, 800/ l = 2SD)
Characteristic face
Midline anomaly (cleft palate, cleft
tongue, hemivertebrae, other
vertebral anomaly)
Newborn rash
Eczema (worst stage)
Upper respiratory infections/year
Candidiasis
Other serious infections
Fatal infection
Hyperextensibility
Lymphoma
Increased nasal width
High palate
Young-age correction

Points
0
<200

200-500

None
None

500-1000
1-2
1

3-4
2

2
10-14o

3
15-20o
1-2

3
Bronchiectasis

Absent
None
<10o
None

<700

700-800

8
10002000
>4
>3
Pneumatocele
>3
>20o
>2

10
>2000

>800

Mildly
present

Absent

Present

Absent

Present

Absent
Absent
1-2

Mild
3

None

Oral

Moderate
4-6
Finger
nails

Present
Severe
>6
Systemic

None
Severe
Absent
Present
Absent
Present
Absent
Present
<1SD
1-2SD
>2SD
Absent
Present
>5 years
2-5 years
1-2 years
1 year
National Institutes of Health (NIH) score : 15 points : hyper-IgE phenotype highly propable 1 40 points : clininal phenotype (correlates withSTAT3 mutation) 2
0-15:unaffected ; 16-39:possibly affected ; 40-59:probably affected ; 60:definitively affected ( For AD-HIES, not for AR-HIES)

Reference
1. Szczwinska-Poplonyk A, Kycler Z, Pietrucha B, Heropolitanska-Pliszka E, Breborowicz A, Gerreth K. The hyperimmunoglobulin E syndrome-clinical manifestation diversity
in primary immune deficiency. J Rare Dis. 2011;6:76.
2. Schimke LF, Sawalle-Belohradsky J, Roesler J, Wollenberg A, Rack A, Borte M, et al. Diagnostic approach to the hyper-IgE syndromes: Immunologic and clinical key
findings to differentiate hyper-IgE syndromes from atopic dermatitis. J Allergy Clin Immunol. 2010;126:611-7.