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Scoring system with clinical and laboratory tests for individuals in kindreds with HIES

Scoring system with clinical and laboratory tests for individuals in kindreds with HIES
Clinical findings Points*
0 1 2 3 4 5 6 7 8 10
Highest serum-IgE level (international units/mL) <200 200 to 500     501 to 1000       1001 to 2000 >2000
Skin abscesses None   1 to 2   3 to 4       >4  
Pneumonia (episodes over lifetime) None   1   2   3   >3  
Parenchymal lung anomalies Absent           Bronchiectasis   Pneumatocele  
Retained primary teeth None 1 2   3       >3  
Scoliosis, maximum curvature <10°   10 to 14°   15 to 20°       >20°  
Fractures with minor trauma None       1 to 2       >2  
Highest eosinophil count (cells/microL)Δ <700     700 to 800     >800      
Characteristic face Absent   Mildly present     Present        
Midline anomaly◊ Absent         Present        
Newborn rash Absent       Present          
Eczema (worst stage) Absent Mild Moderate   Severe          
Upper respiratory infections per year 1 to 2 3 4 to 6   >6          
Candidiasis None Oral Fingernails   Systemic          
Other serious infections None       Severe          
Fatal infection Absent       Present          
Hyperextensibility Absent       Present          
Lymphoma Absent       Present          
Increased nasal width§ <1 SD 1 to 2 SD   >2 SD            
High palate Absent   Present              
Young-age correction >5 years     2 to 5 years   1 to 2 years   ≤1 year    
HIES: hyperimmunoglobulin E syndrome; IgE: immunoglobulin E; SD: standard deviation.
* The entry in the furthest right column is assigned the maximum points allowed for each finding.
¶ Normal <130 international units/mL.
Δ 700/microL = 1 SD, 800/microL = 2 SD above the mean value for normal individuals.
◊ For example, cleft palate, cleft tongue, hemivertebrae, other vertebral anomaly, etc.[1]
§ Compared with age- and sex-matched controls.[2]
References:
  1. Grimbacher B, Holland SM, Gallin JI, et al. Hyper IgE syndrome with recurrent infections: An autosomal dominant multisystem disorder. New Engl J Med 1999; 340:692.
  2. Farkas LG. Anthropometry of the Head and Face in Medicine, 2nd ed, Raven Press, New York, 1994.
Reproduced from: Grimbacher B, Schäffer AA, Holland SM, et al. Genetic linkage of hyper-IgE syndrome to chromosome 4. Am J Hum Genet 1999; 65:735. Table used with the permission of Elsevier Inc. All rights reserved.
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