Table 5.

Molecular defects identified in a cohort of 140 patients with HIGM




Number of patients

Gene
Percentage*
Male
Female
Number of families
CD40L  70.0   98   0   77  
AID  2.9   3   1   4  
CD40  0   0   0   0  
NEMO  0.7   1   0   1  
ICOS  0   0   0   0  
ICOSL  0   0   0   0  
UNG2  0.7   1   0   1  
Btk  2.1   3   0   2  
SAP  0   0   0   0  
Unknown   23.6   24   9   30  
Total
 
100
 
130
 
10
 
115
 



Number of patients

Gene
Percentage*
Male
Female
Number of families
CD40L  70.0   98   0   77  
AID  2.9   3   1   4  
CD40  0   0   0   0  
NEMO  0.7   1   0   1  
ICOS  0   0   0   0  
ICOSL  0   0   0   0  
UNG2  0.7   1   0   1  
Btk  2.1   3   0   2  
SAP  0   0   0   0  
Unknown   23.6   24   9   30  
Total
 
100
 
130
 
10
 
115
 
*

Percentage of all patients.

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