Table 2.

Results of family investigations




Factor D protein, mg/L*

Factor D gene mutation

MBL protein, mg/L

MBL gene
Patient B   < 0.03   Homozygous   2.6   HYPA/HYPA  
Mother   0.44   Heterozygous   1.3   HYPA/HYPA  
Father   0.14   Heterozygous   1.4   HYPD/HYPA  
Sister
 
0.34
 
Heterozygous
 
2.6
 
HYPA/HYPA
 



Factor D protein, mg/L*

Factor D gene mutation

MBL protein, mg/L

MBL gene
Patient B   < 0.03   Homozygous   2.6   HYPA/HYPA  
Mother   0.44   Heterozygous   1.3   HYPA/HYPA  
Father   0.14   Heterozygous   1.4   HYPD/HYPA  
Sister
 
0.34
 
Heterozygous
 
2.6
 
HYPA/HYPA
 
*

Normal range, 1.0-2.0 mg/L.

Normal range, > 0.8 mg/L.

Normal, HYPA/HYPA.

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