59
C2 C2
C3 C3
C4 C4A, C4B
C5 C5
C6 C6
C7 C7
C8
C8 α C8A
C8 β C8B
C8 γ C8G
C9 C9
C1 inhibitor deficiency SERPING1
Factor B CFB
Factor D CFD
Factor H CFH
Factor H–related protein deficiency CFHR1-5
Factor I CFI
Properdin CFP
MBL deficiency MBL
MBL-associated protease 1 (MASP1) deficiency MASP1
MBL-associated serum protease 2 deficiency MASP2
Ficolin 3 deficiency FCN3
rombomodulin THBD
Membrane cofactor protein (CD46) deficiency CD46
Membrane attack complex inhibitor (CD59)
deficiency
CD59
COLEC11 deficiency COLEC11
Complement receptor 2 deficiency CD21
Complement receptor 3 deficiency ITGB2
Table 11. Classification of Primary Immunodeficiencies
a
(cont'd)
Defect or disease(s) Gene(s)
