56
Classification of PPID
X-linked due to mutation of gp91
phox
cytochrome
b
558
β chain)
CYBB
Autosomal recessive
p22
phox
(cytochrome b
558
α)
CYBA
p47
phox
NCF1
p67
phox
NCF2
p40
phox
NCF4
MSMD
IL-12/23 receptor β1 deficiency IL12RB1
IL-12 p40 deficiency IL12B
IFN-γ receptor 1 deficiency IFNGR1
IFN-γ receptor 2 deficiency IFNGR2
STAT1 loss of function STAT1
Interferon regulatory factor 8 deficiency IRF8
Macrophage gp91
phox
deficiency CYBB
ISG15 ISG15
PAP CSF2RA, CSF2RB
Defects of innate immunity
GATA-2 deficiency (MonoMAC syndrome) GATA2
Anhidrotic ectodermal dysplasia with
immunodeficiency (EDA-ID)
X-linked, nuclear factor-κB (NEMO) deficiency IKBKG
Inhibitor of κB α gain of function (EDA-ID, AD) IKBA
TIR signaling pathways
IL-4 receptor–associated kinase 4 deficiency IRAK4
MyD88 deficiency MYD88
RBCK1 (HOIL1) deficiency RBCK1
Type I interferonopathies
Aicardi-Goutières syndrome 1 (AGS1), TREX1
deficiency
TREX1
Table 11. Classification of Primary Immunodeficiencies
a
(cont'd)
Defect or disease(s) Gene(s)
