55
Congenital defects of phagocyte numbers, function, or both
Defects of neutrophil differentiation
SCNs
SCN1 (also cyclic neutropenia), neutrophil elastase
defect
ELANE
SCN2, growth factor–independent 1 transcription
repressor defect
SCN3, HCLS1-associated protein X-1 HAX1
defect (Kostmann syndrome)
GFI1
SCN4, glucose 6 phosphatase, catalytic, 3 defect G6PC3
SCN5 VPS45
X-linked neutropenia/myelodysplasia WAS
Glycogen storage disease type 1b SLC37A4
Late endosomal/lysosomal adaptor, mitogen-activated
protein kinase and MTOR activator 2P14 deficiency
LAMTOR2
Tafazzin defect (Barth syndrome) TAZ
Cohen syndrome vacuolar protein sorting 13 homolog B VPS13B
Poikiloderma with neutropenia (Clericuzio syndrome) C16orf57
Defects of motility
LAD
LAD-I, CD18 (integrin β2) defect ITGB2
LAD-II, GDP-fucose transporter 1 defect FUCT1
LAD-III, fermitin family member 3 FERMT3
Rac-2 defect RAC2
β-Actin defect ACTB
Localized juvenile periodontitis (formyl peptide
receptor defect)
FPR1
Papillon-Lefevre syndrome (cathepsin C defect) CTSC
SGD (CCAAT/enhancer binding protein
[C/EBP], γ defect)
CEBPG
Shwachman-Diamond syndrome SBDS
Defects of the respiratory burst
CGD
Table 11. Classification of Primary Immunodeficiencies
a
(cont'd)
Defect or disease(s) Gene(s)
