52
Classification of PPID
DKC
X-linked DKC (Hoyeraal-Hreidarsson syndrome) DKC1
Autosomal recessive DKC NHP2, NOP10, RTEL1
Autosomal dominant DKC TERC, TERT, TINF2
Defects of vitamin B12 and folate metabolism
Transcobalamin II deficiency TCN2
Hereditary folate malabsorption SLC46A1
MTHFD1 deficiency MTHFD1
IKAROS deficiency IKZF1
Facial dysmorphism, immunodeficiency, livedo, and
short stature (FILS) syndrome
POLE1
Immunodeficiency with MIA TTC7A
Hoffman syndrome
Sideroblastic anemia with immunodeficiency, fevers,
and developmental delay (SIFD)
TRNT1
Predominantly antibody deficiencies
Agammaglobulinemia
X-linked (Bruton) agammaglobulinemia BTK
μ Heavy chain deficiency IGHM
Ig-α deficiency CD79A
Ig-β deficiency CD79B
Surrogate light chain (λ 5) deficiency CD179B
B-cell linker protein (BLNK) deficiency BLNK
Leucine-rich repeat containing 8 deficiency LRRC8
Phosphoinositide 3-kinase kinase deficiency PIK3R1
E47 transcription factor deficiency TCF3
Myelodysplasia with hypogammaglobulinemia Monosomy 7, Trisomy 8
ymoma with immunodeficiency
(Good syndrome)
CVID
CVID-like disorders
Table 11. Classification of Primary Immunodeficiencies
a
(cont'd)
Defect or disease(s) Gene(s)
