51
AT ATM
AT-like disorder MRE11
NB NBS1
Bloom syndrome BLM
MCM4 deficiency MCM4
Immunodeficiency with centromeric instability and
facial anomalies (ICF syndrome)
ICF1 (DNA methyltransferase 3b) DNMT3B
ICF2 (zinc finger and BTB domain containing 24) ZBTB24
PMS2 deficiency PMS2
Radiosensitivity, immunodeficiency, dysmorphic
features and learning difficulties (RIDDLE) syndrome
RNF168
DGS del22q11, del10p13,
TBX1
CHARGE syndrome CHD7, SEMA3E
Trisomy 21 syndrome
CD4 lymphocytopenia
Uncoordinated 119 deficiency UNC119
Immuno-osseous dysplasias
CHH RMRP
Schimke syndrome SMARCAL1
CID with skeletal dysplasia PGM3
Comel-Netherton syndrome SPINK5
HIESs
Autosomal dominant (type 1, Job syndrome) STAT3
Autosomal recessive (type 2) DOCK8
HIES variant TYK2
HIES variant PGM3
Loeys-Dietz syndrome TGFBR1
SAM syndrome DSG1
Hepatic VODI SP110
Table 11. Classification of Primary Immunodeficiencies
a
(cont'd)
Defect or disease(s) Gene(s)
