53
Inducible costimulator ICOS
CD19 CD19
CD21 CD21
CD20 CD20
Target of antiproliferative antibody 1 (TAPA-1, CD81) CD81
TACI TNFRSF13B
B-cell activating factor receptor TNFRSF13C
Phosphoinositol 3' kinase catalytic subunit mutation PIK3CD
Phosphoinositol 3' kinase regulatory subunit 1 defect PIK3R1
LPS-responsive beige-like anchor protein deficiency LRBA
TWEAK deficiency TWEAK
NF-κB2 deficiency NFKB2
Protein kinase Cd deficiency PRKCD
Kabuki syndrome KMT2D
SIGAD
IGGSD
SAD
IgA deficiency with IGGSD
THI
Hypogammaglobulinemia, unspecified
Class-switch defects
AID deficiency AICDA
Uracil-DNA glycosylase (UNG) deficiency UNG
Immunoglobulin gene mutations/deletions
Heavy chain locus deletions IGH
κ-Chain deficiency IGLK
Diseases of immune dysregulation
FHL syndromes with hypopigmentation
CHS LYST
GS2 RAB27A
HPS type 2 AP3B1
Table 11. Classification of Primary Immunodeficiencies
a
(cont'd)
Defect or disease(s) Gene(s)
