Table 1 Immunodeficiencies affecting cellular and humoral immunity |
DCLRE1C (ARTEMIS)
|
DNA Cross-Link Repair 1C |
ICOS
|
Inducible T Cell Costimulator |
IKBKB
|
Inhibitor Of Nuclear Factor Kappa B Kinase Subunit Beta |
IKZF1
|
IKAROS Family Zinc Finger 1 |
STK4 (MST1)
|
Serine/Threonine Kinase 4 |
Table 2 Combined immunodeficiencies with associated or syndromic features |
IKBKB
|
Inhibitor Of Nuclear Factor Kappa B Kinase Subunit Beta |
SPINK5
|
Serine Peptidase Inhibitor Kazal Type 5 |
STAT3
|
Signal Transducer and Activator Of Transcription 3 |
WAS
|
WASP Actin Nucleation Promoting Factor |
Table 3 Predominantly Antibody Deficiencies |
BTK
|
Bruton Tyrosine Kinase |
IKZF1
|
IKAROS Family Zinc Finger 1 |
NFκB1
|
Nuclear Factor Kappa B Subunit 1 |
NFκB2
|
Nuclear Factor Kappa B Subunit 2 |
PIK3CD
|
Phosphoinositide 3 Kinase Catalytic Subunit Delta |
PIK3R1
|
Phosphoinositide 3 Kinase Regulatory Subunit 1 |
TNFRSF13B
|
Tumor Necrosis Factor Receptor Superfamily Member 13B |
TNFRSF13C
|
TNF Receptor Superfamily Member 13C |
UNG
|
Uracil DNA Glycosylase |
Table 4 Diseases of Immune Dysregulation |
AIRE
|
Autoimmune Regulator |
BACH2
|
BTB Domain and CNC Homolog 2 |
CARMIL2
|
Capping Protein Regulator And Myosin 1 Linker 2 |
CD70
|
CD70 Molecule |
CTLA4
|
Cytotoxic T-Lymphocyte Associated Protein 4 |
FAS
|
Fas Cell Surface Death Receptor |
FOXP3
|
Forkhead Box P3 |
LRBA
|
LPS Responsive Beige-Like Anchor Protein |
RIPK1
|
Receptor Interacting Serine/Threonine Kinase 1 |
SH2D1A
|
SH2 Domain Containing 1A |
SOCS1
|
Suppressor of Cytokine Signalling 1 |
STAT3
|
Signal Transducer and Activator Of Transcription 3 |
UNC13D
|
Unc-13 Homolog D |
XIAP
|
X-Linked Inhibitor Of Apoptosis |
Table 5 Congenital defects of phagocyte number or function |
CYBC1
|
Cytochrome B-245 Chaperone 1 |
JAGN1
|
Jagunal Homolog 1 |
WAS
|
WASP Actin Nucleation Promoting Factor |
Table 6 Defects in intrinsic and innate immunity |
STAT1
|
Signal Transducer and Activator Of Transcription 1 |
Table 7 Autoinflammatory Disorders |
ADA2
|
Adenosine Deaminase 2 |
NLRP3
|
NLR Family Pyrin Domain Containing 3 |
PLCG2
|
Phospholipase C Gamma 2 |
SYK
|
Spleen Associated Tyrosine Kinase |
TNFAIP3
|
TNF Alpha Induced Protein 3 |
TNFRSF1A
|
TNF Receptor Superfamily Member 1A |
No IUIS Main category table
|
FLG
|
Filaggrin |