Table 5
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 |