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. 2023 Apr 21;43(6):1289–1301. doi: 10.1007/s10875-023-01472-0

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