Table II.
WES analysis of 31 IEI patients with severe/critical COVID-19
| Patient ID | Main potential genetic cause of IEI | Potential modifiers in antiviral immunity-related pathways |
|||||
|---|---|---|---|---|---|---|---|
| Lymphocyte development/epigenetic | DNA repair gene defect | IFN pathway genes | IL-1 activation pathway genes | NF-κB pathway genes | Other related genes∗ | ||
| P1 | ATM (hom)/; TLR7 (hem) | BCL11B (het) | IFNA4 (het)/STAT6 (het)/; IFIH1 (het)/RNASEH2C (het) | IL10RB (het)/; IL7R (het) | |||
| P2 | CASP10 (het) | SRP72 (het) | IFNAR2 (het) | ||||
| P3 | NLRP1 (hom) | KMT2D (het) | CARD14 (het) | C3 (het)/; IL11 (het) | |||
| P4 | CFH (het) | CLEC16A (het) | IRF5 (het) | IL11 (het)/; STX11 (het) | |||
| P5 | NFKB1 (het) | SAMD9 (het) | IFNA8 (het) | NFAT5 (het)/; C3 (het)/; IL17RD (het)/; UNC13D (het) | |||
| P6 | PIGA (hem) | IFNA8 (het) | TNFRSF11A (het) | IL2RA (het) | |||
| P7 | TBX1 (het) | MSH6 (het)/MCM4 (het)/MCM10 (het) | IL31RA (het) | ||||
| P8 | NOTCH1 (het) | APOL1 (het)/; IL17RC (het)/IL23R (het) | |||||
| P9 | TICAM1 (comp het) | ATM (het) | RNASEH2B (het) | IL18R1(het)/UNC13D (het) | |||
| P10 | BACH2 (het)/CASP10 (het) | IFNA21 (het)/IFNA4 (het) | NLRP1 (het)/NLRP2 (het)/; IL1RL1 (het) | CASP10 (het)/ | |||
| P11 | CFTR (comp het) | KMT2D (het) | AP1S3 (het) | IL10RA (het) | |||
| P12 | BACH2 (het) | DNASE2B (het) | MEFV (het) | IL8 (het) | |||
| P13 | NOTCH1 (het) | PIK3CD (het) | IL31RA (het) | ||||
| P14 | SH3KBP1 (hom) | BLK (het) | PSTPIP1 (het) | NOD2 (het) | |||
| P15 | TERT (het) | IRF2BPL (het) | NLRP2 (het) | IL17RB (het) | |||
| P16 | CFHR1 (hom) | VAV1 (het)/; IKZF2(het) | NCSTN (het) | C3 (het)/IL17RE (het) | |||
| P17 | Not found | PSEN1(het) | ATM (het) | NLRP1 (het) | IL17RD (het) | ||
| P18 | Not found | STAT4 (het) | IL12RB2 (het) | ||||
| P19 | IFNAR1 (hom) | KMT2D (het) | TYK2 (hom)/; PDGFRB (het) | NLRC4 (het) | NOD2 (het) | IL17C (het)/IL4R (het)/UNC13D (het) | |
| P20 | PIGA (hem) | TCF3 (het) | IL2RA (het) | ||||
| P21 | STXBP2 (het) | KMT2D (het) | ATM (het) | SRP72 (het)/; IL12RB1 (het)/IL17C (het)/IL27RA (het)/IL31RA (het)/UNC13D (het) | |||
| P22 | Not found | KMT2D (het) | ERBB2IP (het) | PSTPIP1 (het) | |||
| P23 | PIK3CD (het) | NOTCH1 (het) | MAP3K6 (het) | CARD14 (het) | IL34 (het)/IL7R (het) | ||
| P24 | DNMT3B (hom) | BCL11B (het) | DDX58 (het)/TREX1 (het) | IL1RL2 (het) | SAMD9 (het) | ||
| P25 | IKZF1 (het) | CLEC16A (het) | IRF2BPL (het) | TNFRSF11A (het) | APOL1 (het)/IL16 (het)/; IL24 (het) | ||
| P26 | CFH (het) | IFNA8 (het)/; TLR4 (het)/; IRF2BPL (het) | UNC13D (het) | ||||
| P27 | UNG (comp het) | KMT2A (het) | TNFRSF11A (het) | ||||
| P28 | DNMT3B (hom) | NLRP1 (comp het) | NLRP12 (comp het) | CFH (het)/ELANE (het)/; SEMA3E (het) | |||
| P29 | BTK (hem) | CHD7 (het) | STAT6 (het)/IFNLR1 (het)/IL28R (het) | NOD2 (het) | IL4R (het) | ||
| P30 | IL7R (hom) | KMT2D (het) | |||||
| P31 | IL37 (hom) | ERCC6L2 (het) | PEPD (het)/PRKCD (het)/MVK (het) | ||||
Comp het, Compound heterozygous; hem, hemizygous; het, heterozygous; hom, homozygous.
∗
Known IEI genes associated with autoinflammatory disease, disease of immune dysregulation, and complement deficiencies.