Clinical data summary
| Patient . | Sex . | Genotype . | Origin . | Age referral . | Age onset . | Reference . | Major manifestation . | Pathogens identified . | Noninfectious triggers . |
|---|---|---|---|---|---|---|---|---|---|
| A.II.4 | Female | WT/p.A240V | Europe | 31 years | 4 years | (21) | Necrotizing cellulitis; pathergy-like inflammation; pneumonia; lung abscesses | None identified | Minor trauma |
| B.III.8 | Male | WT/p.E314X | Middle East | 6 years | 1.5 years | | Necrotizing cellulitis; skin abscesses; necrotizing panniculitis; pneumonia | P. aeruginosa; Enterobacter spp. | Vaccination |
| C.II.3 | Male | WT/p.K247RfsX25 | South America | 16 years | 0.5 years | | Necrotizing cellulitis; skin abscesses; pyoderma gangrenosum; pneumonia | P. aeruginosa; S. aureus; C. perfringens | Vaccination; surgery |
| D.II.3 | Female | WT/p.S351VfsX55 | Europe | 28 years | 28 years | | Necrotizing cellulitis; skin abscesses | None identified | Surgery |
| E.II.8 | Female | WT/p.W148X | Europe | 41 years | 15 years | (22) | Cellulitis; skin abscesses; chorioamnionitis; pyelonephritis | Klebsiella spp.; Pseudomonas spp.; C. perfringens; E. coli | Minor trauma |
| F.II.3 | Male | WT/c.788G>A (predicted p.R263Q) | North America | 38 years | 2 mo | | Soft tissue abscesses; pyoderma gangrenosum; osteomyelitis; inflammatory bowel disease; pneumonia | S. epidermidis | Minor trauma; vaccination; surgery |
| Patient . | Sex . | Genotype . | Origin . | Age referral . | Age onset . | Reference . | Major manifestation . | Pathogens identified . | Noninfectious triggers . |
|---|---|---|---|---|---|---|---|---|---|
| A.II.4 | Female | WT/p.A240V | Europe | 31 years | 4 years | (21) | Necrotizing cellulitis; pathergy-like inflammation; pneumonia; lung abscesses | None identified | Minor trauma |
| B.III.8 | Male | WT/p.E314X | Middle East | 6 years | 1.5 years | | Necrotizing cellulitis; skin abscesses; necrotizing panniculitis; pneumonia | P. aeruginosa; Enterobacter spp. | Vaccination |
| C.II.3 | Male | WT/p.K247RfsX25 | South America | 16 years | 0.5 years | | Necrotizing cellulitis; skin abscesses; pyoderma gangrenosum; pneumonia | P. aeruginosa; S. aureus; C. perfringens | Vaccination; surgery |
| D.II.3 | Female | WT/p.S351VfsX55 | Europe | 28 years | 28 years | | Necrotizing cellulitis; skin abscesses | None identified | Surgery |
| E.II.8 | Female | WT/p.W148X | Europe | 41 years | 15 years | (22) | Cellulitis; skin abscesses; chorioamnionitis; pyelonephritis | Klebsiella spp.; Pseudomonas spp.; C. perfringens; E. coli | Minor trauma |
| F.II.3 | Male | WT/c.788G>A (predicted p.R263Q) | North America | 38 years | 2 mo | | Soft tissue abscesses; pyoderma gangrenosum; osteomyelitis; inflammatory bowel disease; pneumonia | S. epidermidis | Minor trauma; vaccination; surgery |
Patient characteristics and disease manifestations of the patients reported. WT, wild-type.