Characteristics of IRAK-4– and MyD88-deficient patients
| Age (y) . | Gender . | Mutation . | Invasive infection history . | IgG (mg/dL) . | IgA (mg/dL) . | IgM (mg/dL) . | IgE (kU/L) . | Tetanus (IU/mL) . | S. pneumoniae (μg/mL) . | Isohemagglutinin . | IgM+ IgD+ CD27+ (% of B cells) . |
|---|---|---|---|---|---|---|---|---|---|---|---|
| IRAK-4−/− | |||||||||||
| 1 | F | L360X/L360X | Bacterial meningitis (twin with P. aeruginosa) | 680 | 171 | 116 | ND | ND | ND | ND | ND |
| 3 | F | M1V/1188+520A>G | P. aeruginosa | 1690 | 109 | 98 | 257 | 1.15 | 2.04 | ND | 0.8 |
| 3 | F | Y430X/1126-1G>T | S. pneumoniae, S. agalactiae, S. sonnei | 1120 | 119 | 159 | 6 | 0.58 | 8.11 | ND | ND |
| 9 | M | 1189-1G > T/1188+520A>G | S. pneumoniae | 1360 | 242 | 52 | 187 | 0.59 | <0.3 | 1/2 | 2.4 |
| 12 | M | Q293X/Q293X | S. pneumoniae | 1390 | 165 | 89 | NA | >0.1 | 2.0 | 1/64, 1/32 | 6 |
| 17 | M | Q293X/large de novo del | S. pneumoniae, S. aureus | 1440 | 88 | 64 | 11 | 0.47 | <0.3 | ND | 1.4 |
| 18 | M | R12C/831+5G>T | S. aureus, P. aeruginosa | 1280 | 102 | 138 | 180 | ND | ND | ND | 3.7 |
| 30 | F | Q293X/Q293X | S. pneumoniae, S. sonnei | 1670 | 110 | 190 | 400 | 0.06 | >0.3 | 1/2 | ND |
| MyD88−/− | |||||||||||
| 1 | F | E65del/E65del | S. pneumoniae, S. aureus, H. influenzae, M. catarrhalis | 379* | 22* | 32* | ND | ND | ND | ND | ND |
| 1 | M | E65del/E65del | P. aeruginosa | 620 | 52 | 93 | ND | ND | 0.9 | ND | ND |
| 11 | F | R209C/R209C | S. pneumoniae, Salmonella spp | 1250 | 136 | 69 | 10.4 | NA | 3.85 | 1/16 | 9 |
| Normal reference values | |||||||||||
| 1-3 y | 335-896 | 27-122 | 58-153 | <40 | >0.1 | >0.3 | >1/16 | 5-12 | |||
| 3-7 y | 549-1154 | 41-157 | 54-155 | <60 | >0.1 | >0.3 | >1/16 | 5-12 | |||
| >7 y | 655-1278 | 70-344 | 50-209 | <150 | >0.1 | >0.3 | >1/16 | 5-12 | |||
| Age (y) . | Gender . | Mutation . | Invasive infection history . | IgG (mg/dL) . | IgA (mg/dL) . | IgM (mg/dL) . | IgE (kU/L) . | Tetanus (IU/mL) . | S. pneumoniae (μg/mL) . | Isohemagglutinin . | IgM+ IgD+ CD27+ (% of B cells) . |
|---|---|---|---|---|---|---|---|---|---|---|---|
| IRAK-4−/− | |||||||||||
| 1 | F | L360X/L360X | Bacterial meningitis (twin with P. aeruginosa) | 680 | 171 | 116 | ND | ND | ND | ND | ND |
| 3 | F | M1V/1188+520A>G | P. aeruginosa | 1690 | 109 | 98 | 257 | 1.15 | 2.04 | ND | 0.8 |
| 3 | F | Y430X/1126-1G>T | S. pneumoniae, S. agalactiae, S. sonnei | 1120 | 119 | 159 | 6 | 0.58 | 8.11 | ND | ND |
| 9 | M | 1189-1G > T/1188+520A>G | S. pneumoniae | 1360 | 242 | 52 | 187 | 0.59 | <0.3 | 1/2 | 2.4 |
| 12 | M | Q293X/Q293X | S. pneumoniae | 1390 | 165 | 89 | NA | >0.1 | 2.0 | 1/64, 1/32 | 6 |
| 17 | M | Q293X/large de novo del | S. pneumoniae, S. aureus | 1440 | 88 | 64 | 11 | 0.47 | <0.3 | ND | 1.4 |
| 18 | M | R12C/831+5G>T | S. aureus, P. aeruginosa | 1280 | 102 | 138 | 180 | ND | ND | ND | 3.7 |
| 30 | F | Q293X/Q293X | S. pneumoniae, S. sonnei | 1670 | 110 | 190 | 400 | 0.06 | >0.3 | 1/2 | ND |
| MyD88−/− | |||||||||||
| 1 | F | E65del/E65del | S. pneumoniae, S. aureus, H. influenzae, M. catarrhalis | 379* | 22* | 32* | ND | ND | ND | ND | ND |
| 1 | M | E65del/E65del | P. aeruginosa | 620 | 52 | 93 | ND | ND | 0.9 | ND | ND |
| 11 | F | R209C/R209C | S. pneumoniae, Salmonella spp | 1250 | 136 | 69 | 10.4 | NA | 3.85 | 1/16 | 9 |
| Normal reference values | |||||||||||
| 1-3 y | 335-896 | 27-122 | 58-153 | <40 | >0.1 | >0.3 | >1/16 | 5-12 | |||
| 3-7 y | 549-1154 | 41-157 | 54-155 | <60 | >0.1 | >0.3 | >1/16 | 5-12 | |||
| >7 y | 655-1278 | 70-344 | 50-209 | <150 | >0.1 | >0.3 | >1/16 | 5-12 | |||
Reference values as published.3
M. catarrhalis, Moraxella catarrhalis; NA, not available; ND, not determined; P. aeruginosa, Pseudomonas aeruginosa; S. agalactiae, Streptococcus agalactiae; S. sonnei, Shigella sonnei.
Patient <6 mo of age when laboratory values were drawn.