Table I.
Genotypes, origin, and clinical phenotypes of IRAK-4–deficient patients
| Kindred | Patient | Mutation | Origin | Follow-up | Age | Pathogens causing severe Gram-positive infections |
Pathogens causing severe Gram-negative infections |
References |
|---|---|---|---|---|---|---|---|---|
| A | P1 (II-4) | 821delT | KSA | deceased | 7 yr | Sp, Sa | – | (1, 13) |
| B | P2 (II-2) | Q293X/ BAC210N13del | Portugal | alive | 14 yr | Sp, Sa | – | (1, 10, 13) |
| C | P3 (II-1) | Q293X | USA | alive | 11 yr | Sp, Sa | Ec | (1, 3, 33) |
| D | P4 (II-1) | Q293X/ 620-621delAC | USA | alive | 24 yr | Sp, Cs | Nm | (2, 4, 35) |
| E | P5 (II-1) | ND | Turkey | deceased | 16 mo | Sp, Spa | – | (34) |
| E | P6 (II-4) | 573delA | Turkey | deceased | 2 mo | Sp | – | (34) |
| F | P7 (II-2) | Q293X | UK | alive | 32 yr | Sp | Ss | (6, 10, 13) |
| G | P8 (II-1) | 1188+520A>G/ 1189-1G>T | Hungary | alive | 9 yr | Sp | – | (10, 12, 13) |
| H | P9 (II-1) | Q293X | Canada | deceased | 6 yr | Sp | Pa | (5, 9, 13) |
| H | P10 (II-4) | Q293X | Canada | alive | 7 yr | Sp | – | (5, 9, 13) |
| I | P11 (III-1) | E402X | Spain | deceased | 2 yr | Sa | Pa | (8, 13) |
| I | P12 (III-4) | E402X | Spain | deceased | 8 mo | Sp | Pa | (8, 13) |
| I | P13 (IV-1) | E402X | Spain | alive | 9 yr | Sp | – | (8, 10, 13) |
| J | P14 (II-2) | ND | Israel | deceased | 3 mo | Sm | – | (13) |
| J | P15 (II-3) | 1-1096_40+23del | Israel | alive | 9 yr | Sp | – | (10, 13) |
| K | P16 (II-1) | ND | Canada | deceased | 5 mo | Sa | – | (13, 36) |
| K | P17 (II-2) | Q293X | Canada | alive | 27 yr | Sp | Pa | (13, 36) |
| K | P18 (II-3) | Q293X | Canada | alive | 27 yr | Sp | – | (13, 36) |
| L | P19 (II-1) | 167_172insA | Japan | deceased | 2 yr | Sp | – | (7) |
| L | P20 (II-2) | 167_172insA | Japan | alive | 24 mo | – | – | (7) |
| M | P21 (II-2) | ND | USA | deceased | 4 mo | bacterial meningitis | – | this study |
| M | P22 (II-3) | Q293X/ 620-621delAC | USA | alive | 10 yr | Sp, Sa | – | this study |
| N | P23 (II-1) | Y48X/ 631delG | Canada | alive | 2 yr | Sa | – | this study |
| O | P24 (II-1) | 1240insA/ 942-1481_1125+547del | Canada | alive | 16 yr | Sp, Sa | – | this study |
| P | P25 (II-1) | Q293X | Australia | deceased | 4 mo | Sp | – | this study |
| P | P25 (II-5) | Q293X | Australia | deceased | 6 mo | Sp, Sa | – | this study |
| Q | P27 (II-2) | Q293X | USA | alive | 11 yr | Sp | – | this study |
| R | P28 (II-1) | Q293X | USA | alive | 6 yr | Sp | – | (11) |
Cs, Clostridium septicum; Ec, E. coli; KSA, Kingdom of Saudi Arabia; Nm, N. meningitidis; Pa, P. aeruginosa; Sa, S. aureus; Sm, S. milleri; Sp, S. pneumoniae; Spa, S. parasanguis; Ss, S. sonnei.