Clinical and immunological phenotype of the 29 NEMO-deficient patients before HSCT
| Patient . | Pyogenic bacterial infection . | Fungal infection . | Mycobacterial infection . | Viral infection . | B cells . | T cells LPT to PHA . | NK cells cytotoxic activity . | ||
|---|---|---|---|---|---|---|---|---|---|
| IgG/A/M levels . | Posttetanic vaccine serology . | CD19+ CD27+ B-cell count . | |||||||
| 1 | Recurrent | No | M fortuitum | No | Low | Negative | NR | Normal | NR |
| 2 | No | No | No | No | Low | NR | NR | Normal | NR |
| 3 | Recurrent | P jirovecii | No | CMV | Low | NR | NR | NR | NR |
| 4 | Recurrent | No | M avium | HSV | Normal | NR | NR | Low | NR |
| 5 | Recurrent | No | No | CMV, MCV | Low IgG/M, hyper IgA | Normal | NR | Normal | Low |
| 6 | Recurrent | P jirovecii, Candida sp | M avium | CMV | Hyper IgM | NR | NR | Normal | Low |
| 7 | Recurrent | No | No | No | Low | NR | NR | Normal | Low |
| 8 | Recurrent | P jirovecii, C albicans | M kansasii | ADV | Low IgG | Normal | NR | Normal | Low |
| 9 | Recurrent | No | M avium | VZV (vaccine strain) | Low IgG, hyper IgM | Negative | Low | Normal | NR |
| 10 | Recurrent | No | M bovis | EBV | Low IgG | NR | NR | Normal | Normal |
| 11 | Recurrent | Metarhizium anisopliae | No | No | Low IgG, hyper IgM | NR | Low | Low | Low |
| 12 | Recurrent | No | M fortuitum | No | Low | Negative | Low | Normal | Low |
| 13 | Recurrent | No | M avium | ADV | Hyper IgA | NR | Low | Normal | Low |
| 14 | Recurrent | No | Yes (not specified) | No | Low | NR | NR | NR | NR |
| 15 | Recurrent | C parapsilosis | No | CMV | Low IgG, hyper IgA | Normal | NR | Normal | NR |
| 16 | NR | P jirovecii | No | CMV, rotavirus | Low IgA | Normal | NR | Normal | Low |
| 17 | Recurrent | Aspergillus niger | M avium, M bovis | No | NR | Negative | NR | Normal | NR |
| 18 | Recurrent | No | M avium | HHV6 | NR | NR | NR | NR | NR |
| 19 | Recurrent | C parapsilosis | M bovis | no | Low IgG, hyper IgM | Negative | NR | NR | NR |
| 20 | NR | NR | NR | NR | NR | NR | NR | NR | NR |
| 21 | Recurrent | No | No | EBV | Low | Normal | Low | Normal | Low |
| 22 | Recurrent | No | M avium | No | NR | Negative | Low | NR | NR |
| 23 | Recurrent | P jirovecii | No | EBV, VZV | NR | NR | NR | NR | NR |
| 24 | Recurrent | P jirovecii | M avium | Sapovirus, EBV, HHV6 | Low IgG, hyper IgM | NR | NR | Normal | NR |
| 25 | Recurrent | No | No | No | Low IgG, hyper IgM | NR | NR | Normal | Low |
| 26 | One episode of sepsis | No | M szulgai | No | Low | NR | NR | Low | NR |
| 27 | Recurrent | C glabrata | No | No | Low | NR | NR | Normal | Low |
| 28 | Recurrent | C albicans | M avium | EBV, HSV | Normal | NR | NR | Normal | NR |
| 29 | Cutaneous abscess | No | No | CMV | Low IgG | Negative | Low | Normal | NR |
| Patient . | Pyogenic bacterial infection . | Fungal infection . | Mycobacterial infection . | Viral infection . | B cells . | T cells LPT to PHA . | NK cells cytotoxic activity . | ||
|---|---|---|---|---|---|---|---|---|---|
| IgG/A/M levels . | Posttetanic vaccine serology . | CD19+ CD27+ B-cell count . | |||||||
| 1 | Recurrent | No | M fortuitum | No | Low | Negative | NR | Normal | NR |
| 2 | No | No | No | No | Low | NR | NR | Normal | NR |
| 3 | Recurrent | P jirovecii | No | CMV | Low | NR | NR | NR | NR |
| 4 | Recurrent | No | M avium | HSV | Normal | NR | NR | Low | NR |
| 5 | Recurrent | No | No | CMV, MCV | Low IgG/M, hyper IgA | Normal | NR | Normal | Low |
| 6 | Recurrent | P jirovecii, Candida sp | M avium | CMV | Hyper IgM | NR | NR | Normal | Low |
| 7 | Recurrent | No | No | No | Low | NR | NR | Normal | Low |
| 8 | Recurrent | P jirovecii, C albicans | M kansasii | ADV | Low IgG | Normal | NR | Normal | Low |
| 9 | Recurrent | No | M avium | VZV (vaccine strain) | Low IgG, hyper IgM | Negative | Low | Normal | NR |
| 10 | Recurrent | No | M bovis | EBV | Low IgG | NR | NR | Normal | Normal |
| 11 | Recurrent | Metarhizium anisopliae | No | No | Low IgG, hyper IgM | NR | Low | Low | Low |
| 12 | Recurrent | No | M fortuitum | No | Low | Negative | Low | Normal | Low |
| 13 | Recurrent | No | M avium | ADV | Hyper IgA | NR | Low | Normal | Low |
| 14 | Recurrent | No | Yes (not specified) | No | Low | NR | NR | NR | NR |
| 15 | Recurrent | C parapsilosis | No | CMV | Low IgG, hyper IgA | Normal | NR | Normal | NR |
| 16 | NR | P jirovecii | No | CMV, rotavirus | Low IgA | Normal | NR | Normal | Low |
| 17 | Recurrent | Aspergillus niger | M avium, M bovis | No | NR | Negative | NR | Normal | NR |
| 18 | Recurrent | No | M avium | HHV6 | NR | NR | NR | NR | NR |
| 19 | Recurrent | C parapsilosis | M bovis | no | Low IgG, hyper IgM | Negative | NR | NR | NR |
| 20 | NR | NR | NR | NR | NR | NR | NR | NR | NR |
| 21 | Recurrent | No | No | EBV | Low | Normal | Low | Normal | Low |
| 22 | Recurrent | No | M avium | No | NR | Negative | Low | NR | NR |
| 23 | Recurrent | P jirovecii | No | EBV, VZV | NR | NR | NR | NR | NR |
| 24 | Recurrent | P jirovecii | M avium | Sapovirus, EBV, HHV6 | Low IgG, hyper IgM | NR | NR | Normal | NR |
| 25 | Recurrent | No | No | No | Low IgG, hyper IgM | NR | NR | Normal | Low |
| 26 | One episode of sepsis | No | M szulgai | No | Low | NR | NR | Low | NR |
| 27 | Recurrent | C glabrata | No | No | Low | NR | NR | Normal | Low |
| 28 | Recurrent | C albicans | M avium | EBV, HSV | Normal | NR | NR | Normal | NR |
| 29 | Cutaneous abscess | No | No | CMV | Low IgG | Negative | Low | Normal | NR |
ADV, adenovirus; CMV, cytomegalovirus; EBV, Epstein-Barr virus; HHV6, human herpesvirus 6; HSV, herpes simplex virus; LPT, lymphocyte proliferation test; MCV, Molluscum contagiosum virus; NR, not reported; P jirovecii, Pneumocystis jirovecii; VZV, varicella zoster virus.