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.