Table 2.
BCG and other mycobacterial complications in recently described PIDD.
| PIDD | BCG vaccinateda | BCG reaction |
NTM | Pulmonary TB | Extrapulmonary TB |
Totalb | References | ||
|---|---|---|---|---|---|---|---|---|---|
| Localized | Disseminated | Localized | Disseminated | ||||||
| STAT1 GOF | 19/43 | 3 | 4 | 8 (2 pulmonary M. avium; 1 disseminated M. avium; 2 M. fortuitum lymphadenitis; 1 disseminated M. genavense; and 2 lung NTM infection) | 5 | 1 | 6 | 348 | (3, 18–22, 24–34, 36–39, 41–72) |
| STAT3 GOF | 4/7 | – | – | 1 (disseminated M. avium) | – | – | – | 31 | (78–82, 84–88) |
| PIK3CD | 10/40 | 3 | – | – | – | – | – | 158 | (40, 89, 90, 96, 97, 101, 103–120) |
| PIK3R1 | 18/49 | 2 | – | – | – | – | – | 64 | (94, 95, 98–100, 102, 113, 117, 121–124) |
| NFKB1 | 1/15 | – | – | 2 (M. avium complex) | – | – | – | 56 | (40, 82, 131–137) |
| NFKB2 DN and GOF | 0/11 | – | – | 1 (M. kansasii) | – | – | – | 29 | (40, 138–148) |
| CBM complex | |||||||||
| CARD11 AR LOF | 0/2 | – | – | – | – | – | – | 5 | (150, 153, 154, 157) |
| CARD11 GOF | 3/9 | – | – | – | – | – | – | 9 | (152, 155, 156, 158) |
| CARD11 DN/LOF | 0/4 | – | – | – | 1 | – | – | 12 | (159, 160) |
| MALT1 | 0/4 | – | – | – | – | – | – | 6 | (162–165) |
| CTLA4 | 4/14 | – | – | – | 2 | – | – | 74 | (82, 111, 166, 167, 169–181) |
| LRBA | 16/21 | – | – | – | – | – | – | 108 | (82, 174, 179, 180, 182–184, 186, 187, 190–210) |
| GATA2 | 3/357 | – | 1 | 54 (24 M. avium complex; 12 M. kansasii; 3 M. abscessus; 1 M. fortuitum; 1 M. scrofulaceum; 1 M. massiliense; 1 M. chelonae; 1 M. szulgai; 1 M. malmoense; 9 NTM) | – | – | 1 | 357 | (40, 211–214, 216, 217, 220–284) |
| CARMIL2 | 4/21 | – | – | – | – | – | 2 | 21 | (286–289) |
| PGM3 | 4/37 | – | – | – | – | – | – | 37 | (291, 292, 295–301) |
aNumerator/denominator based on paper’s review and personal communications with corresponding authors.
bTotal number of cases published.
AR, autosomal recessive; BCG, Bacille Calmette–Guerin; DN, dominant negative; GOF, gain-of-function; LOF, loss-of-function; NTM, nontuberculous mycobacteria; PIDD, primary immunodeficiency diseases; TB, tuberculosis; STAT1, signal transducer and activator of transcription 1; STAT3, signal transducer and activator of transcription 3; CARD, caspase activation and recruitment domain; MALT1, mucosa-associated lymphoid tissue lymphoma translocation gene 1; LRBA, lipopolysaccharide-responsive Beige-like anchor protein; PGM3, phosphoglucomutase 3; BCL10, B-cell leukemia/lymphoma 10; PIK3CD, phosphoinositide kinase 3 catalytic unit delta; PIK3R1, phosphoinositide kinase 3 regulatory subunit 1; NFKB, nuclear factor kappa-light-enhancer of activated B cells; CBM, CARD11, BCL10, MALT1 complex; CARMIL2, capping protein regulator and myosin 1 linker 2; TTC7A, tetratricopeptide repeat domain 7A.
BCL10 and TTC7A-deficient patients are not shown in this table as information on their BCG vaccination status could not be retrieved.