| Kindred | Patient | Mutation (predicted protein variant) | Origin | Sex | Follow-up | Age at onset of symptoms | Autoimmune manifestations | BCG status; clinical infectious phenotype (infections, microbiology, pathology results); treatment, prophylaxis | Reference |
|---|---|---|---|---|---|---|---|---|---|
| A | P1 | c.1840C>T/c.1840C>T (p.R614W/p.R614W) | Mexico, living in USA | M | Alive | 3 yr | Autoimmune hemolytic anemia, SLE ANA+, anti-RNP+, anti-smith+, anti-SSA+ | BCG-vaccine: no AE; recurrent pneumonia, EBV infection, recurrent otitis media; corticosteroids, rapamycin; prophylaxis: NR | Kuehn et al., 2013 |
| B | P2 | c.742G>A/c.742G>A (p.G248S/p.G248S) | Turkey | M | Alive | 1 yr | SLE ANA+ | BCG-vaccine: no AE; recurrent pneumonia, CMV infection, recurrent gastroenteritis; hydroxychloroquine; prophylaxis: IVIG, antibiotics | Kiykim et al., 2015 |
| C | P3 | c.1528G>A/c.1528G>A (p.G510S/p.G510S) | France | F | Alive | 10 yr | SLE ANA+, anti-dsDNA+ | BCG-vaccine: no AE; severe Legionella pneumonia, recurrent pneumonia, severe papillomatosis; corticosteroids, hydroxychloroquine; prophylaxis: NR | Belot et al., 2013 |
| P4 | c.1528G>A/c.1528G>A (p.G510S/p.G510S) | F | Dead | 3 yr | Autoimmune hemolytic anemia, SLE ANA+, anti-dsDNA+ | BCG-vaccine: no AE; died at age 13 yr from septic shock due to P. aeruginosa; corticosteroids, MMF, anti-CD20 (rituximab); prophylaxis: NR | |||
| P5 | c.1528G>A/c.1528G>A (p.G510S/p.G510S) | M | Alive | 6 yr | SLE ANA+, anti-dsDNA+ | BCG-vaccine: no AE; pleuritis and recurrent pneumonia; corticosteroids, MMF; prophylaxis: IVIG | |||
| D | P6 | c.1352+1G>A/c.1352+1G>A (?/?) | Turkey | M | Alive | 1 yr | SLE ANA+, anti-dsDNA+, anti-cardiolipin+ | BCG-vaccine: no AE; recurrent pneumonia, urinary tract infections, recurrent gastroenteritis, recurrent otitis media; corticosteroids, anti-CD20 (rituximab); prophylaxis: IVIG, antibiotics | Salzer et al., 2013 |
| E | P7 | c.1294G>T/c.1294G>T (p.G432W/p.G432W) | Pakistan, living in UK | F | Alive | 1 yr | Autoimmune hemolytic anemia, SLE ANA+, anti-dsDNA+ | BCG-vaccine: no AE; corticosteroids, anti-CD20 (rituximab), azathioprine; prophylaxis: IVIG | Lei et al., 2018; Nanthapisal et al., 2017 |
| P8 | c.1294G>T/c.1294G>T (p.G432W/p.G432W) | F | Alive | 1 yr | Autoimmune hemolytic anemia, SLE ANA+, anti-dsDNA+ | BCG-vaccine: no AE; cervical and inguinal lymphadenopathy; corticosteroids, anti-CD20 (rituximab), azathioprine; prophylaxis: IVIG | |||
| P9 | c.1294G>T/c.1294G>T (p.G432W/p.G432W) | M | Alive | 2 yr | SLE ANA+, anti-dsDNA+ | BCG-vaccine: no AE; corticosteroids, anti-CD20 (ofatumumab); prophylaxis: IVIG | |||
| F | P10 | c.788-2A>G/c.571C>T (?/p.Q191*) | UK | M | Alive | 9 mo | SLE ANA+ | BCG-vaccine: no AE; Listeria meningitis, recurrent otitis media, early-onset enterocolitis, systemic Candida infection, sepsis due to E. faecium, recurrent A. xyloxidans cervical lymphadenitis, SARS-CoV-2 infection; sirolimus, anti-CD20 (rituximab); prophylaxis: IVIG | Unpublished data; Meyts et al., 2021 |
| P11 | c.788-2A>G/c.571C>T (?/p.Q191*) | F | Alive | 6 mo | SLE ANA+ | BCG-vaccine: no AE; H. influenzae sepsis, recurrent gastroenteritis, early-onset enterocolitis; MMF, anti-CD20 (rituximab); prophylaxis: IVIG | |||
| G | P12 | c.1293_1294insA/ c.1293_1294insA (p.G432Rfs*15/p.G432Rfs*15) | Afghanistan, living in Iran | M | Alive | 1 yr | SLE ANA+, anti-dsDNA+ | BCG-vaccine: no AE; S. pneumoniae pneumonia, H. influenza otitis media, recurrent oral candidiasis, recurrent pneumonia, recurrent gastroenteritis; corticosteroids, NSAIDs, azathioprine; prophylaxis: cyclic rotation of sulfamethoxazole-trimethoprim/amoxicillin and azithromycin | Sharifinejad et al., 2020 |
| H | P13 | c.571+2dup/c.571+2dup (?/?) | Turkey | F | Alive | 1 yr | SLE ANA+, anti-dsDNA+ | BCG-vaccine: at 2 mo of age, BCG-osis; Salmonella bacteremia; S. aureus inguinal lymphadenitis, recurrent gingivitis; antimycobacterial treatment, ceftriaxone; corticosteroids; prophylaxis: amoxicillin, IVIG | This paper |
| I | P14 | c.1384C>T/c.1384C>T (p.Q462*/p.Q462*) | Turkey | M | Alive | 7 mo | Autoimmune hemolytic anemia, ANA+ | BCG-vaccine: BCG-itis; recurrent gastroenteritis; isoniazid, rifampicin; corticosteroids; prophylaxis: none at present | This paper |
| P15 | c.1384C>T/c.1384C>T (p.Q462*/p.Q462*) | M | Alive | 7 mo | Autoimmune hemolytic anemia, ANA+ | BCG vaccine: BCG-itis; recurrent gastroenteritis, shingles; isoniazid, rifampicin; corticosteroids; prophylaxis: IVIG | |||
| J | P16 | c.642del/c.642del (p.N214Kfs*26/p.N214Kfs*26) | Iran | F | Alive | 1 yr | No SLE, ANA−, anti-dsDNA− | BCG vaccine: BCG-itis; isoniazid, rifampicin, azithromycin; prophylaxis: none at present | This paper |
| P17 | c.642del/c.642del (p.N214Kfs*26/p.N214Kfs*26) | M | Alive | No SLE, ANA−, anti-dsDNA− | BCG vaccine: no AE; asymptomatic; prophylaxis: none at present |
| Kindred | Patient | Mutation (predicted protein variant) | Origin | Sex | Follow-up | Age at onset of symptoms | Autoimmune manifestations | BCG status; clinical infectious phenotype (infections, microbiology, pathology results); treatment, prophylaxis | Reference |
|---|---|---|---|---|---|---|---|---|---|
| A | P1 | c.1840C>T/c.1840C>T (p.R614W/p.R614W) | Mexico, living in USA | M | Alive | 3 yr | Autoimmune hemolytic anemia, SLE ANA+, anti-RNP+, anti-smith+, anti-SSA+ | BCG-vaccine: no AE; recurrent pneumonia, EBV infection, recurrent otitis media; corticosteroids, rapamycin; prophylaxis: NR | |
| B | P2 | c.742G>A/c.742G>A (p.G248S/p.G248S) | Turkey | M | Alive | 1 yr | SLE ANA+ | BCG-vaccine: no AE; recurrent pneumonia, CMV infection, recurrent gastroenteritis; hydroxychloroquine; prophylaxis: IVIG, antibiotics | |
| C | P3 | c.1528G>A/c.1528G>A (p.G510S/p.G510S) | France | F | Alive | 10 yr | SLE ANA+, anti-dsDNA+ | BCG-vaccine: no AE; severe | |
| P4 | c.1528G>A/c.1528G>A (p.G510S/p.G510S) | F | Dead | 3 yr | Autoimmune hemolytic anemia, SLE ANA+, anti-dsDNA+ | BCG-vaccine: no AE; died at age 13 yr from septic shock due to | |||
| P5 | c.1528G>A/c.1528G>A (p.G510S/p.G510S) | M | Alive | 6 yr | SLE ANA+, anti-dsDNA+ | BCG-vaccine: no AE; pleuritis and recurrent pneumonia; corticosteroids, MMF; prophylaxis: IVIG | |||
| D | P6 | c.1352+1G>A/c.1352+1G>A (?/?) | Turkey | M | Alive | 1 yr | SLE ANA+, anti-dsDNA+, anti-cardiolipin+ | BCG-vaccine: no AE; recurrent pneumonia, urinary tract infections, recurrent gastroenteritis, recurrent otitis media; corticosteroids, anti-CD20 (rituximab); prophylaxis: IVIG, antibiotics | |
| E | P7 | c.1294G>T/c.1294G>T (p.G432W/p.G432W) | Pakistan, living in UK | F | Alive | 1 yr | Autoimmune hemolytic anemia, SLE ANA+, anti-dsDNA+ | BCG-vaccine: no AE; corticosteroids, anti-CD20 (rituximab), azathioprine; prophylaxis: IVIG | |
| P8 | c.1294G>T/c.1294G>T (p.G432W/p.G432W) | F | Alive | 1 yr | Autoimmune hemolytic anemia, SLE ANA+, anti-dsDNA+ | BCG-vaccine: no AE; cervical and inguinal lymphadenopathy; corticosteroids, anti-CD20 (rituximab), azathioprine; prophylaxis: IVIG | |||
| P9 | c.1294G>T/c.1294G>T (p.G432W/p.G432W) | M | Alive | 2 yr | SLE ANA+, anti-dsDNA+ | BCG-vaccine: no AE; corticosteroids, anti-CD20 (ofatumumab); prophylaxis: IVIG | |||
| F | P10 | c.788-2A>G/c.571C>T (?/p.Q191*) | UK | M | Alive | 9 mo | SLE ANA+ | BCG-vaccine: no AE; | Unpublished data; |
| P11 | c.788-2A>G/c.571C>T (?/p.Q191*) | F | Alive | 6 mo | SLE ANA+ | BCG-vaccine: no AE; | |||
| G | P12 | c.1293_1294insA/ c.1293_1294insA (p.G432Rfs*15/p.G432Rfs*15) | Afghanistan, living in Iran | M | Alive | 1 yr | SLE ANA+, anti-dsDNA+ | BCG-vaccine: no AE; | |
| H | P13 | c.571+2dup/c.571+2dup (?/?) | Turkey | F | Alive | 1 yr | SLE ANA+, anti-dsDNA+ | BCG-vaccine: at 2 mo of age, BCG-osis; | This paper |
| I | P14 | c.1384C>T/c.1384C>T (p.Q462*/p.Q462*) | Turkey | M | Alive | 7 mo | Autoimmune hemolytic anemia, ANA+ | BCG-vaccine: BCG-itis; recurrent gastroenteritis; isoniazid, rifampicin; corticosteroids; prophylaxis: none at present | This paper |
| P15 | c.1384C>T/c.1384C>T (p.Q462*/p.Q462*) | M | Alive | 7 mo | Autoimmune hemolytic anemia, ANA+ | BCG vaccine: BCG-itis; recurrent gastroenteritis, shingles; isoniazid, rifampicin; corticosteroids; prophylaxis: IVIG | |||
| J | P16 | c.642del/c.642del (p.N214Kfs*26/p.N214Kfs*26) | Iran | F | Alive | 1 yr | No SLE, ANA−, anti-dsDNA− | BCG vaccine: BCG-itis; isoniazid, rifampicin, azithromycin; prophylaxis: none at present | This paper |
| P17 | c.642del/c.642del (p.N214Kfs*26/p.N214Kfs*26) | M | Alive | No SLE, ANA−, anti-dsDNA− | BCG vaccine: no AE; asymptomatic; prophylaxis: none at present |
Family code, patient number, and mutations are as in Fig. 1. Predicted protein variations are indicated in parenthesis. ? indicates unknown prediction of splice site variants. Patient origin, sex, current vital status, age at onset of symptoms, and clinical phenotypes are shown. AE, adverse effect; F, female; M, male; NR, not reported; NSAID, nonsteroidal anti-inflammatory drug.
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