TABLE 1.
Genetic and Clinical Features of Patients With IL-12Rβ1 Deficiency
| Patient | Kindred | Code | Country of Origin* | Mutation | Age/Sex (yr) | Follow-Up Outcome | BCG† | EM‡ | Mtb§ | Salmonella¶ | Candida** | Other Diseases†† | Ref. |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| 1 | 1 | II.2 | Morocco | K305X | 29.3/F | Alive | nk | - | - | Stm | na | na | 9,11,44 |
| 2 | 2 | II.1 | Morocco | R213W | 28.0/F | Alive | R | - | Mtb | - | na | na | 3,11 |
| 3 | 2 | II.3 | Morocco | R213W | 16.6/M | Alive | nk | - | - | Sen | na | na | 3,11 |
| 4 | 3 | II.3 | Cameroon | Y367C | 8.2/M | Alive | D | - | - | Sd, Sh | - | - | 11 |
| 5 | 4 | II.1 | Cyprus | 1623_1624delinsTT | 39.0/M | Alive | R | Ma, Mt, Mg | - | - | - | 9,11,33,37 | |
| 6 | 4 | II.2 | Cyprus | NA | 7.5/M | Deceased | R | Ma | - | - | Ca | - | 9,11,33,37 |
| 7 | 4 | II.3 | Cyprus | 1623_1624delinsTT | 27.1/F | Alive | R | - | - | S. spp | - | - | 9,11,33,37 |
| 8 | 5 | II.3 | Turkey (Kurds) | 783+1G>A | 21.8/F | Alive | D | - | - | - | - | - | 9,11,32 |
| 9 | 5 | II.4 | Turkey (Kurds) | 783+1G>A | 17.4/M | Alive | nv | - | - | - | - | - | 9,11,32 |
| 10 | 6 | II.2 | Turkey (Kurds) | 783+1G>A | 20.3/F | Alive | D | - | - | Se | - | - | 11 |
| 11 | 6 | II.3 | Turkey (Kurds) | 783+1G>A | 15.0/M | Alive | D | - | - | - | - | - | 11 |
| 12 | 7 | II.5 | Turkey | R173P | 17.4/M | Deceased | R | Ma, Mfc | Mtb | - | Ca | - | 11,14 |
| 13 | 8 | II.2 | Turkey | R173P | 14.8/F | Alive | L | Mc | - | Se | - | Leukocytoclastic vasculitis | 11,25 |
| 14 | 9 | II.3 | Turkey | 557_563delins8 | 18.0/F | Alive | L | - | - | Se, Stm, St | Ca | Vasculitis | 11 |
| 15 | 10 | II.2 | Israel (Bedouin Arab) | 700+362_1619-944del | 9.9/M | Alive | nv | - | - | SD | Ca | - | 11,18,19,44 |
| 16 | 11 | II.2 | KSA | 1190-1G>A | 8.4/F | Alive | D | - | - | - | - | - | 11 |
| 17 | 12 | II.2 | Qatar | C186S | 13.0/F | Alive | L | - | - | Se | - | - | 11 |
| 18 | 12 | II.6 | Qatar | C186S | 3.4/M | Deceased | D | - | - | - | - | - | - |
| 19 | 13 | II.5 | Qatar | C186S | 10.6/F | Alive | R | M. spp | - | SD | - | - | 11 |
| 20 | 13 | II.7 | Qatar | C186S | 9.1/M | Alive | R | M. spp | - | S. spp | - | - | 11 |
| 21 | 14 | II.2 | Iran | 1791+2T>G | 13.5/M | Alive | nv | - | - | Se | - | - | 11,16 |
| 22 | 15 | II.2 | Pakistan | S321X | 24.2/M | Alive | R | - | - | Se | - | - | 11 |
| 23 | 16 | II.1 | Sri Lanka | 1791+2T>G | 23.9/F | Alive | D | - | - | - | - | - | 11 |
| 24 | 17 | II.1 | France | [Q32X]+[1623_1624delinsT] | 18.8/M | Alive | R | - | - | - | na | na | 11 |
| 25 | 17 | II.2 | France | [Q32X]+[1623_1624delinsT] | 13.8/M | Alive | nv | Mg | - | Stm | na | na | 11 |
| 26 | 18 | II.1 | France | Q376X | 30.8/M | Alive | R | - | - | Sd | Ca | - | 11 |
| 27 | 19 | II.1 | France | [1745 1746delinsCA]+[1483+182_1619-1073del] | 37.2/F | Alive | nk | - | - | S. spp, Sd | Ca | Toxoplasma retinitis | 11,44 |
| 28 | 20 | II.1 | France | Q32X | 11.7/F | Alive | nk | - | - | - | na | na | 11,44 |
| 29 | 21 | II.1 | Belgium | Q32X | 21.5/F | Alive | nv | - | - | - | na | na | 11,44 |
| 30 | 21 | II.2 | Belgium | Q32X | 7.2/F | Deceased | nv | Ma | - | Se | Ca | - | 11,34 |
| 31 | 22 | II.1 | Germany | 1623_1624delinsTT | 3.5/M | Deceased | nv | Ma | - | - | na | na | 11 |
| 32 | 23 | II.1 | Germany | 1623_1624delinsTT | 14.9/F | Alive | D | - | - | Se | - | - | 11 |
| 33 | 23 | II.2 | Germany | 1623_1624delinsTT | 11.9/F | Alive | nv | - | - | S. spp | - | - | 11 |
| 34 | 24 | II.1 | Spain | 1791+2T>G | 21.5/F | Alive | nv | - | - | - | - | - | 5,11 |
| 35 | 24 | II.2 | Spain | 1791+2T>G | 11.5/F | Alive | nv | - | Mtb | - | - | - | 5,11 |
| 36 | 24 | II.3 | Spain | 1791+2T>G | 18.9/F | Alive | nv | - | Mtb | Se | - | - | 5,11 |
| 37 | 25 | II.1 | Spain | 1791+2T>G | 7.5/F | Deceased | nv | Ma | - | Se | Ca | - | 11 |
| 38 | 26 | II.1 | Bosnia and Herzegovina | NA | 3.8/M | Deceased | D | - | - | - | - | - | 11 |
| 39 | 26 | II.4 | Bosnia and Herzegovina | 549+2T>C | 12.0/F | Alive | nv | M. spp | - | - | - | - | 11 |
| 40 | 27 | II.2 | Slovakia | [1440_1447delins16]+[Q171P] | 2.4/F | Deceased | D | - | - | - | - | - | 11,20 |
| 41 | 28 | II.3 | Slovakia | [1007_1008delinsG]+[Q171P] | 9.0/F | Alive | D | - | - | - | - | - | 11,20 |
| 42 | 29 | II.1 | Brazil | L77P | 29.8/M | Alive | L | - | - | Stm | - | Paracoccidioides brasiliensis, Toxoplasma gondii chorioretinitis | 11,21 |
| 43 | 30 | II.5 | Spain | NA | 6.9/M | Deceased | na | - | - | Se | Ca | - | - |
| 44 | 30 | II.6 | Spain | 1791+2T>G | 30.2/M | Deceased | nv | - | - | Se, Sp | Ca | Esophageal carcinoma | - |
| 45 | 31 | II.6 | Mexico | NA | na/M | Deceased | na | - | - | S. spp | - | - | - |
| 46 | 31 | II.8 | Mexico | 1791+2T>G | 34.0/M | Alive | R | - | - | SB | - | - | - |
| 47 | 32 | II.2 | Belgium | [1623_1624delinsTT]+[65delCTGC] | 13.7/F | Deceased | nv | Ma | - | - | - | - | 46,49 |
| 48 | 33 | II.1 | France | [C196Y]+[1483+182_1619-1073del] | 27.8/F | Alive | R | - | - | Stm | na | na | 31 |
| 49 | 34 | II.2 | Poland | [I369T]+[1623_1624delinsTT] | 5.9/F | Deceased | D | - | - | - | - | - | - |
| 50 | 35 | II.3 | KSA | Y88X | 12.1/M | Alive | D | - | - | SD | - | - | - |
| 51 | 35 | II.4 | KSA | Y88X | 6.1/F | Alive | D | - | - | SD | - | Citrobacter freundii | - |
| 52 | 36 | II.6 | Qatar | C186S | 8.5/F | Alive | R | - | - | SD | - | Ataxia-telangiectasia | 48 |
| 53 | 37 | II.1 | Turkey | R173P | 14.3/M | Alive | R | - | - | Se | - | - | 44 |
| 54 | 38 | II.2 | Turkey | 711insC | 2.0/F | Deceased | D | - | - | - | Ca | - | 26 |
| 55 | 39 | II.1 | Turkey | 628-644dup | 10.7/M | Alive | L | - | - | S. spp | - | - | - |
| 56 | 39 | II.2 | Turkey | 628-644dup | 4.9/M | Deceased | L | Ma | - | S. spp | Ca | - | 26 |
| 57 | 39 | II.5 | Turkey | 628-644dup | 2.5/M | Alive | L | - | - | - | Ca | - | - |
| 58 | 40 | II.2 | KSA | 1336delC | 7.8/M | Alive | L | - | - | - | - | - | - |
| 59 | 40 | II.3 | KSA | 1336delC | 3.8/F | Deceased | D | - | - | - | - | - | - |
| 60 | 41 | II.2 | Turkey | 783+1G>A | 3.1/M | Deceased | R | - | - | Se | Ca | - | 26 |
| 61 | 42 | II.1 | Israel (Arabic) | 700+362_1619-944del | 11.5/F | Alive | nv | - | - | - | - | - | - |
| 62 | 42 | II.2 | Israel (Arabic) | 700+362_1619-944del | 9.4/M | Deceased | nv | Ma | - | Stm | - | - | 29 |
| 63 | 42 | II.3 | Israel (Arabic) | 700+362_1619-944del | 2.1/F | Deceased | nv | Ma | - | - | - | - | - |
| 64 | 43 | II.1 | Turkey | R486X | 4.0/M | Alive | L | - | - | - | - | - | 50 |
| 65 | 44 | II.1 | Mexico | 1791+2T>G | 3.6/F | Deceased | D | - | - | - | Ca | - | - |
| 66 | 44 | II.2 | Mexico | 1791+2T>G | 2.2/M | Alive | nv | - | - | - | - | - | - |
| 67 | 44 | II.3 | Mexico | 1791+2T>G | 8 mo/F | Alive | nv | - | - | - | - | - | - |
| 68 | 45 | II.4 | Iran | 1791+2T>G | 8.6/F | Alive | D | - | - | - | - | - | - |
| 69 | 46 | I.2 | Iran | 580+1G>A | na/F | Alive | na | - | - | - | na | na | - |
| 70 | 46 | II.2 | Iran | 580+1G>A | 4.1/M | Alive | D | - | - | - | - | - | - |
| 71 | 47 | II.1 | Brazil | [983_999del] + [R173W] | 5.8/F | Alive | D | - | - | - | - | - | - |
| 72 | 48 | II.1 | KSA | Y88X | 3.4/F | Alive | D | - | - | - | - | - | - |
| 49 | II.1 | Turkey | 783+1G>A | 1.9/M | Deceased | D | - | - | - | Ca | - | - | |
| 74 | 50 | II.1 | Brazil | 1791+2T>G | 2.0/M | Deceased | D | - | - | - | - | - | 36 |
| 75 | 51 | II.2 | KSA | Y88X | 5.1/M | Alive | D | Ms | - | - | - | - | - |
| 76 | 52 | II.3 | Venezuela | R173W | 13.7/M | Deceased | R | - | - | Se | Ca | - | - |
| 77 | 53 | II.2 | Ukraine | [1189+2T>A]+[1791+2T>G] | 9.1/M | Alive | D | M. spp | - | Stm, Se | - | - | - |
| 78 | 54 | II.1 | India | R521X | 8.5/F | Alive | D | - | Mtb | - | - | Histoplasmosis | - |
| 79 | 55 | II.1 | Taiwan | R211P | 23.5/M | Alive | R | - | - | Se | - | - | 22,47 |
| 80 | 56 | II.1 | Poland | R173W | 16.6/F | Alive | D | - | - | Se | - | - | - |
| 81 | 57 | II.1 | Mexico | 1791+2T>G | 16.5/M | Deceased | D | - | - | - | Ca | - | - |
| 82 | 57 | II.5 | Mexico | 1791+2T>G | 3.3/M | Deceased | D | - | - | - | - | - | - |
| 83 | 58 | II.1 | China | NA | 1.2/M | Deceased | D | - | - | - | - | - | 30 |
| 84 | 58 | II.2 | China | 1791+2T>G | 3.8/F | Alive | D | - | - | - | - | - | 30 |
| 85 | 59 | II.1 | Chile | [169delA]+[C62G] | 2.1/M | Deceased | D | - | - | - | - | - | - |
| 86 | 60 | II.1 | Turkey | C198R | 7.9/F | Alive | R | - | - | - | - | - | - |
| 87 | 60 | II.2 | Turkey | C198R | 3.7/M | Alive | L | - | - | Stm | - | - | - |
| 88 | 61 | II.1 | China | NA | 10.6/M | Deceased | nv | - | Mtb | - | - | - | 30 |
| 89 | 61 | II.2 | China | Q285X | 2.0/F | Deceased | D | - | - | - | - | - | 30 |
| 90 | 62 | II.1 | Iran | R521X | 7.5/M | Alive | D | - | - | - | - | - | - |
| 91 | 63 | II.2 | KSA | 1190-1G>A | 13.1/M | Alive | D | - | - | Stm | - | - | 44 |
| 92 | 63 | II.4 | KSA | 1190-1G>A | 9.1/M | Alive | R | - | - | SD | - | - | 44 |
| 93 | 64 | II.2 | Netherlands | Q376X | 28.4/F | Deceased | nv | Ma | - | Stm | Ca | - | 10,37 |
| 94 | 65 | II.1 | Argentina | [E67X]+[1623_1624delinsTT] | 3.1/M | Alive | D | - | - | - | - | - | 49 |
| 95 | 66 | II.1 | UK | 1623_1624delinsTT | 6.8/F | Deceased | nv | MAIc | - | - | - | Klebsiella pneumoniae | - |
| 96 | 67 | II.1 | Ukraine | E480X | 11.6/M | Alive | L | - | - | Stm | - | - | - |
| 97 | 67 | II.2 | Ukraine | E480X | 2.7/M | Alive | D | - | - | Stm | - | - | - |
| 98 | 68 | II.3 | Turkey | NA | 4.4/F | Deceased | D | - | - | - | na | - | - |
| 99 | 68 | II.4 | Turkey | NA | 5.0/F | Deceased | D | - | - | - | na | - | - |
| 100 | 68 | II.6 | Turkey | R175W | 2.6/M | Alive | L | - | - | - | - | - | - |
| 101 | 69 | II.1 | Turkey | R175W | 6.0/F | Alive | R | - | - | Se | - | - | 27 |
| 102 | 70 | II.1 | French West Indies | 1765delG | 32.0/M | Alive | M. spp | M. spp | M. spp | SD | - | - | - |
| 103 | 71 | II.1 | Turkey | 467_483del | 5.0/M | Deceased | D | - | - | - | - | - | 17 |
| 104 | 71 | II.2 | Turkey | 467_483del | 8.0/M | Alive | nv | - | - | SD | - | Leishmania | 17,23,28 |
| 105 | 72 | II.2 | Turkey | C198R | 15.7/M | Alive | D | - | - | - | - | - | 17 |
| 106 | 73 | II.1 | Turkey | 783+1G>A | 4.0/M | Deceased | D | - | - | - | Ca | - | 17 |
| 107 | 73 | II.2 | Turkey | 783+1G>A | 10.2/F | Alive | nv | M. spp | M. spp | SB, SD | Ca | Leukocytoclastic vasculitis | 17 |
| 108 | 74 | II.1 | Turkey | NA | 4.2/F | Deceased | D | - | - | - | - | - | 35 |
| 109 | 74 | II.2 | Turkey | 783+1G>A | 11.1/M | Alive | nv | - | - | SD | - | - | 23 |
| 110 | 75 | II.1 | Turkey | 783+1G>A | 7.0/F | Deceased | D | - | - | - | Ca | - | 17 |
| 111 | 75 | II.2 | Turkey | 783+1G>A | 4.0/M | Deceased | D | - | - | - | Ca | - | 17 |
| 112 | 76 | II.1 | Turkey | 783+1G>A | 6.4/F | Alive | L | - | - | - | - | - | - |
| 113 | 77 | II.1 | Turkey | R173P | 16.8/M | Alive | L | - | - | Se, St, Spt | - | - | 23 |
| 114 | 78 | II.2 | Mexico | R486X | 4.7/M | Deceased | D | - | - | S. spp | Ca | K. pneumoniae | - |
| 115 | 79 | II.5 | KSA | Y88X | 5.7/F | Alive | R | - | - | SB | - | Klebsiella spp. | - |
| 116 | 79 | II.6 | KSA | Y88X | 1.3/M | Alive | L | - | - | - | - | - | - |
| 117 | 80 | II.7 | Qatar | C186S | 1.6/F | Alive | D | - | - | - | - | - | - |
| 118 | 81 | II.1 | Turkey | 64+2T>G | 4.2/M | Alive | D | - | - | - | Ca | - | - |
| 119 | 82 | II.5 | Turkey | 1425delC | 3.0/M | Alive | D | - | - | Se | Ca | - | - |
| 120 | 83 | II.1 | Turkey | 783+1G>A | 3.9/M | Alive | D | - | - | - | Ca | - | - |
| 121 | 84 | II.3 | Iran | G569D | 5.5/F | Alive | D | - | Mtb | - | - | - | - |
| 122 | 85 | II.4 | Iran | T355del | 32.4/M | Alive | R | - | Mtb | - | - | - | - |
| 123 | 86 | II.1 | KSA | 1791+2T>G | 2.0/F | Alive | D | - | - | - | - | - | - |
| 124 | 87 | II.1 | Turkey | 64+2T>G | 1.7/M | Alive | L | - | - | - | - | - | - |
| 125 | 88 | II.1 | UK | Q32X | 46.4/F | Alive | R | - | - | - | - | - | - |
| 126 | 89 | II.1 | Turkey | 1791+2T>G | 3.9/F | Alive | L | - | - | - | Ca | - | |
| 127 | 89 | II.2 | Turkey | 1791+2T>G | 1.4/F | Alive | nv | - | - | - | - | Nocardia nova and K. pneumoniae | - |
| 128 | 90 | II.1 | Argentina | 1623_1624delinsTT | 4.6/M | Alive | D | - | - | - | - | - | 49 |
| 129 | 91 | II.2 | Argentina | W531X | 10.3/F | Alive | D | - | - | - | - | - | - |
| 130 | 92 | II.1 | Argentina | [1623 1624delinsTT]+[DelEx4] | 8.2/F | Alive | D | - | - | - | - | - | 49 |
| 131 | 93 | II.3 | Argentina | 1623_1624delinsTT | 19.8/M | Alive | D | - | - | - | - | - | 24,49 |
| 132 | 94 | II.2 | Japan | R213W | 37.7/M | Deceased | R | Ma | - | - | - | - | 13 |
| 133 | 95 | II.4 | Tunisia | 64+2T>G | 10.9/M | Alive | D | - | - | - | Ca | - | - |
| 134 | 96 | II.1 | Tunisia | 1386_1387delGT | 6 mo/F | Deceased | D | - | - | - | Ca | - | - |
| 135 | 96 | II.2 | Tunisia | 1386_1387delGT | 6 mo/M | Alive | D | - | - | - | - | - | - |
| 136 | 97 | II.1 | Tunisia | NA | 27.6/M | Alive | R | M. spp | - | - | Ca | - | - |
| 137 | 98 | II.1 | Tunisia | 550-2A>G | 7.8/F | Deceased | D | - | - | S. spp | - | K. pneumoniae | 15 |
| 138 | 99 | II.1 | Tunisia | 64+5G>A | 2.5/M | Alive | D | - | - | - | Ca | - | 15 |
| 139 | 100 | II.1 | Argentina | [1623_1624delinsTT]+[nk] | 7 mo/M | Alive | D | - | - | - | - | - | - |
| 140 | 101 | II.2 | Turkey | 1021+1G>C | 15.0/F | Alive | R | - | Mtb | S. spp | - | - | 6 |
| 141 | 102 | II.1 | China | [I369T]+[R211P] | 3.1/M | Alive | D | - | - | - | na | na | - |
Abbreviations: KSA = Kingdom of Saudi Arabia, UK = United Kingdom.
*
Ethnicity is in parentheses where relevant.
†
BCG = Bacille Calmette-Guérin, D = disseminated, L = localized, R = resistant, na = information concerning type of BCG disease is not available, nk = information concerning BCG vaccination is not known, nv = not vaccinated, M. spp = patient had mycobacterial infection without identification of species.
‡
EM = Environmental mycobacteria (nontuberculous mycobacteria), Ma = Mycobacterium avium, M. spp = patient had mycobacterial infection without identification of species, Mt = M. triplex, Mg = M. genevense, Mfc = M. fortuitum-chelonae complex, Mc = M. chelonae, Ms = M. simiae, MAIc = M. avium intracellulare complex.
§
Mtb = M. tuberculosis, M. spp = patient had mycobacterial infection without identification of species.
¶
Stm = Salmonella typhimurium, Sen = S. enteritica, Sd = S. dublin, Sh = S. hadar, Se = S. enteritidis, Sp = S. Portland, SB = S. group B, SD = S. group D, St = S. typhi, Spt = S. paratyphi, S. spp = patient had salmonellosis without identification of species.
**
Ca = Candida albicans, na = information on whether patient had candidiasis is not available.
††
na = Information on whether patient had other diseases is not available.