Table 1.
Genetic mutations of SCID patients (n = 83).
| No | Gene | Intron (I)/exon (E) | Nucleotide change | Predicted change |
|---|---|---|---|---|
| P001 | IL2RG | E1 | c.3G>T | M1I |
| P002 | IL2RG | E2 | c.127delA | T43fsX70 |
| P003 | IL2RG | E2 | c.202G>T | E68X |
| P004a | IL2RG | E2 | c.202G>A | E68K |
| P004b | IL2RG | E2 | c.202G>A | E68K |
| P005 | IL2RG | E2 | c.202G>A | E68K |
| P006 | IL2RG | E2 | c.252C>A | N84K |
| P007 | IL2RG | I2 | g.IVS2−15A>G | Predicted aberrant splicing |
| P008 | IL2RG | I2 | g.IVS2−15A>G | Predicted aberrant splicing |
| P011e | IL2RG | E3 | c.310_311delinsG | H104fsX146 |
| P012 | IL2RG | E3 | c.340G>T | G114C |
| P013e | IL2RG | E3 | c.359dupA | K120fsX167 |
| P014 | IL2RG | E3 | c.362delA | E121fsX146 |
| P015 | IL2RG | E3 | c.365T>C | I122T |
| P016 | IL2RG | E3 | c.365T>C | I122T |
| P017e | IL2RG | E3 | c.371T>C | L124P |
| P018 | IL2RG | E3 | c.376C>T | Q126X |
| P019e | IL2RG | E3 | c.376C>T | Q126X |
| P020 | IL2RG | E3 | c.383T>C | F128S |
| P021 | IL2RG | E3 | c.386T>A | V129D |
| P022 | IL2RG | E3 | c.406_415del | R136fsX143 |
| P023e | IL2RG | E3 | c.421delC | Q141fsX146 |
| P024 | IL2RG | I3/E4 junction | g.IVS3−2A>T | Predicted aberrant splicing |
| P025e | IL2RG | E4 | c.507delG | Q169fsX170 |
| P026 | IL2RG | E4 | c.507delG | Q169fsX170 |
| P027e | IL2RG | E4 | c.562C>T | Q188X |
| P028 | IL2RG | E4 | c.562C>T | Q188X |
| P030 | IL2RG | E5 | c.658_659del | T220fsX227 |
| P031 | IL2RG | E5 | c.664C>T | R222C |
| P032e | IL2RG | E5 | c.670C>T | R224W |
| P033 | IL2RG | E5 | c.670C>T | R224W |
| P034 | IL2RG | E5 | c.676C>T | R226C |
| P036e | IL2RG | E5 | c.677G>A | R226H |
| P037 | IL2RG | E5 | c.694G>C | G232R |
| P038 | IL2RG | E5 | c.709T>C | W237R |
| P039e | IL2RG | E5 | c.711G>A | W237X |
| P040e | IL2RG | E5 | c.722G>T | S241I |
| P041 | IL2RG | E5 | c.741delG | G247fsX272 |
| P042 | IL2RG | E5 | c.741_742insG | E248fsX302 |
| P044 | IL2RG | E6 | c.811G>T | G271X |
| P045e | IL2RG | E6 | c.835delG | V279fsX293 |
| P046 | IL2RG | E6/I6 junction | c.854G>T | R285L |
| P047e | IL2RG | E6/I6 junction | c.854G>Af | Predicted aberrant splicing |
| R285Q | ||||
| P048e | IL2RG | E6/I6 junction | c.854G>Af | Predicted aberrant splicing |
| R285Q | ||||
| P049e | IL2RG | E6/I6 junction | c.854G>Af | Predicted aberrant splicing |
| R285Q | ||||
| P050e | IL2RG | E6/I6 junction | c.854G>Af | Predicted aberrant splicing |
| R285Q | ||||
| P051 | IL2RG | E6/I6 junction | c.854G>Af | Predicted aberrant splicing |
| R285Q | ||||
| P052 | IL2RG | E6/I6 junction | c.854G>Af | Predicted aberrant splicing |
| R285Q | ||||
| P053e | IL2RG | I6-I7 | g.IVS6-72_IVS7-11del | Predicted exon 7 deletion |
| P055 | IL2RG | I6/E7 junction | g.IVS6−2A>C | Predicted aberrant splicing |
| P056 | IL2RG | I6 | g.IVS6+3G>T | Predicted aberrant splicing |
| P057e | IL2RG | I6 | g.IVS6+5G>A | Predicted aberrant splicing |
| P058e | IL2RG | I6 | g.IVS6+5G>A | Predicted aberrant splicing |
| P059 | IL2RG | E7 | c.865C>T | R289X |
| P060 | IL2RG | E8 | c.929G>A | W310X |
| P062 | IL2RG | E8 | c.979_980delinsTT | E327L |
| P063a | IL2RG | E8 | c.982C>T | R328X |
| P064 | ADA | E7 | c.646G>A | G216R |
| E11 | c.1018_1019del | K340fsX348 | ||
| P065b | DCLRE1C | E1-E3 | Gross deletion | Gross deletion |
| P066b | DCLRE1C | E1-E4 | Gross deletion | Gross deletion |
| P068e | DCLRE1C | I3/E4 junction | c.IVS3−1G>T | I83-G102del |
| Exon 4 skippeda | ||||
| E8 | c.632G>T | G211V | ||
| P069e | IL7R | E1 | c.65G>T | S22I |
| E2/I2 junction | g.IVS2+2T>A | Predicted aberrant splicing | ||
| P070b,e | IL7R | E5 | c.562delC | L188X |
| P071b | IL7R | E5 | c.616C>T | R206X |
| P072 | JAK3 | E2 | c.115dupC | Q39fsX51 |
| E13 | c.1744C>T | R582W | ||
| P073 | JAK3 | E3 | c.307C>T | R103C |
| E10 | c.1333C>T | R445X | ||
| P074e | JAK3 | E13 | c.1763A>C | H588P |
| P075b,e | JAK3 | I14 | g.IVS14−11G>A | 638_639insPPX |
| c.1914_1915insCCCCCTTAGa | ||||
| P076c | JAK3 | E16 | c.2062A>T | I688F |
| P077 | RAG1 | E2 | c.994C>T | R332X |
| E2 | c.3074dupT | L1025fsX1064 | ||
| P078e | RAG1 | E2 | c.1178delG | G393fsX402 |
| E2 | c.2095C>T | R699W | ||
| P079 | RAG1 | E2 | c.1328G>A | R443K |
| E2 | c.2486_2490del | R829fsX869 | ||
| P080 | RAG1 | E2 | c.1681C>T | R561C |
| E2 | c.2561G>A | G854D | ||
| P081d | RAG1 | E2 | c.2005G>A | E669K |
| P083 | RAG1 | E2 | c.2324T>A | L775Q |
| E2 | c.2918G>A | R973H | ||
| P084e | RAG2 | E1/I1 junction | c.-28G>C | Predicted aberrant splicing |
| E2 | c.358delG | V120fsX130 | ||
| P085b | RAG2 | E2 | c.104G>T | G35V |
| P086b | RAG2 | E2 | c.104G>T | G35V |
| P087 | RAG2 | E2 | c.104G>T | G35V |
| E2 | c.475C>T | R159C | ||
| P088b | RAG2 | E2 | c.218G>A | R73H |
| P089 | RAG2 | E2 | c.442C>T | R148X |
| E2 | c.685C>T | R229W | ||
| P091 | RFXANK | E3/I3 junction | g.IVS3+1delG | Predicted aberrant splicing |
| E5 | c.299_300del | Q100fsX113 | ||
| P092b | RFXANK | E5 | c.299_300del | Q100fsX113 |
ADA, adenosine deaminase; DCLRE1C, DNA cross-link repair enzyme 1C; IL2RG, interleukin-2 receptor subunit gamma; IL7R, interleukin-7 receptor subunit alpha; JAK3, Janus kinase 3; RAG, recombinase activating genes; RFXANK, regulatory factor X-associated ankyrin-containing protein.
aFrom RT-PCR results.
bHomozygous mutations.
cP076 was a B+NK− patient with hypogammaglobulinemia (IgG 1.45 g/L, IgA 0.23 g/L, and IgM 0.26 g/L) whose mother was a heterozygous carrier.
dOnly one mutation was found.
ePatients reported in our previous study (13).
fPrevious study reported 854G>A may cause R285Q or skipping of exon 6 (27). P004a and P004b and P063a and P063b (Table SE1 in Supplementary Material) were from the same kindred.