Patient Characteristics
| Patient Initials . | Score . | cDNA Mutations . | Exon . | Genomic DNA Mutations . | Northern Blot . | Western Blot . |
|---|---|---|---|---|---|---|
| . | . | . | . | . | . | (% of control)* . |
| Mild phenotype (XLT) | ||||||
| JDρ | 2 | |||||
| C113T (Leu27Phe) | 1 | C113T | ++ | + (19) | ||
| JN | 2 | |||||
| T150C (Leu39Pro) | 1 | T150C | ++ | + (12) | ||
| JDe/JTDe | 2/2 | |||||
| T150C (Leu39Pro) | 1 | T150C | ++ | (3.6) | ||
| JG/AVC | 2/2 | |||||
| C168T (Thr45Met) | 2 | C168T | ++ | + (46) | ||
| Cro | 2 | |||||
| C168T (Thr45Met) | 2 | C168T | ++ | + (11) | ||
| JS1-167 | 2 | |||||
| C174A (Ala47Asp) | 2 | C174A | ++ | + (9-30) | ||
| TSρ | 2 | |||||
| C177T (Thr48Ile) | 2 | C177T | ++ | + (9-30) | ||
| MM | 1 | |||||
| C201T (Ala56Val) | 2 | C201T | + | ++ (75) | ||
| DS/DT/JW | 2/2/2 | |||||
| G257A (Val75Met) | 2 | G257A | ++/++/++ | + (24-26) | ||
| JH/CS1-154 | 2/2 | |||||
| C290T (Arg86Cys) | 2 | C290T | ++/++ | ++ (34-60) | ||
| AR1-167 | 1 | |||||
| C290T (Arg86Cys) | 2 | C290T | ND | ND | ||
| JR | 2 | |||||
| G291A (Arg86His) | 2 | G291A | ++ | + (17) | ||
| SJ | 2 | |||||
| A354G (Tyr107Cys) | 3 | A354G | ++ | + (14) | ||
| RC/BG1-154 | 2/2 | |||||
| A953G (Met307Val) | 9 | A953G | (+) | ++ (66) | ||
| BE | 1 | |||||
| 70% ins 38 nt intron 6 (frameshift stop aa 190); 30% normal | Intron 6 | g → a, +5, intron 6 | + | + (3.5) | ||
| JVT | 2 | |||||
| 50% del 966-1121 (inframe del 52 aa); 25% del exon 10 (frameshift, stop aa 334); 25% 1029 ins T (Asn335stop) | 10 | 1029 ins T | (+) | + (truncated) | ||
| Severe phenotype (classic WAS) | ||||||
| JGo | 5 | |||||
| T138A, C139T (Leu35His) | 1 | T138A, C139T | ND | + (30)* | ||
| MS1-167 | 5 | |||||
| G407A (Gly125Arg) | 4 | G407A | ++ | (+) (<1) (truncated?) | ||
| GC | 4 | |||||
| T417C (Phe128Ser) | 4 | T417C | ND | ND | ||
| CH/ZRρ | 5/4 | |||||
| G425A (Glu131Lys)/C290T (Arg86Cys) | 4 | G425A | ++/++ | (+) (4-10) (truncated?) | ||
| ST | 3 | |||||
| G425A (Glu131Lys), G431A (Glu133Lys) | 4 | G425A, G431A | ++ | (+) (0.5) (truncated?) | ||
| CC | 4 | |||||
| C435T (Ala34Val) | 4 | C435T | ND | + (65) | ||
| DM1-167 | 5 | |||||
| C71T (Arg13stop) | 1 | C71T | ++ | — | ||
| Kpe | 4 | |||||
| C71T (Arg13stop) | 1 | C71T | ++ | — | ||
| AT | 4 | |||||
| C665T (Arg211stop) | 7 | C665T | — | — | ||
| CMcT | 4 | |||||
| C665T (Arg211stop) | 7 | C665T | ND | ND | ||
| MW | 5 | |||||
| C923T (Gln297stop) | 9 | C923T | (+) | — | ||
| TH/DH1-167 | 3/2† | |||||
| C995T (Arg321stop) | 10 | C995T | (+) | — | ||
| SB/HB | 5/5 | |||||
| C995T (Arg321stop) | 10 | C995T | (+) | — | ||
| RM∥# | 5 | |||||
| C329T(Gln99stop), del exon 3 (del 29 aa) | 3 | C329T | (+) | — | ||
| EA1-167 | 3 | |||||
| 62-64 ins C (frameshift, stop aa 37) | 1 | C62-64 ins | + | — | ||
| DB | 4 | |||||
| 140-142 del TT(Phe36stop) | 1 | 140-142 del TT | ++ | (+)* | ||
| RP/EMρ | 5/5 | |||||
| 211 del T (frameshift, stop aa 75) | 2 | 211 del T | +/++ | — | ||
| TF | 5 | |||||
| 206-210 del C (frameshift stop aa 75) | 2 | 206-210 del C | ND | ND | ||
| LL | 4 | |||||
| ND (expected: frameshift, stop aa 126) | 3 | 312 del G, 313 del T | ND | ND | ||
| SH | 4 | |||||
| 1030-1035 del G (frameshift, stop aa 444) | 10 | 1030-1035 del G | (+) | — | ||
| CMc | 3 | |||||
| 1025 ins A (frameshift, stop 335) | 10 | 1025 ins A | + | + (truncated) | ||
| JSc | 5 | |||||
| 1109-1113 del C (frameshift, stop aa 444) | 10 | 1109-1113 del C | (+) | (+) (truncated) | ||
| DJρ | 4 | |||||
| C1109A (Pro359Thr) + 1110-1113 del C (frameshift, stop aa 444) | 10 | C1109A, 1110-1113 del C | (+) | + (truncated) | ||
| RW | 4 | |||||
| 1301-1305 ins G (frameshift, stop aa 494) | 10 | 1301-1305 ins G | ++ | ++ (truncated, unstable) | ||
| AG | 5 | |||||
| 1301-1305 ins G (frameshift, stop aa 494) | 10 | 1301-1305 ins G | ++ | ++ (truncated, unstable) | ||
| CR1-167 | 5 | |||||
| 1301-1305 del G (frameshift, stop aa 444) | 10 | 1301-1305 del G | (+) | ++ (truncated, unstable) | ||
| PP1-167 | 4 | |||||
| 1372 ins 13 nt (frameshift, stop aa 498) | 10/11 | del 9 nt, ins 11 nt, intron 10 | ++ | + (truncated) | ||
| SD | 3 | |||||
| ins intron 3 (frameshift, stop 200) | Intron 3 | g → a, −1, intron 3 | (+) | — | ||
| Dma | 4 | del 705-768 (frameshift, stop aa 239) | 7 | A705G (ATA → gta) | — | — |
| MB¶#/TD‡ | 4/2‡ | |||||
| 80% ins 114 nt of intron 9 (frameshift, stop aa 326); 20% ins intron 9 (frameshift, stop aa 326) | Intron 9 | t → c, +2, intron 9 | ++ (longer) | — | ||
| BM1-167 | 4 | |||||
| del exon 11 (1373-1487) (frameshift, stop aa 543) | Intron 11 | t → c, +2, intron 11 | ++ | + (unstable) | ||
| KP | 5 | |||||
| del exon 11 (1373-1487) (frameshift, stop aa 543) | Intron 11 | t → g, +2, intron 11 | + | + (unstable) |
| Patient Initials . | Score . | cDNA Mutations . | Exon . | Genomic DNA Mutations . | Northern Blot . | Western Blot . |
|---|---|---|---|---|---|---|
| . | . | . | . | . | . | (% of control)* . |
| Mild phenotype (XLT) | ||||||
| JDρ | 2 | |||||
| C113T (Leu27Phe) | 1 | C113T | ++ | + (19) | ||
| JN | 2 | |||||
| T150C (Leu39Pro) | 1 | T150C | ++ | + (12) | ||
| JDe/JTDe | 2/2 | |||||
| T150C (Leu39Pro) | 1 | T150C | ++ | (3.6) | ||
| JG/AVC | 2/2 | |||||
| C168T (Thr45Met) | 2 | C168T | ++ | + (46) | ||
| Cro | 2 | |||||
| C168T (Thr45Met) | 2 | C168T | ++ | + (11) | ||
| JS1-167 | 2 | |||||
| C174A (Ala47Asp) | 2 | C174A | ++ | + (9-30) | ||
| TSρ | 2 | |||||
| C177T (Thr48Ile) | 2 | C177T | ++ | + (9-30) | ||
| MM | 1 | |||||
| C201T (Ala56Val) | 2 | C201T | + | ++ (75) | ||
| DS/DT/JW | 2/2/2 | |||||
| G257A (Val75Met) | 2 | G257A | ++/++/++ | + (24-26) | ||
| JH/CS1-154 | 2/2 | |||||
| C290T (Arg86Cys) | 2 | C290T | ++/++ | ++ (34-60) | ||
| AR1-167 | 1 | |||||
| C290T (Arg86Cys) | 2 | C290T | ND | ND | ||
| JR | 2 | |||||
| G291A (Arg86His) | 2 | G291A | ++ | + (17) | ||
| SJ | 2 | |||||
| A354G (Tyr107Cys) | 3 | A354G | ++ | + (14) | ||
| RC/BG1-154 | 2/2 | |||||
| A953G (Met307Val) | 9 | A953G | (+) | ++ (66) | ||
| BE | 1 | |||||
| 70% ins 38 nt intron 6 (frameshift stop aa 190); 30% normal | Intron 6 | g → a, +5, intron 6 | + | + (3.5) | ||
| JVT | 2 | |||||
| 50% del 966-1121 (inframe del 52 aa); 25% del exon 10 (frameshift, stop aa 334); 25% 1029 ins T (Asn335stop) | 10 | 1029 ins T | (+) | + (truncated) | ||
| Severe phenotype (classic WAS) | ||||||
| JGo | 5 | |||||
| T138A, C139T (Leu35His) | 1 | T138A, C139T | ND | + (30)* | ||
| MS1-167 | 5 | |||||
| G407A (Gly125Arg) | 4 | G407A | ++ | (+) (<1) (truncated?) | ||
| GC | 4 | |||||
| T417C (Phe128Ser) | 4 | T417C | ND | ND | ||
| CH/ZRρ | 5/4 | |||||
| G425A (Glu131Lys)/C290T (Arg86Cys) | 4 | G425A | ++/++ | (+) (4-10) (truncated?) | ||
| ST | 3 | |||||
| G425A (Glu131Lys), G431A (Glu133Lys) | 4 | G425A, G431A | ++ | (+) (0.5) (truncated?) | ||
| CC | 4 | |||||
| C435T (Ala34Val) | 4 | C435T | ND | + (65) | ||
| DM1-167 | 5 | |||||
| C71T (Arg13stop) | 1 | C71T | ++ | — | ||
| Kpe | 4 | |||||
| C71T (Arg13stop) | 1 | C71T | ++ | — | ||
| AT | 4 | |||||
| C665T (Arg211stop) | 7 | C665T | — | — | ||
| CMcT | 4 | |||||
| C665T (Arg211stop) | 7 | C665T | ND | ND | ||
| MW | 5 | |||||
| C923T (Gln297stop) | 9 | C923T | (+) | — | ||
| TH/DH1-167 | 3/2† | |||||
| C995T (Arg321stop) | 10 | C995T | (+) | — | ||
| SB/HB | 5/5 | |||||
| C995T (Arg321stop) | 10 | C995T | (+) | — | ||
| RM∥# | 5 | |||||
| C329T(Gln99stop), del exon 3 (del 29 aa) | 3 | C329T | (+) | — | ||
| EA1-167 | 3 | |||||
| 62-64 ins C (frameshift, stop aa 37) | 1 | C62-64 ins | + | — | ||
| DB | 4 | |||||
| 140-142 del TT(Phe36stop) | 1 | 140-142 del TT | ++ | (+)* | ||
| RP/EMρ | 5/5 | |||||
| 211 del T (frameshift, stop aa 75) | 2 | 211 del T | +/++ | — | ||
| TF | 5 | |||||
| 206-210 del C (frameshift stop aa 75) | 2 | 206-210 del C | ND | ND | ||
| LL | 4 | |||||
| ND (expected: frameshift, stop aa 126) | 3 | 312 del G, 313 del T | ND | ND | ||
| SH | 4 | |||||
| 1030-1035 del G (frameshift, stop aa 444) | 10 | 1030-1035 del G | (+) | — | ||
| CMc | 3 | |||||
| 1025 ins A (frameshift, stop 335) | 10 | 1025 ins A | + | + (truncated) | ||
| JSc | 5 | |||||
| 1109-1113 del C (frameshift, stop aa 444) | 10 | 1109-1113 del C | (+) | (+) (truncated) | ||
| DJρ | 4 | |||||
| C1109A (Pro359Thr) + 1110-1113 del C (frameshift, stop aa 444) | 10 | C1109A, 1110-1113 del C | (+) | + (truncated) | ||
| RW | 4 | |||||
| 1301-1305 ins G (frameshift, stop aa 494) | 10 | 1301-1305 ins G | ++ | ++ (truncated, unstable) | ||
| AG | 5 | |||||
| 1301-1305 ins G (frameshift, stop aa 494) | 10 | 1301-1305 ins G | ++ | ++ (truncated, unstable) | ||
| CR1-167 | 5 | |||||
| 1301-1305 del G (frameshift, stop aa 444) | 10 | 1301-1305 del G | (+) | ++ (truncated, unstable) | ||
| PP1-167 | 4 | |||||
| 1372 ins 13 nt (frameshift, stop aa 498) | 10/11 | del 9 nt, ins 11 nt, intron 10 | ++ | + (truncated) | ||
| SD | 3 | |||||
| ins intron 3 (frameshift, stop 200) | Intron 3 | g → a, −1, intron 3 | (+) | — | ||
| Dma | 4 | del 705-768 (frameshift, stop aa 239) | 7 | A705G (ATA → gta) | — | — |
| MB¶#/TD‡ | 4/2‡ | |||||
| 80% ins 114 nt of intron 9 (frameshift, stop aa 326); 20% ins intron 9 (frameshift, stop aa 326) | Intron 9 | t → c, +2, intron 9 | ++ (longer) | — | ||
| BM1-167 | 4 | |||||
| del exon 11 (1373-1487) (frameshift, stop aa 543) | Intron 11 | t → c, +2, intron 11 | ++ | + (unstable) | ||
| KP | 5 | |||||
| del exon 11 (1373-1487) (frameshift, stop aa 543) | Intron 11 | t → g, +2, intron 11 | + | + (unstable) |
Abbreviations: aa, amino acid; del, deletion; ins, insertion.
Cell extracts from EBV-induced B-LCLs established from patients, except for IGo and DB, for whom only frozen PBMCs were available.
DH, the younger brother of TH, underwent bone marrow transplantation (BMT) during his first year of life; he had platelet abnormalities and mild eczema. Two of their uncles died in childhood of WAS, and 1 uncle is alive at 35 years of age with a score of 2.
TD had a BMT at <1 year of age, when he had platelet abnormalities and mild eczema.
ρ Reported by Derry et al, 199534: JD = DV-1, TS = AS-1, CH/ZR = HR 1.1.1/HR 1.1.2, RP/EM = PM 1.1.1/PM 2.1.1, DJ = JN 1.1.1.
Reported by Kwan et al, 199532: RM = 1120.
Reported by Kwan et al, 199533: CS = 26-1038, BG = 25-1039, MB = 11-356.
Reported by Zhu et al.28