Table 1.
Mutations identified in the cohort of patients analyzed.
| Gene | Exon | cDNA | Protein | Mutation type | No. of families | References |
|---|---|---|---|---|---|---|
| FOXP3∧1 | −1 | c.-6247_4859del | Large non-coding deletion | Splicing | 1 | (45) |
| FOXP3 | 1 | c.29_47del | p.S10Lfs*46 | Frameshift deletion | 1 | Unpublished |
| FOXP3 | 1+ | c.210+1delG | Miss-spliced protein | Splicing | 1 | Unpublished |
| FOXP3 | 1+ | c.210+1G>C | Miss-spliced protein | Splicing | 1 | (18) |
| FOXP3 | 1+ | c.210+2del | Miss-spliced protein | Splicing | 1 | (46) |
| FOXP3 | 2 | c.227del | p.L76Qfs*53 | Frameshift deletion | 1 | (8, 47–49) |
| FOXP3 | 2 | c.232_233del | p.M78Gfs*127 | Frameshift deletion | 1 | Unpublished |
| FOXP3 | 2 | c.239del | p.A80Dfs*49 | Frameshift deletion | 1 | Unpublished |
| FOXP3 | 2 | c.303_304del | p.F102Hfs*103 | Frameshift deletion | 1 | (50) |
| FOXP3 | 3+ | c.454+4A>G | Miss-spliced protein | Splicing | 1 | (51) |
| FOXP3 | 4- | c.455-1G>C | Miss-spliced protein | Splicing | 1 | Unpublished |
| FOXP3 | 6 | c.694T>G | p.C232G | Missense | 1 | (52) |
| FOXP3 | 6 | c.725T>C | p.L242P | Missense | 1 | (53, 54) |
| FOXP3 | 7– | c.736-2A>C | Miss-spliced protein | Splicing | 1 | (55) |
| FOXP3 | 7 | c.748_750del | p. K250del | In Frame Deletion | 3 | (56–58) |
| FOXP3 | 7 | c.751_753del | p. E 251del | In Frame Deletion | 5 | (5, 54, 59) |
| FOXP3 | 7 | c.758T>C | p.L253P | Missense | 1 | (60) |
| FOXP3 | 7 | c.767T>C | p.M256T | Missense | 1 | Unpublished |
| FOXP3 | 7+ | c.816+2delT | Miss-spliced protein | Splicing | 1 | (61) |
| FOXP3 | 7+ | c.816+3G>C | Miss-spliced protein | Splicing | 1 | Unpublished |
| FOXP3 | 7+ | c.816+5G>A | Miss-spliced protein | Splicing | 2 | (53, 54) |
| FOXP3 | 7+ | c.816+7G >C | Miss-spliced protein | Splicing | 1 | (62) |
| FOXP3 | 8 | c.817G>T | p.A273S | Missense | 1 | (63) |
| FOXP3 | 9 | c.967G >A | p.E323K | Missense | 1 | Unpublished |
| FOXP3 | 9 | c.970T>C | p.F324L | Missense | 1 | (64, 65) |
| FOXP3 | 9 | c.994A>G | p.K332E | Missense | 1 | Unpublished |
| FOXP3 | 9 | c.1010G>A | p.R337Q | Missense | 4 | (66–68) |
| FOXP3 | 9 | c.1037T>C | p.I346T | Missense | 1 | (61) |
| FOXP3 | 9 | c.1040G>A | p.R347H | Missense | 2 | (61, 65) |
| FOXP3 | 10 | c.1087A>G | p.I363V | Missense | 1 | (8, 56) |
| FOXP3 | 10 | c.1099T>C | p.F367L | Missense | 1 | (69) |
| FOXP3 | 10 | c.1110G>A | p.M370I | Missense | 1 | (70) |
| FOXP3 | 11 | c.1150G>A | p.A384T | Missense | 8 | (7, 53, 71, 72) |
| FOXP3 | 11 | c.1157G>A | p.R386H | Missense | 3 | (63) |
| FOXP3 | 11 | c.1169G>A | p.S390N | Missense | 1 | (73) |
| FOXP3 | 11 | c.1189C>T | p.R397W | Missense | 2 | (7, 56, 74) |
| FOXP3 | 11 | c.1190G>A | p.R397Q | Missense | 1 | (63) |
| FOXP3 | 11 | c.1222G>A | p.V408M | Missense | 1 | (66) |
| FOXP3 | 11 | c.1226A>C | p.D409A | Missense | 1 | (75) |
| FOXP3 | 11 | c.1227_1235del | p.D409_L411del | In Frame Deletion | 1 | (76) |
| FOXP3 | 11 | c.1271G>A | p.C424Y | Missense | 1 | (56, 75) |
| FOXP3 | 11 | c.1293_1294del | p.*432Text25 | Frameshift deletion | 1 | (6) |
| FOXP3 | Poly A | AAUAAA>AAUGAA | Unstable mRNA | 2 | (42) | |
| FOXP3 | Poly A | AAUAAA>AAUAAG | Unstable mRNA | 1 | (77) | |
| IL2RA∧2 | 2 | c.151T>G | p.C51G | Homozygous Missense | 1 | Paper submitted |
| IL2RA | 2 | c.452A>C | p.Q151P | Homozygous Missense | 1 | Unpublished |
| LRBA∧3 | 21 | c.2496C>A | p.C832* | Homozygous Nonsense | 1 | Unpublished |
| LRBA | 22 | c.2617_2620del | p.L873Afs*13 | Homozygous Frameshift deletion | 1 | Unpublished |
| LRBA | 36 | c.5680A>T | p.R1894* | Homozygous Nonsense | 1 | Unpublished |
| CTLA4∧4 | 2 | c.436G>A | p.G146R | Heterozygous Missense | 1 | Unpublished |
| CTLA4 | 2 | c.410C>T | p.P137L | Heterozygous Missense | 1 | (78) |
| STAT1∧5 GOF | 12 | c.1073T>G/T | p.L358W | Heterozygous Missense | 1 | (37) |
| STAT1 GOF | 14 | c.1154 C>T/C | p.T385M | Heterozygous Missense | 1 | (79) |
| STAT1 GOF | 12 | c.1053G>T/G | p.L351F | Heterozygous Missense | 1 | (80) |
| STAT1 GOF | 11 | c.983A>G/A | p.H328R | Heterozygous Missense | 1 | (81) |
| STAT3∧6 GOF | 9 | c.832C>T/C | p.R278C | Heterozygous Missense | 1 | Unpublished |
| STAT3 GOF | 10 | c.986T>G/T | p.M329R | Heterozygous Missense | 1 | Unpublished |
| STAT3 GOF | 11 | c.1079A>G/A | p.Y360C | Heterozygous Missense | 1 | Unpublished |
| STAT3 GOF | 14 | c. 1243 G>C/G | p.E415Q | Heterozygous Missense | 1 | Unpublished |
| STAT5b∧7 | 9 | c.1680+1del | Splicing | 1 | (82) | |
| TTC7A∧8 | c.1817A>G/A; c.2086T>C | p.E606G, p.S696P | Compound Heterozygous Missense | 1 | (83) | |
| TTC37∧9 | 33 | c.859-3_859-7delTTTTT, c.3364delA | Miss-spliced protein, p.T1122Qfs*10 | Compound Heterozygous Frameshift, Splicing | 1 | Unpublished |
| DOCK8∧10 | 27 | c.3193del | p.S1065Afs*17 | Homozygous Frameshift | 1 | (84) |
Nomenclature according to HGVS, using Mutalyzer 2.0.26 Name Checker and gene specific transcript variants. 1FOXP3, NM_014009.3; 2IL2RA, NM_000417.2; 3LRBA, NM_006726.4; 4CTLA4, NM_005214.4; 5STAT1, NM007315.3; 6STAT3, NM_139276.2; 7STAT5b, NM_012448.3; 8TTC7A, NM_001288951.1; 9TTC37, NM_014639; 10DOCK8, NM_203447.1; (PolyA, Polyadenylation site; fam, families).