ID | Validated by Sanger | Method | Disease | Gene affected | Mutation | Comment |
---|---|---|---|---|---|---|
P1 | No | NGS | Not known | CDX1 (exone 3) | GÂ >Â A, p. E209D | Heterozygous gene mutation in CDX1 (exone 3) |
P2 | Yes | NGS | Ab def | NFKB2 | Not reported yet | Frame shift mutation in NFKB2 |
P3 | No | CVID panel, WES | UI* | – | – | No deleterious mutation diagnosed in the CVID chip |
P4 | No | Hyper IgE panel, WES | UI* | – | – | No promising data have been detected |
P5 | Yes | NGS, | Bruton | BTK | c.1783TÂ >Â C, p.Y551H | Missense mutation in BTK |
P6 | No | CVID panel, WES | UI* | – | – | No deleterious mutation diagnosed in the CVID chip |
P7 | Yes | NGS, | Netherton syndrome | SPINK5 | c.A/−, p.N755Mfs*27 | Homozygous nonsense mutation in SPINK5; (Netherton) |
P8(A) | Yes | Primary Ab def panel | Bruton | BTK | c.115TÂ >Â C, p.Y39H | Â |
P9(A) | Yes | Primary Ab def panel | Bruton | BTK | c.115TÂ >Â C, p.Y39H | Â |
P10 | Yes | NGS | CID | PIK3CD | c.3061GÂ >Â A,p.E1021Â K | Heterozygous mutation in the PIK3CD gene |
P11 | Yes | NGS | CID (MHC II def) | RFXANK | c.438Â +Â 5GÂ >Â A | RFXANK/BLS (Bare Lymphocyte Syndrome) |
P12 | Yes | WES | Phagocytic defect | STAT 1 | c.1945CÂ >Â T, p.R649C | Heterozygous gene mutation in STAT 1 |
P13 | No | MSMD panel, WES | UI* | – | – | No mutation in MSMD genes |
P14 | No | WES | AT | ATM gene (exon 39) | c.5623CÂ >Â T,p.Arg1875 | Rare homozygous variants here; mutation in exon 39 of ATM gene in homozygous form ATM gene |
P15 | No | NGS | SCID | PTPRC(CD45RO) | c.2539AÂ >Â G | CD45RO deficiency |
P16 (B) | Yes | WES | CGD | NCF1 | Completely absent | Complete lack of the NCF1 gene that encodes p47-phox, a component of NADPH oxidase enzyme. Only NCF1 pseudogenes were found |
P17 (B) | Yes | WES | CGD | NCF1 | Completely absent | Complete lack of the NCF1 gene that encodes p47-phox, a component of NADPH oxidase enzyme. Only NCF1 pseudogenes were found |
P18 | Yes | NGS | WAS | WAS | non-reported | Non-reported mutation in exon 8 was found as hemizygous (WAS) |
P19 | YES | WES | CID (CD40 def) | TNFRSF13B | IVS3Â +Â 25 AÂ >Â C | Heterozygote mutation in TNFRSF13B) |
P20 (C) | Yes | WES | LAD | ITGB2 | 1670 GÂ >Â C | Mutation in ITGB2 gene (LAD I) |
P21 (C) | Yes | WES | LAD | ITGB2 | 1670 GÂ >Â C | Mutation in ITGB2 gene (LAD I) |
P22 | Yes | WES | CGD (X-linked) | CYBB (exon 3) | c.252Â +Â 5 GÂ >Â C | Mutation in exon 3 of CYBB gene on Ch-X |
P23 (D) | Yes | WES | FMF | MEFV | c.2282GÂ >Â A:p.R761H/c.2040GÂ <Â C:p.M680H | Homozygous mutation in MEFV gene |
P24 (D) | Yes | WES | FMF | MEFV | c.2040GÂ <Â C:p.M680H | Heterozygous mutation in MEFV gene |
P25 (D) | Yes | WES | FMF | MEFV | c.2282GÂ >Â A:p.R761H | Heterozygous mutation in MEFV gene |
P26 (D) | Yes | WES | FMF | MEFV | c.2282GÂ >Â A:p.R761H | Heterozygous mutation in MEFV gene |
P27 (D) | Yes | WES | FMF | MEFV | c.2040GÂ <Â C:p.M680H | Heterozygous mutation in MEFV gene |
P28 | Yes | WES | SCN | JAGN1 | c.59GÂ >Â A,p.Arg20Glu | Homozygous mutation in JAGN1 gene |
P29 | Yes | WES | SCN | JAGN1 | c.40GÂ >Â A, p.Gly14Ser | Homozygous mutation in JAGN1 gene |
P30 (E) | Yes | SNP mapping array | MST1 def | STK4 | c.G750A, p.W250X | Homozygous stop codon mutation in exon 7 of the gene STK4 |
P31 (E) | Yes | SNP mapping array | MST1 def | STK4 | c.G750A, p.W250X | Homozygous stop codon mutation in exon 7 of the gene |
P32 (E) | Yes | SNP mapping array | MST1 def | STK4 | c.G750A, p.W250X | Homozygous stop codon mutation in exon 7 of the gene STK4 |
P33 | No | CVID panel | Ab def (CD40L def) | TNFSF5 | c.521AÂ >Â G | Homozygous mutation in TNFSF5 gene |
P34 (F) | Yes | NGS | CGD | CYBA | c.388C > T; p.G130X | Homozygous non-sense mutation in CYBA-encoding p22-phox:CAG codon change for Gln-130 → TAG stop codon |
P 35 (F) | Yes | NGS | CGD | CYBA | c.388C > T; p.G130X | Homozygous non-sense mutation in CYBA-encoding p22-phox:CAG codon change for Gln-130 → TAG stop codon |
P 36 (H) | Yes | WES | CGD | CYBB | C730delT; p.Cys244ValfsX10 | One base-pair deletion in CYBB, the X-ch linked gene encoding gp91-phox |
P 37 (H) | Yes | WES | CGD | CYBB | C730delT; p.Cys244ValfsX10 | One base-pair deletion in CYBB, the X-ch linked gene encoding gp91-phox |