Table 3.
Reported inborn errors of immunity in HIV-negative children with T. marneffei infection
| Patient number | Geneticdefect | Inheritance | Nucleotide change | Amino acid change | Mutation type | Outcome | References |
|---|---|---|---|---|---|---|---|
| P1 | STAT1 | AD GOF | c.1053G > T | p.L351F | Missense | Improved | This study |
| P2 | ADA | AR |
(1) c.730delG (2) c.202T > A |
(1) p.E244KfsX67 (2) p.Y68N |
Compound heterozygous mutations | Dead | This study |
| P3 | CD40LG | XL | – | – | Large fragment deletion including exon1-5 | Dead | This study |
| P4 | STAT3 | AD LOF | c.115G > A | p.E39K | Missense | Dead | This study |
| P5 | IL2RG | XL | c.464G > A | p.W155X | Nonsense | Dead | This study |
| P6 | IL2RG | XL | c.464G > A | p.W155X | Nonsense | Dead | This study |
| P7 | STAT1 | AD GOF | c.193G > A | p.D65N | Missense | Improved | This study |
| P8 | STAT1 | AD GOF | c.1170G > A | p.M390I | Missense | Improved | This study |
| P9 | STAT1 | AD GOF | c.800C > T | p.A267V | Missense | Improved | [32] |
| P10 | STAT1 | AD GOF | c.821G > A | p.R274Q | Missense | Improved | [42] |
|
P11 (adult) |
STAT1 | AD GOF | c.859 T > A | p.Y287N | Missense | Improved | [60] |
| P12 | STAT1 | AD GOF | c.863C > T | p.T288I | Missense | Improved | [32] |
| P13 | STAT1 | AD GOF | c.1053G > T | p.L351F | Missense | Improved | [24] |
| P14 | STAT1 | AD GOF | c.1074G > T | p.L358F | Missense | Dead | [32] |
| P15 | STAT1 | AD GOF | c.1170G > A | p.M390I | Missense | Improved | [32] |
| P16 | STAT1 | AD GOF | c.193G > A | p.D65N | Missense | Improved | [24] |
| P17 | STAT3 | AD LOF | c.1679_1681del | Not stated | Deletion | Improved | [21] |
| P18 | STAT3 | AD LOF | c.1593A > T | Not stated | Missense | Improved | [21] |
| P19 | STAT3 | AD LOF | c.1593A > T | p.K531N | Missense | Improved | [23] |
|
P20 (adult) |
STAT3 | AD LOF | c.92G > A | p.R31Q | Missense | Improved | [61] |
| P21 | STAT3 | AD LOF | c.1121A > G | p.D374G | Missense | Improved | [62] |
| P22 | STAT3 | AD LOF | c.1673G > A | p. G558D | Missense | Improved | [22] |
| P23 | CD40LG | XL | c.424_436del | Not stated | Deletion | Improved | [21] |
| P24 | CD40LG | XL | > 132 kb | Not stated | Large fragment deletion | Improved | [21] |
| P25 | CD40LG | XL | c.1978 + 1G > A | Not stated | Splicing error | Improved | [21] |
| P26 | CD40LG | XL | c.598A > T | Not stated | Missense | Improved | [21] |
| P27 | CD40LG | XL |
g.IVS1-3 T > G (c.157insAG) |
p.I53RfsX2 | Splicing error | Dead | [63] |
| P28 | CD40LG | XL | g.IVS1 + 1G > A (c.75-156del82bp) | p.M25IfsX26 | Splicing error | Improved | [63] |
| P29 | CD40LG | XL |
g.IVS3 + 1G > A (exon3 missing) |
– | Splicing error | Improved | [63] |
| P30 | CD40LG | XL |
g.IVS1-1G > A (c.158-161delTAGA) |
p.I53KfsX13 | Splicing error | Lost to follow-up | [63] |
| P31 | CD40LG | XL |
g.IVS4 + 1G > C (exon4 missing) |
p.L116-136del | Splicing error | Improved | [63] |
| P32 | CD40LG | XL | – | – | Large fragment deletion including exon4-5 | Improved | [63] |
| P33 | CD40LG | XL | g.IVS1 + 1G > A | p.M25IfsX26 | Splicing error | Improved | [32] |
| P34 | IL2RG | XL | c.185G > A | Not stated | Nonsense | Dead | [21] |
| P35 | CARD9 | AR |
(1) c.440 T > C (2) c.586A > G |
(1)p.L147P (2)p.K196E |
Compound heterozygous mutations | Dead | [40] |
| P36 | CARD9 | AR |
(1) c.1118G > C (2) c.610C > T |
(1)p.R373P (2)p.R204C |
Compound heterozygous mutations | Improved | [39] |
| P37 | IFNGR1 | AR | c.182dupT | p.V61fsX69 | Insertion | Dead | [32] |
| P38 | IFNGR1 | AR | c.182dupT | p.V61fsX69 | Insertion | Improved | [32] |
| P39 | RELB | AR | c.400_401insAGC | p.Q135_R136insQ | Insertion | Improved | [41] |
| P40 | NFKB2 | AD | c.2540dupT | – | Insertion | Improved | [42] |
HIV human immunodeficiency virus, AD autosomal dominant, AR autosomal recessive, XL X-linked, GOF gain-of-function