Primary immunodeficient patients
| Disease . | Patient ID . | Mutation/genotype . |
|---|---|---|
| MSMD (IL-12Rβ1 deficiency) | IL12RB1#1 | 1745_1746insCA+1483 + 182-1619-1073del |
| IL12RB1#2 | 628_644dup | |
| IL12RB1#3 | R173P | |
| IL12RB1#4 | 1791 + 2T > G | |
| IL12RB1#5 | C198R | |
| IL12RB1#6 | 1623_1624delinsTT | |
| MSMD + viral infection | STAT1#1 | 1928insA (homozygous) |
| (STAT1 deficiency) | STAT1#2 | P696S (homozygous) |
| STAT1#3 | P696S (homozygous) | |
| MSMD only | STAT1#4 | Q463H/WT |
| (STAT1 deficiency) | STAT1#5 | L706S/WT |
| STAT1#6 | L706S/WT | |
| AD-CMC | STAT1gof#1 | A267V |
| STAT1gof#2 | A267V | |
| STAT1gof#3 | A267V | |
| AD-HIES | STAT3#1 | R382Q |
| STAT3#2 | V637M | |
| STAT3#3 | R382Q | |
| STAT3#4 | H437P | |
| STAT3#5 | Q644P | |
| STAT3#6 | S465F | |
| STAT3#7 | Y657N | |
| STAT3#8 | R382W | |
| STAT3#9 | L706M | |
| STAT3#10 | L706M | |
| STAT3#13 | V463del | |
| STAT3#14 | V463del | |
| STAT3#15 | R593P | |
| STAT3#16 | V463del | |
| AR-HIES (incl infection with mycobacteria, viruses and fungi) | TYK2#1 | 550_553GCTTdel (homozygous) |
| MSMD + viral infection | TYK2#2 | 2292-2301del |
| Disease . | Patient ID . | Mutation/genotype . |
|---|---|---|
| MSMD (IL-12Rβ1 deficiency) | IL12RB1#1 | 1745_1746insCA+1483 + 182-1619-1073del |
| IL12RB1#2 | 628_644dup | |
| IL12RB1#3 | R173P | |
| IL12RB1#4 | 1791 + 2T > G | |
| IL12RB1#5 | C198R | |
| IL12RB1#6 | 1623_1624delinsTT | |
| MSMD + viral infection | STAT1#1 | 1928insA (homozygous) |
| (STAT1 deficiency) | STAT1#2 | P696S (homozygous) |
| STAT1#3 | P696S (homozygous) | |
| MSMD only | STAT1#4 | Q463H/WT |
| (STAT1 deficiency) | STAT1#5 | L706S/WT |
| STAT1#6 | L706S/WT | |
| AD-CMC | STAT1gof#1 | A267V |
| STAT1gof#2 | A267V | |
| STAT1gof#3 | A267V | |
| AD-HIES | STAT3#1 | R382Q |
| STAT3#2 | V637M | |
| STAT3#3 | R382Q | |
| STAT3#4 | H437P | |
| STAT3#5 | Q644P | |
| STAT3#6 | S465F | |
| STAT3#7 | Y657N | |
| STAT3#8 | R382W | |
| STAT3#9 | L706M | |
| STAT3#10 | L706M | |
| STAT3#13 | V463del | |
| STAT3#14 | V463del | |
| STAT3#15 | R593P | |
| STAT3#16 | V463del | |
| AR-HIES (incl infection with mycobacteria, viruses and fungi) | TYK2#1 | 550_553GCTTdel (homozygous) |
| MSMD + viral infection | TYK2#2 | 2292-2301del |
MSMD indicates Mendelian susceptibility to mycobacterial disease; WT, wild type; AD-CMC, autosomal dominant chronic mucocutaneous candidiasis; AD-HIES, autosomal dominant hyper-IgE syndrome; AR-HIES, autosomal recessive hyper-IgE syndrome; and gof, gain-of-function