Case No | Mutation site | Model probability value | Variant carrier | Onset age | Diagnosis | Pathogens | Clinical outcome | Family history | Plasma level of IgM | Plasma level of IgA | Plasma level of IgG | Plasma level of IgE |
---|---|---|---|---|---|---|---|---|---|---|---|---|
1 | c.346+ 1 G > T | 1.000 | Maternal | 2 m | ARDS | Rhinovirus | Alive | An elder brother died due to severe infection | 0.83 | 0.05↓ | 15.10 | 13.60 |
2 | c.521 A > G; p. Q174R | 0.997 | Maternal | 15y1m | Sepsis | Pseudomonas aeruginosa | Dead | Negative | 4.36↑ | 0.09↓ | 0.42↓ | 14.86 |
3 | c.654 C > A; p. C218X | 0.999 | Maternal | 2y6m | Encephalitis | Toxoplasma gondii | Alive | Negative | 3.84↑ | 0.36 |  < 0.33↓ |  < 5.00 |
4 | c.506 A > G; p. Y169C | 0.998 | Maternal | 7y6m | Leukoencephalopathy | Jamestown Canyon virus | Alve | Negative | 2.79↑ | 0.05↓ | 1.31↓ | 21.27↑ |
5 | c.347_409del p. K96Cfs*21 | 0.999 | De novo | 7y | Recurrent pulmonary infections | – | Alive | Negative | 2.59↑ | 0.08↓ | 0.46↓ | 11.12 |
6 | c.655_657delGGG p. 219delG | 0.999 | Maternal | 1y2m | Sepsis | Cytomegalovirus | Alve | An elder brother died due to severe infection | 2.12↑ | 0.07↓ | 0.37↓ | 17.20↑ |
7 | c.659 dupA p. Q221Tfs*10 | 0.999 | De novo | 1y10m | Recurrent pulmonary infections | Candida | Alive | Negative | 1.96↑ | 0.14↓ | 0.82↓ |  < 5.00 |