Research Article
Clinical Associations of Biallelic and Monoallelic TNFRSF13B Variants in Italian Primary Antibody Deficiency Syndromes
Table 5
Clinical summary of 9 IgAD individuals with mutations in TNFRSF13B.
| | . | Age | Sex | IgG mg/dL | IgA mg/dL | IgM mg/dL | Autoimmunity | Lymphoproliferation | Cancer | Mutation | | AHA | ITP | Other | LNE | Spl | Gran |
| | I.224 | 4 | M | 1077 | 6 | 55 | No | No | | No | No | No | No | A181E hetero | | I.192 | 7 | M | 794 | 29 | 110 | No | No | CD | No | No | No | No | C104R hetero | | I.193 | 19 | M | 1723 | 5 | 131 | No | No | | No | No | No | No | C104R hetero | | I.194 | 24 | F | 1345 | 33 | 194 | No | No | CD | No | No | No | No | C104R hetero | | I.254 | 6 | F | 1024 | 4 | 73 | No | No | | No | No | No | No | C193X hetero | | I.216 | 14 | F | 1370 | 3 | 140 | No | No | | No | No | No | No | C66X hetero | | I.205 | 8 | M | 1601 | 4 | 102 | No | No | | No | No | No | No | G190A hetero | | I.212 | 6 | M | 1139 | 5 | 46 | No | No | | No | No | No | No | P151L hetero | | I.217 | 5 | F | 972 | 21 | 139 | No | No | | No | No | No | No | R202H hetero |
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M: male; F: female; AHA: autoimmune hemolytic anemia; ITP: idiopathic thrombocytopenic purpura; LNE: lymph nodes enlargement; CD: coeliac disease.
At diagnosis.
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