Research Article
Clinical Associations of Biallelic and Monoallelic TNFRSF13B Variants in Italian Primary Antibody Deficiency Syndromes
Table 3
Clinical summary of 21 CVID individuals with mutations in TNFRSF13B.
| | . | Age | Sex | IgG | IgA | IgM | Autoimmunity | Lymphoproliferation | Cancer | Mutation | | AHE | ITP | Other | LNE | Spl | Gran |
| | I.20 | 48 | F | 551 | 97 | 115 | No | Yes | | No | No | No | | c.[260 T>A];[542 C>A]
p.[I87N];[A181E] | | I.22 | 87 | F | 75 | 20 | 28 | No | No | | Yes | Yes | Yes | | c.[311 G>A];[=]
p.[C104Y];[=] | |
I.23 | 29 | M | 486 | 53 | 59 | No | Yes | IBD | Yes | Yes | Yes | | c.[310 T>C];[=]
p.[C104R];[=] | | I.34 | 60 | F | 44 | 0 | 0 | No | No | | Yes | Yes | No | | c.[122 A>G];[=]
p.[D41G];[=] | | I.38 | 76 | F | Na | Na | Na | Yes | No | | No | Yes | No | Pancreatic carcinoma | c.[706 G>T];[=]
p.[E236X];[=] | | I.40 | 42 | M | 269 | 15 | 73 | No | No | | No | No | No | | c.[310 T>C];[=]
p.[C104R];[=] | | I.45 | 49 | M | 157 | 7 | 6 | Yes | No | | Yes | No | Yes | | c.[579 C>A];[=]
p.[C193X];[=] | | I.59 | 25 | M | Na | Na | Na | No | No | | No | No | No | | c.[310 T>C];[542 C>A]
p.[C104R];[A181E] | | I.74 | 69 | M | 208 | 0 | 33 | No | No | | No | No | No | NHL | c.[204_205insA];[215 G>A]
p.[L69TfsX12];[R72H] | | I.75 | 53 | F | 356 | 72 | 33 | No | No | | Yes | Yes | No | Ovaric Theratoma | c.[310 T>C];[310 T>C]
p.[C104R];[C104R] | | I.77 | 25 | F | 430 | 8 | 152 | Yes | Yes | | No | Yes | No | | c.[260 T>A];[=]
p.[I87N];[=] | | I.78 | 19 | M | 983 | 18 | 169 | No | Yes | | No | No | No | | c.[260 T>A];[=]
p.[I87N];[=] | | I.82 | 49 | M | 380 | 0 | 39 | No | No | | No | Yes | No | | c.[310 T>C];[=]
p.[C104R];[=] | | I.86 | 23 | F | 280 | 5 | 4 | No | No | | Yes | Yes | Yes | | c.[492 C>G];[=]
p.[Y164X];[=] | | I.102 | 42 | F | 220 | 5 | 16 | Yes | No | | Yes | Yes | Yes | | c.[ 515 G>A];[=]
p.[C172Y];[=] | |
I.104 | 82 | F | 380 | 54 | 24 | No | No | | Yes | Yes | No | Sarcomas | c.[260 T>A];[492 C>G]
p.[I87N];[Y164X] | | I.118 | 54 | F | 240 | 5 | 140 | No | Yes | RA | Yes | Yes | Yes | | c.[492 C>G];[542 C>A]
p.[Y164X];[A181E] | | I.126 | 47 | F | 250 | 64 | 90 | No | No | | No | No | No | | c.[306 C>G];[431 C>G,579 C>A]
p.[Y102X][S144X,C193X] | | I.138 | 31 | M | 90 | 5 | 4 | No | Yes | Vitiligo | No | Yes | No | | c.[542 C>A];[=]
p.[A181E];[=] | | I.152 | 58 | F | 82 | 25 | 47 | No | Yes | | Yes | Yes | No | | c.[310 T>C];[=]
p.[C104R];[=] | | I.162 | 46 | F | 434 | 32 | 30 | No | No | | No | Yes | No | | c.[310 T>C];[579 C>A]
p.[C104R];[ C193X] |
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M: male, F: female, AHA: autoimmune hemolytic anemia, ITP: idiopathic thrombocytopenic purpura, LNE: lymph nodes enlargement; Spl: splenomegaly, Gran: granulomas, CD: coeliac disease, NHL: non-Hodgkin lymphoma, RA: rheumatoid arthritis, and Na: not available.
At diagnosis.
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